{"id":2876,"date":"2020-08-06T11:51:47","date_gmt":"2020-08-06T11:51:47","guid":{"rendered":"http:\/\/mda.org.tw\/?page_id=2876"},"modified":"2022-02-16T17:17:12","modified_gmt":"2022-02-16T09:17:12","slug":"%e8%aa%8d%e8%ad%98%e7%96%be%e7%97%85","status":"publish","type":"page","link":"https:\/\/mda.org.tw\/?page_id=2876","title":{"rendered":"\u8a8d\u8b58\u75be\u75c5"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"2876\" class=\"elementor elementor-2876\" data-elementor-post-type=\"page\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-ff0f362 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"ff0f362\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-67cf7c3\" data-id=\"67cf7c3\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-a54f7a7 elementor-widget elementor-widget-accordion\" data-id=\"a54f7a7\" data-element_type=\"widget\" data-widget_type=\"accordion.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-accordion\">\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-1731\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-1731\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">\u524d\u8a00<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-1731\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-1731\"><p>\u8089\u840e\u7e2e\u4e0d\u662f\u50b3\u67d3\u6027\u75be\u75c5\uff0c\u800c\u662f\u4e00\u7a2e\u57fa\u56e0\u7f3a\u640d\u7684\u75be\u75c5\uff0c\u5b83\u7684\u985e\u578b\u6709\u5f88\u591a\u7a2e\uff08\u5982\uff1a\u88d8\u99a8\u578b\u3001\u8c9d\u514b\u578b\u3001\u810a\u9ad3\u578b\u7b49\u5176\u4ed6\u985e\u578b\u2026\uff09\uff0c\u4ee5\u88d8\u99a8\u578b\u70ba\u6700\u5e38\u898b\uff0c\u4e5f\u662f\u6700\u56b4\u91cd\u7684\u4e00\u7a2e\u3002\u6709\u7f3a\u640d\u7684\u57fa\u56e0\u4f7f\u808c\u8089\u7d30\u80de\u529f\u80fd\u9010\u6f38\u55aa\u5931\uff0c\u96a8\u8457\u5e74\u9f61\u589e\u52a0\u808c\u8089\u53d7\u640d\u7a0b\u5ea6\u6108\u56b4\u91cd\uff0c\u4ee5\u81f4\u60a3\u8005\u80a2\u9ad4\u7121\u6cd5\u6d3b\u52d5\u81ea\u5982\uff0c\u4e26\u4e14\u9020\u6210\u5404\u95dc\u7bc0\u6523\u7e2e\u8b8a\u5f62\uff0c\u5fc5\u9808\u9760\u652f\u67b6\u8f14\u52a9\u6216\u8f2a\u6905\u4ee3\u6b65\uff0c\u751a\u81f3\u7671\u7613\u5728\u5e8a\u4e0a\u3002\u6700\u5f8c\u5f80\u5f80\u56e0\u70ba\u547c\u5438\u808c\u6216\u5fc3\u81df\u808c\u8089\u53d7\u6ce2\u53ca\uff0c\u5c0e\u81f4\u60a3\u8005\u547c\u5438\u56f0\u96e3\u6216\u5fc3\u81df\u505c\u6b62\u8df3\u52d5\u800c\u7d50\u675f\u751f\u547d\u3002\u5176\u4ed6\u985e\u578b\u7684\u808c\u8089\u840e\u7e2e\u75c7\uff0c\u7531\u65bc\u57fa\u56e0\u75c5\u8b8a\u578b\u614b\u4e0d\u540c\uff0c\u767c\u75c5\u5e74\u9f61\u3001\u808c\u8089\u53d7\u640d\u90e8\u4f4d\u3001\u5e73\u5747\u58fd\u547d\u7b49\u4ea6\u5404\u6709\u4e0d\u540c\uff0c\u4f46\u662f\u5927\u81f4\u4e0a\u4e5f\u662f\u4f9d\u7167\u9019\u6a23\u7684\u75c5\u7a0b\u9032\u884c\u3002<img fetchpriority=\"high\" decoding=\"async\" class=\"aligncenter wp-image-3023 size-full\" src=\"http:\/\/mda.org.tw\/wp-content\/uploads\/2020\/08\/\u4ecb\u7d39\u5354\u6703\u63d2\u756b.jpg\" alt=\"\" width=\"712\" height=\"1024\" srcset=\"https:\/\/mda.org.tw\/wp-content\/uploads\/2020\/08\/\u4ecb\u7d39\u5354\u6703\u63d2\u756b.jpg 712w, https:\/\/mda.org.tw\/wp-content\/uploads\/2020\/08\/\u4ecb\u7d39\u5354\u6703\u63d2\u756b-209x300.jpg 209w\" sizes=\"(max-width: 712px) 100vw, 712px\" \/><\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-1732\" class=\"elementor-tab-title\" data-tab=\"2\" role=\"button\" aria-controls=\"elementor-tab-content-1732\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">\u808c\u8089\u75be\u75c5\u7684\u8a3a\u65b7<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-1732\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"2\" role=\"region\" aria-labelledby=\"elementor-tab-title-1732\"><p style=\"font-weight: 400;\">\u694a\u667a\u8d85\u91ab\u5e2b<br \/>2007\/11\/19\u64b0<\/p><p style=\"font-weight: 400;\">\u00a0\u00a0 \u4e00\u822c\u6240\u8b02\u7684\u808c\u8089\u75be\u75c5(Myopathies)\u6307\u7684\u662f\u808c\u8089\u69cb\u9020\u6216\u529f\u80fd\u7684\u554f\u984c\u6240\u9020\u6210\u7684\u75be\u75c5\uff0c\u4e0d\u904e\u808c\u8089\u529f\u80fd\u4e0a\u7684 \u7570\u5e38\u53ef\u56e0\u70ba\u4e0b\u904b\u52d5\u795e\u7d93\u5143\u3001\u5468\u908a\u795e\u7d93\u3001\u795e\u7d93\u808c\u8089\u4ea4\u63a5\u8655\u7684\u75be\u75c5\u6240\u5f71\u97ff\u3002\u5c0d\u65bc\u808c\u8089\u75be\u75c5\u7684\u8a3a\u65b7\uff0c\u5fc5\u9808\u8003\u616e\u5230\u808c\u8089\u75be\u75c5\u7684\u4e00\u4e9b\u7279\u9ede\u3002\u6700\u91cd\u8981\u7684\u5c31\u662f\u5728\u75c5\u53f2\u53ca\u7406\u5b78\u6aa2\u67e5\u65b9\u9762\u8981\u6709\u4e00\u500b\u6709\u7cfb\u7d71\u4e14\u6b63\u78ba\u7684\u81e8\u5e8a\u8a55\u4f30\uff0c\u7136\u5f8c\u6839\u64da\u8a55\u4f30\u7684\u7d50\u679c\u4f86\u9078\u64c7\u9069\u7576\u7684\u5be6\u9a57\u5ba4\u6aa2\u67e5\u3002<\/p><p style=\"font-weight: 400;\">\u00a0<\/p><ol><li style=\"font-weight: 400;\"><strong>\u75c5\u53f2<\/strong><br \/>\u00a0 \u808c\u8089\u75be\u75c5\u7a2e\u985e\u96d6\u7136\u5f88\u591a\uff0c\u4f46\u662f\u75c7\u72c0\u537b\u5f88\u6709\u9650\u3002\u6700\u4e3b\u8981\u7684\u75c7\u72c0\u5c31\u662f\u808c\u8089\u7684\u7121\u529b\u8207\u4e0d\u9069\u3002\u808c\u8089\u7121\u529b\u662f\u808c\u8089\u75be\u75c5\u6700\u5e38\u898b\u7684\u75c7\u72c0\uff0c\u5728\u75c5\u53f2\u8a62\u554f\u6642\u91ab\u5e2b\u6703\u6ce8\u610f\u767c\u75c5\u6642\u9593\u53ca\u75c5\u7a0b\u901f\u5ea6\uff0c\u904b\u52d5\u529f\u80fd\u767c\u5c55\u7684\u6642\u9593\u8868\uff0c\u9ad4\u80b2\u6d3b\u52d5\u7684\u8868\u73fe\uff0c\u52a0\u91cd\u6216\u6e1b\u8f15\u7121\u529b\u7684\u56e0\u7d20\uff0c\u53ca\u5b8c\u6210\u67d0\u7a2e\u52d5\u4f5c\u7684\u80fd\u529b\u3002<\/li><\/ol><p style=\"font-weight: 400;\">\u5f9e\u60a3\u8005\u65e5\u5e38\u751f\u6d3b\u4e2d\u7684\u75c7\u72c0\u53ca\u52d5\u4f5c\u53ef\u4ee5\u5206\u6790\u51fa\u5176\u53d7\u5f71\u97ff\u7684\u808c\u8089\u7fa4\u3002\u5728\u8fd1\u7aef\u808c\u8089\u65b9\u9762\uff0c\u80a9\u8180\u53ca\u624b\u81c2\u7684\u7121\u529b\u8868\u73fe\u5728\u68b3\u982d\u3001\u722c\u6a13\u68af\u3001\u628a\u624b\u9ad8\u8209\u904e\u982d\u6216\u62ff\u53d6\u9ad8\u67b6\u4e0a\u7684\u6771\u897f\u7b49\u3002\u9ad6\u90e8\u53ca\u5927\u817f\u7684\u7121\u529b\u8868\u73fe\u5728\u722c\u6a13\u68af\u3001\u5f9e\u6905\u5b50\u6216\u8e72\u59ff\u7ad9\u8d77\u4f86\u7b49\u3002\u5728\u9060\u7aef\u808c\u8089\u65b9\u9762\uff0c\u624b\u7121\u529b\u7684\u75c7\u72c0\u6703\u51fa\u73fe\u5728\u8f49\u9580\u628a\u3001\u958b\u74f6\u84cb\u3001\u6263\u6263\u5b50\u3001\u526a\u6307\u7532\u7b49\u52d5\u4f5c\uff0c\u5728\u4e0b\u80a2\u5247\u56e0\u70ba\u5782\u8db3\u800c\u5bb9\u6613\u8dd8\u5012\u3002<\/p><p style=\"font-weight: 400;\">\u808c\u8089\u75be\u75c5\u901a\u5e38\u4ee5\u5c0d\u7a31\u6027\u7684\u8fd1\u7aef\u7121\u529b\u70ba\u4e3b\uff0c\u4e0d\u904e\u4e5f\u6709\u4e00\u4e9b\u808c\u8089\u75be\u75c5\u9060\u7aef\u7121\u529b\u4e5f\u53ef\u80fd\u5f88\u660e\u986f\uff0c\u4f8b\u5982\u5f37\u76f4\u6027\u808c\u5931\u990a\u75c7\u3001\u9060\u7aef\u808c\u8089\u75be\u75c5\u3001\u5305\u6db5\u9ad4\u808c\u75c5\u7b49\u3002<\/p><p style=\"font-weight: 400;\">\u808c\u8089\u75be\u75c5\u53ef\u80fd\u6703\u51fa\u73fe\u8a31\u591a\u7a2e\u4e0d\u9069\u7684\u75c7\u72c0\uff0c\u6211\u5011\u8981\u6ce8\u610f\u9019\u4e9b\u75c7\u72c0\u662f\u5728\u4f11\u606f\u6642\u6216\u662f\u904b\u52d5\u5f8c\u51fa\u73fe\u3002\u9178\u75db\u6216\u58d3\u75db\u53ef\u80fd\u51fa\u73fe\u65bc\u767c\u708e\u6027\u808c\u8089\u75be\u75c5\u3002<\/p><p style=\"font-weight: 400;\">\u60a3\u8005\u53ca\u5bb6\u5c6c\u61c9\u63d0\u4f9b\u5bb6\u65cf\u53f2\u8b93\u91ab\u5e2b\u505a\u8a3a\u65b7\u7684\u53c3\u8003\u3002<\/p><p style=\"font-weight: 400;\">\u00a0<\/p><ol><li style=\"font-weight: 400;\"><strong> \u7406\u5b78\u6aa2\u67e5<\/strong><br \/>\u91ab\u5e2b\u6703\u6ce8\u610f\u662f\u5426\u6709\u59ff\u52e2\u7570\u5e38\u6216\u9aa8\u9abc\u7570\u5e38\u2500\u5982\u810a\u67f1\u5074\u5f4e\u3001\u810a\u67f1\u524d\u5f4e\u3001\u95dc\u7bc0\u6523\u7e2e\u3002\u808c\u8089\u5931\u990a\u75c7\u7684\u60a3\u8005\u6703\u51fa\u73fe\u8173\u8ddf\u808c\u8171\u7e2e\u77ed\uff0c\u8173\u8ddf\u4e0d\u6613\u8457\u5730\u7684\u73fe\u8c61\u3002\u808c\u8089\u840e\u7e2e\u7684\u7a0b\u5ea6\u8207\u7bc4\u570d\u4e5f\u662f\u8a55\u4f30\u808c\u8089\u75be\u75c5\u4e00\u500b\u5f88\u91cd\u8981\u7684\u9805\u76ee\u3002\u808c\u8089\u5916\u89c0\u4e0a\u7684\u80a5\u5927\u53ef\u80fd\u662f\u808c\u8089\u771f\u6b63\u7684\u80a5\u5927\u6216\u662f\u5047\u6027\u80a5\u5927\u3002\u5047\u6027\u80a5\u5927\u5e38\u51fa\u73fe\u65bc\u808c\u8089\u5931\u990a\u75c7\u7684\u75c5\u4eba\uff0c\u4f4d\u7f6e\u53ef\u4ee5\u5728\u5c0f\u817f\u3001\u4e09\u89d2\u808c\u3001\u5927\u817f\u5916\u5074\u3002\u9019\u4e9b\u808c\u8089\u672c\u4f86\u4e5f\u542b\u6709\u8f03\u591a\u7684\u80a5\u5927\u7d30\u80de\uff0c\u4f46\u662f\u96a8\u8457\u75be\u75c5\u7684\u9032\u5c55\u808c\u8089\u9010\u6f38\u7684\u88ab\u7e96\u7dad\u7d44\u7e54\u8207\u8102\u80aa\u6240\u53d6\u4ee3\u3002\u808c\u5f37\u76f4(myotonia)\u00a0\u662f\u808c\u8089\u6536\u7e2e\u5f8c\u4e0d\u6613\u653e\u9b06\u7684\u73fe\u8c61\uff0c\u6572\u6253\u5927\u62c7\u6307\u7403\u808c(thenar muscles)\u3001\u624b\u6307\u4f38\u808c\u53ca\u820c\u982d\u4ea6\u53ef\u5f15\u8d85\u808c\u8089\u7684\u8f03\u4e45\u7684\u6536\u7e2e\u3002\u9664\u4e86\u56db\u80a2\u808c\u529b\u6e2c\u5b9a\u5916\uff0c\u982d\u9838\u90e8\u7684\u808c\u8089\u4e5f\u6703\u5217\u5165\u8a55\u4f30\uff0c \u5982 \u773c\u76ae\u662f\u5426\u4e0b\u5782\ufe56\u773c\u808c\u904b\u52d5\u662f\u5426\u6709\u969c\u7919\uff0c\u662f\u5426\u6709\u8907\u8996\ufe56\u81c9\u90e8\u808c\u8089\u662f\u5426\u7121\u529b\uff0c\u773c\u76ae\u53ef\u5426\u9589\u7dca\ufe56\u53ef\u5426\u5439\u53e3\u54e8\ufe56\u53ef\u5426\u5439\u6c23\u7403\ufe56\u5728\u53e3\u54bd\u90e8\u808c\u8089\uff0c\u89c0\u5bdf\u662f\u5426\u6709\u9f3b\u97f3\u3001\u6703\u55c6\u5230\u3001\u541e\u56a5\u56f0\u96e3\u7b49\u60c5\u5f62\u3002\u91ab\u5e2b\u6703\u8a55\u4f30\u9838\u90e8\u808c\u8089\uff0c\u89c0\u5bdf\u662f\u5426\u6709\u5782\u982d\u7684\u60c5\u5f62\uff0c\u4e26\u6e2c\u8a66\u9838\u90e8\u524d\u5f4e\uff0c\u5f8c\u4ef0\u53ca\u8f49\u52d5\u7684\u529b\u91cf\u3002\u770b\u75c5\u4eba\u8d70\u8def\u662f\u5426\u6709\u6416\u64fa\u5f0f\u6b65\u614b(waddling gait)\u00a0\u3002\u7d9c\u5408\u60a3\u8005\u7121\u529b\u7684\u5206\u4f48\u53ca\u808c\u8089\u7684\u72c0\u6cc1\uff0c\u53ef\u8b93\u91ab\u5e2b\u6709\u4e00\u5927\u81f4\u7684\u65b9\u5411\u3002<\/li><\/ol><p style=\"font-weight: 400;\">\u00a0<\/p><p style=\"font-weight: 400;\">\u00a0<strong>III. \u5be6\u9a57\u5ba4\u6aa2\u67e5<\/strong><\/p><p style=\"font-weight: 400;\">\u808c\u8089\u75be\u75c5\u7684\u8a3a\u65b7\uff0c\u9664\u4e86\u6b63\u78ba\u7684\u75c5\u53f2\u53ca\u7406\u5b78\u6aa2\u67e5\u5916\uff0c\u5be6\u9a57\u5ba4\u6aa2\u67e5\u4e5f\u662f\u4e0d\u53ef\u6216\u7f3a\u7684\u3002\u8207\u808c\u8089\u75be\u75c5\u6bd4\u8f03\u6709\u95dc\u7684\u5be6\u9a57\u5ba4\u6aa2\u67e5\u5982\u4e0b\uff1a<\/p><ol><li style=\"font-weight: 400;\"><strong> \u8840\u6db2\u6aa2\u67e5\uff1a<\/strong><br \/>1.\u4e00\u822c\u8840\u6db2\u6aa2\u67e5\uff1a\u9019\u4e9b\u57fa\u672c\u7684\u6aa2\u67e5\u5c0d\u67d0\u4e9b\u75c5\u4eba\u800c\u8a00\u9084\u662f\u5f88\u91cd\u8981\uff0c\u4f8b\u5982\u767c\u708e\u6027\u808c\u8089\u75be\u75c5\u53ca\u4e00\u4e9b\u514d\u75ab\u5931 \u00a0 \u8abf\u7684\u75be\u75c5\u3002<\/li><li style=\"font-weight: 400;\">\u808c\u6c28\u9178\u6fc0\u9176(Creatine kinase)\uff1aCreatine kinase (CK)\uff1a\u808c\u6c28\u9178\u6fc0\u9176CK\u662f\u8a55\u4f30\u795e\u7d93\u808c\u8089\u75be\u75c5\u6700\u6709\u6548\u7684\u4e00\u9805\u8840\u6db2\u6aa2\u67e5\u3002\u5728\u808c\u8089\u640d\u50b7\u53ca\u518d\u751f\u7684\u904e\u7a0b\u4e2d\u6703\u89c0\u5bdf\u5230\u6b64\u9176\u7684\u4e0a\u5347\u3002\u5728\u5927\u90e8\u5206\u808c\u8089\u75be\u75c5\u7684\u75c5\u4eba\u53ef\u4ee5\u770b\u5230CK\u7684\u5347\u9ad8\uff0c\u4f46\u662f\u5728\u4e00\u4e9b\u7de9\u6162\u9032\u884c\u53ca\u975e\u7834\u58de\u6027\u7684\u808c\u8089\u75be\u75c5\u53ef\u80fd\u6b63\u5e38\u3002CK\u503c\u5c0d\u65bc\u808c\u8089\u75be\u75c5\u7684\u9451\u5225\u8a3a\u65b7\u662f\u6709\u5e6b\u52a9\u7684\uff0c\u5f88\u9ad8\u7684CK\u503c\u901a\u5e38\u51fa\u73fe\u65bc\u675c\u986f\u6c0f\u808c\u8089\u5931\u990a\u75c7(Duchenne muscular dystrophy)\uff0cCK\u5e38\u5e38\u5927\u65bc\u6b63\u5e38\u503c\u7684100\u500d\u3002\u5176\u4ed6\u5982\u80a2\u5e36\u578b\u808c\u8089\u5931\u990a\u75c7\u7684CK\u503c\u6bd4\u8f03\u4e0d\u6703\u9019\u9ebc\u9ad8\u3002\u5f88\u9ad8\u7684\u503c\u4e5f\u6703\u51fa\u73fe\u5728\u808c\u8089\u7d30\u80de\u5927\u91cf\u58de\u6b7b\u7684\u60c5\u6cc1\u4e0b\uff0c\u5982\u56b4\u91cd\u7684\u591a\u767c\u6027\u808c\u708e\u6216\u662f\u808c\u5d29\u89e3\u3002\u4e0d\u904e\u808c\u8089\u5931\u990a\u75c7\u75c5\u7a0b\u4e45\u4e86\u4e4b\u5f8c\uff0c\u56e0\u70ba\u808c\u8089\u8cea\u91cf\u7684\u6e1b\u4f4e\uff0cCK\u4e5f\u6703\u964d\u81f3\u63a5\u8fd1\u6b63\u5e38\u503c\u3002\u5728\u4e00\u4e9b\u795e\u7d93\u6e90\u6027\u7684\u75be\u75c5(\u5982\u810a\u9ad3\u808c\u8089\u840e\u7e2e\u75c7\u3001\u808c\u840e\u6027\u5074\u7d22\u786c\u5316\u75c7)CK\u503c\u4e5f\u6703\u5347\u9ad8\uff0c\u4f46\u901a\u5e38\u90fd\u5728\u6b63\u5e38\u503c\u768410\u500d\u4e4b\u5167\u3002\u81f3\u65bcAST, ALT, LDH\u7b49\u9175\u7d20\uff0c\u96d6\u7136\u5728\u808c\u8089\u75be\u75c5\u4e5f\u6703\u51fa\u73fe\u4e0a\u5347\uff0c\u4f46\u662f\u6bd4\u8f03\u6c92\u6709\u7279\u7570\u6027\uff0c\u4e0d\u904e\u8981\u662f\u770b\u5230\u6709\u9019\u4e9b\u9175\u7d20\u7684\u7570\u5e38\uff0c\u9664\u4e86\u809d\u75be\u75c5\u5916\uff0c\u4e5f\u8981\u8003\u616e\u808c\u8089\u75be\u75c5\u3002<\/li><li style=\"font-weight: 400;\"><strong> \u808c\u96fb\u5716\uff0c\u795e\u7d93\u50b3\u5c0e\u53ca\u5176\u4ed6\u795e\u7d93\u751f\u7406\u6aa2\u67e5<\/strong><br \/>\u795e\u7d93\u808c\u8089\u75be\u75c5\u53ef\u4ee5\u5f88\u65b9\u4fbf\u7684\u7528\u96fb\u5b50\u751f\u7406\u5b78\u7684\u65b9\u6cd5\u4f86\u6aa2\u67e5\uff0c\u9019\u4e9b\u65b9\u6cd5\u5c0d\u75be\u75c5\u7684\u8a3a\u65b7\u53ca\u6cbb\u7642\u6548\u679c\u7684\u8ffd\u8e64\u90fd\u5341\u5206\u91cd\u8981\u3002\u808c\u96fb\u5716\u5c0d\u65bc\u8a3a\u65b7\u808c\u8089\u53ca\u795e\u7d93\u75c5\u8b8a\u90fd\u5f88\u6709\u7528\uff0c\u901a\u5e38\u5fc5\u9808\u6aa2\u67e5\u8fd1\u7aef\u53ca\u9060\u7aef\u7684\u808c\u8089\uff0c\u4ee5\u4e86\u89e3\u75be\u75c5\u5f71\u97ff\u7684\u7bc4\u570d\u53ca\u5176\u56b4\u91cd\u7a0b\u5ea6\u3002\u795e\u7d93\u808c\u8089\u4ea4\u63a5\u8655\u7684\u50b3\u5c0e\u53ef\u4ee5\u7528\u91cd\u8986\u523a\u6fc0\u6e2c\u9a57\u53ca\u55ae\u7e96\u7dad\u808c\u96fb\u5716\u4f86\u8a55\u4f30\u3002\u904b\u52d5\u53ca\u611f\u89ba\u795e\u7d93\u50b3\u5c0e\u901f\u5ea6\u5c0d\u65bc\u5468\u908a\u795e\u7d93\u53ca\u795e\u7d93\u6839\u7684\u75c5\u8b8a\u66f4\u662f\u57fa\u672c\u7684\u6aa2\u67e5\u3002<\/li><li style=\"font-weight: 400;\"><strong> \u808c\u8089\u5207\u7247<\/strong><\/li><li style=\"font-weight: 400;\">\u808c\u8089\u5207\u7247(muscle biopsy)\u53ef\u4ee5\u63d0\u4f9b\u8a3a\u65b7\u6700\u91cd\u8981\u7684\u4f9d\u64da\uff0c\u9032\u800c\u5e6b\u52a9\u81e8\u5e8a\u91ab\u5e2b\u505a\u89e3\u91cb\u9810\u5f8c\u3001\u63d0\u4f9b\u6cbb\u7642\u3001\u53ca\u907a\u50b3\u8aee\u8a62\u7684\u53c3\u8003\u3002\u8981\u5f97\u5230\u826f\u597d\u7684\u808c\u8089\u75c5\u7406\u6aa2\u67e5\uff0c\u5fc5\u9808\u4ef0\u8cf4\u81e8\u5e8a\u91ab\u5e2b\u8207\u63d0\u4f9b\u808c\u8089\u75c5\u7406\u670d\u52d9\u7684\u55ae\u4f4d\u5bc6\u5207\u7684\u914d\u5408\u3002<\/li><\/ol><p style=\"font-weight: 400;\">\u00a0\u00a0\u514d\u75ab\u7d44\u7e54\u5316\u5b78\u67d3\u8272\u6cd5\u5df2\u6210\u70ba\u808c\u8089\u75c5\u7406\u5be6\u9a57\u5ba4\u5fc5\u5099\u7684\u6aa2\u67e5\uff0c\u6108\u4f86\u6108\u591a\u7684\u6297\u9ad4\u88ab\u7528\u65bc \u808c\u8089\u75be\u75c5\u7684\u8a3a\u65b7\u53ca\u7814\u7a76\u4e0a\u3002\u501f\u52a9\u4e0d\u540c\u7684\u6297\u9ad4\u53ef\u7528\u4ee5\u6a19\u793a\u7279\u5b9a\u7684\u7269\u8cea\u6216\u5340\u5206\u4e0d\u540c\u7684\u7d30\u80de\u3002\u76ee\u524d\u61c9\u7528\u6bd4\u8f03\u5ee3\u6cdb\u5982dystrophin\u7684\u514d\u75ab\u7d44\u7e54\u5316\u5b78\u67d3\u8272\uff0c\u5c0d\u65bc\u8a3a\u65b7\u56e0dystrophin\u7f3a\u4e4f\u6240\u9020\u6210\u7684\u675c\u986f\u6c0f\u808c\u8089\u5931\u990a\u75c7(Duchenne muscular dystrophy)\u53ca\u8c9d\u514b\u6c0f\u808c\u8089\u5931\u990a\u75c7(Becker muscular dystrophy)\u76f8\u7576\u91cd\u8981\u3002\u53e6\u5916\u50cf\u80a2\u5e36\u578b\u808c\u8089\u5931\u990a\u75c7(Limb-girdle muscular dystrophy) \u4e2d\u6709\u4e9b\u662f\u56e0\u70badystrophin \u76f8\u95dc\u91a3\u86cb\u767d\u8907\u5408\u9ad4\u4e2d(dystrophin-associated glycoprotein complex)\u7684\u6210\u5206\u7f3a\u640d\u6240\u81f4\uff0c\u514d\u75ab\u7d44\u7e54\u5316\u5b78\u67d3\u8272\u4e5f\u5728\u9019\u65b9\u9762\u7684\u9451\u5225\u8a3a\u65b7\u4e0a\u626e\u6f14\u4e86\u91cd\u8981\u7684\u89d2\u8272\u3002<\/p><ol><li style=\"font-weight: 400;\"><strong> \u57fa\u56e0\u6aa2\u67e5<\/strong><br \/>\u5206\u5b50\u907a\u50b3\u5b78\u7684\u9032\u6b65\u8b93\u6211\u5011\u5c0d\u8a31\u591a\u75be\u75c5\u7684\u8a3a\u65b7\u9032\u5165\u4e00\u500b\u65b0\u7684\u5883\u754c\uff0c\u7576\u7136\u795e\u7d93\u808c\u8089\u75be\u75c5\u4e5f\u4e0d\u4f8b\u5916\u3002\u57fa\u56e0\u6aa2\u67e5\u53ef\u4ee5\u8aaa\u662f\u8a31\u591a\u75be\u75c5\u201c\u7d42\u6975\u8a3a\u65b7\u201d\u7684\u5de5\u5177\u3002\u76ee\u524d\u5728\u795e\u7d93\u808c\u8089\u75be\u75c5\u7684\u5206\u5b50\u907a\u50b3\u5b78\u8a3a\u65b7\u66f4\u662f\u8207\u65e5\u4ff1\u589e\uff0c\u50cf\u8a31\u591a\u578b\u7684\u808c\u8089\u5931\u990a\u75c7\uff0c\u7c92\u7dda\u9ad4\u75be\u75c5\uff0c\u810a\u9ad3\u808c\u8089\u840e\u7e2e\u75c7\uff0c\u4ee5\u53ca\u907a\u50b3\u6027\u5468\u908a\u795e\u7d93\u75c5\u8b8a\uff0c\u76ee\u524d\u90fd\u53ef\u4ee5\u7528\u57fa\u56e0\u6aa2\u67e5\u7684\u65b9\u6cd5\u4f86\u8a3a\u65b7\u3002\u9664\u4e86\u75c5\u4eba\u7684\u6aa2\u67e5\uff0c\u5c0d\u65bc\u67d0\u4e9b\u75be\u75c5\u5e36\u539f\u8005\u7684\u5075\u6e2c\u4e5f\u53ef\u505a\u7684\u5230\u3002\u7528\u57fa\u56e0\u6aa2\u67e5\u4f86\u8a3a\u65b7\u7684\u8da8\u52e2\u4e5f\u4e00\u5b9a\u6703\u904b\u7528\u5730\u6108\u4f86\u6108\u5ee3\u3002<\/li><li style=\"font-weight: 400;\"><strong> \u808c\u8089\u5f71\u50cf\u6aa2\u67e5<\/strong><br \/>\u96fb\u8166\u65b7\u5c64\u53ca\u6838\u78c1\u5171\u632f\u9020\u5f71\u53ef\u4ee5\u4f5c\u70ba\u808c\u8089\u75be\u75c5\u8a3a\u65b7\u7684\u8f14\u52a9\u5de5\u5177\u3002\u901a\u5e38\u6211\u5011\u53ef\u4ee5\u89c0\u5bdf\u808c\u8089\u4e2d\u8a0a\u865f\u7684\u6e1b\u5f31\u6216\u589e\u5f37\uff0c\u808c\u8089\u9ad4\u7a4d\u5927\u5c0f\u7684\u6539\u8b8a\uff0c\u4ee5\u53ca\u90a3\u4e9b\u808c\u8089\u53d7\u5f71\u97ff\u3002<\/li><\/ol><p style=\"font-weight: 400;\"><strong>\u00a0<\/strong><\/p><ol><li style=\"font-weight: 400;\"><strong> \u7d50\u8ad6\uff1a<\/strong><br \/>\u5c0d\u65bc\u4e00\u4f4d\u61f7\u7591\u662f\u808c\u8089\u75be\u75c5\u7684\u60a3\u8005\uff0c\u91ab\u5e2b\u5728\u75c5\u53f2\u8a62\u554f\u6216\u7406\u5b78\u6aa2\u67e5\u65b9\u9762\uff0c\u6703\u6ce8\u610f\u5230\u4e0a\u8ff0\u7684\u91cd\u9ede\uff0c\u4e26\u8f14\u4ee5\u5404\u7a2e\u5be6\u9a57\u5ba4\u6aa2\u67e5\uff0c\u60a3\u8005\u53ca\u5bb6\u5c6c\u4e5f\u8981\u5118\u53ef\u80fd\u63d0\u4f9b\u8cc7\u8a0a\uff0c\u914d\u5408\u91ab\u5e2b\uff0c\u624d\u80fd\u6709\u6548\u7387\u800c\u6b63\u78ba\u5730\u8a3a\u65b7\u51fa\u808c\u8089\u75be\u75c5\u3002<\/li><\/ol><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-1733\" class=\"elementor-tab-title\" data-tab=\"3\" role=\"button\" aria-controls=\"elementor-tab-content-1733\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7(\u808c\u5931\u990a\u75c7)\u7684\u8a8d\u8b58<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-1733\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"3\" role=\"region\" aria-labelledby=\"elementor-tab-title-1733\"><p style=\"font-weight: 400;\">\u674e\u6b63\u6df3 \u81fa\u4e2d \u4e2d\u570b\u91ab\u85e5\u5b78\u9662 \u795e\u7d93\u5167\u79d1<br \/>\u9673\u9806\u52dd \u9ad8\u96c4 \u9ad8\u96c4\u9577\u5e9a\u91ab\u9662 \u795e\u7d93\u5167\u79d1\u7cfb-\u795e\u7d93\u808c\u8089\u75be\u75c5\u79d1<\/p><p style=\"font-weight: 400;\"><strong>\u25a0\u524d\u8a00<\/strong><br \/>\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u662f\u4e00\u7a2e\u975e\u795e\u7d93\u6027\u75c5\u56e0\u6240\u9020\u6210\u7684\u75be\u75c5\uff0c\u800c\u662f\u808c\u8089\u7d30\u80de\u672c\u8eab\u96a8\u8457\u6642\u9593\u53ca\u5e74\u9f61\u6f38\u9032\u6027\u5730\u640d\u50b7\u8207\u840e\u7e2e\u7684\u75be\u75c5\uff0c\u9019\u7fa4\u808c\u8089\u75be\u75c5\u5927\u90e8\u4efd\u662f\u57fa\u56e0\u6709\u7279\u5b9a\u7684\u8b8a\u7570\u6240\u81f4\uff0c\u56e0\u6b64\u5728\u81e8\u5e8a\u4e0a\uff0c\u5177\u6709\u7279\u6b8a\u7684\u907a\u50b3\u6027\u8cea\u3002\u8b6c\u5982\u6bcd\u89aa\u662f\u6f5b\u5728\u6027\u5e36\u7f3a\u640d\u57fa\u56e0\u8005\uff0c\u800c\u75c5\u8b8a\u53ea\u767c\u751f\u5728\u5176\u7537\u5b69\u8eab\u4e0a\uff0c\u70ba\u6027\u806f\u96b1\u6027\u57fa\u56e0\u907a\u50b3\u3002\u5e38\u898b\u7684\u6709\u675c\u986f\u578b\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7(Duchenne type)\u53ca\u8c9d\u514b\u578b\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7(Becker type)\uff0c\u53e6\u5916\u6709\u9ad4\u67d3\u8272\u9ad4\u986f\u6027\u907a\u50b3\u7684\u5982\u984f\u80a9\u80b1\u578b\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7(Facio-scapulo-humeral type)\u53ca\u808c\u5f37\u76f4\u578b\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7(Myotonia dystrophica)\u6216\u4ee5\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\u7684\u80a2\u5e36\u578b\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7(Limb girdle type)\u6216\u8f03\u5c11\u6578\u7684\u5176\u5b83\u578b\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u3002<br \/>\u675c\u986f\u578b\u6216\u8c9d\u514b\u578b\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u662f\u6240\u6709\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u4e2d\u6700\u5e38\u898b\u7684\u4e00\u7a2e\uff0c\u540c\u6642\u662f\u9032\u884c\u8f03\u5feb\u7684\u75be\u60a3\uff0c\u7531\u65bc\u5b83\u662f\u4e00\u7a2e\u6027\u806f\u96b1\u6027\u907a\u50b3\uff0c\u56e0\u6b64\u5927\u90e8\u4efd\u53ea\u6709\u7537\u5b69\u7f79\u60a3\u6b64\u75c7\uff0c\u800c\u5973\u5b69\u5b50\u901a\u5e38\u4e0d\u767c\u75c5\u4f46\u6703\u5e36\u6709\u7f3a\u640d\u7684\u57fa\u56e0\u3002\u4e00\u822c\u767c\u75c5\u7684\u904e\u7a0b\u53ef\u7c21\u8ff0\u5982\u4e0b\uff1a\u7537\u5b69\u51fa\u751f\u5f8c\u5927\u81f4\u6b63\u5e38\u767c\u80b2\uff0c\u76f4\u81f3\u4e8c\u81f3\u4e09\u6b72\u5de6\u53f3\uff0c\u7236\u6bcd\u5bdf\u89ba\u5c0f\u5b69\u5728\u8d70\u8def\u3001\u8dd1\u6b65\u6216\u4e0a\u4e0b\u6a13\u68af\u6642\u8207\u5176\u5b83\u6b63\u5e38\u5c0f\u5b69\u4e0d\u540c\uff0c\u6703\u7d93\u5e38\u6027\u7684\u8dcc\u5012\uff0c\u9019\u7a2e\u75c7\u72c0\u6703\u96a8\u8457\u5e74\u9f61\u589e\u9577\u66f4\u52a0\u660e\u986f\uff0c\u4e14\u7a0b\u5ea6\u6108\u52a0\u56b4\u91cd\uff0c\u7531\u65bc\u9aa8\u76c6\u80a2\u7aef\u808c\u8089\u5148\u53d7\u5f71\u97ff\uff0c\u56e0\u6b64\u8d70\u8def\u50cf\u9d28\u5b50\u6216\u9d5d\u8d70\u8def\u7684\u6a23\u5b50\uff0c\u5de6\u53f3\u6416\u64fa\uff0c\u751a\u81f3\u7531\u65bc\u8170\u90e8\u810a\u690e\u65c1\u808c\u8089\u4e5f\u53d7\u5f71\u97ff\uff0c\u9020\u6210\u75c5\u4eba\u810a\u690e\u524d\u5f8c\u5f4e\u66f2\uff0c\u56e0\u6b64\u8d70\u8def\u6642\u5c0f\u8179\u5f80\u524d\u51f8\u3002\u5728\u65e5\u5e38\u751f\u6d3b\u4e2d\uff0c\u7236\u6bcd\u4e5f\u53ef\u4ee5\u89c0\u5bdf\u5230\u5c0f\u5b69\u8e72\u4e0b\u53bb\u62ff\u6771\u897f\u6216\u8e72\u5750\u5ec1\u6240\u6642\u7121\u529b\u8d77\u5750\uff0c\u5fc5\u9808\u4f9d\u8cf4\u9644\u8fd1\u7684\u652f\u6490\u7269\u5354\u52a9\uff0c\u53e6\u5916\u4e00\u500b\u8f03\u660e\u986f\u7684\u73fe\u8c61\uff0c\u5373\u662f\u75c5\u60a3\u7684\u5f8c\u5c0f\u817f\u808c\u6703\u56e0\u7e96\u7dad\u5316\u53ca\u8102\u80aa\u5316\u800c\u5448\u73fe\u5047\u6027\u80a5\u5927\u5373\u529f\u80fd\u5dee\u7684\u80a5\u5927\u73fe\u8c61\u3002\u5c0d\u65bc\u5c1a\u672a\u81f4\u75c5\u7684\u7537\u5b69\uff0c\u6709\u4e00\u7a2e\u8f15\u4fbf\u7684\u6aa2\u67e5\u53ef\u4ee5\u63d0\u65e9\u6e2c\u51fa\u7537\u5b69\u662f\u5426\u4e5f\u5c07\u81f4\u75c5\uff0c\u90a3\u5c31\u662f\u6aa2\u67e5\u8005\u4ee5\u624b\u5fc3\u58d3\u4f4f\u53d7\u6e2c\u8005\u7684\u984d\u982d\uff0c\u4ee4\u5b69\u7ae5\u7528\u529b\u5411\u524d\u7e2e\u982d\u52d5\u4f5c\uff0c\u76ee\u7684\u5728\u6e2c\u9a57\u5176\u9838\u90e8\u6536\u7e2e\u808c\u8089\u7fa4\uff0c\u82e5\u5b69\u7ae5\u662f\u521d\u671f\u75c7\u72c0\uff0c\u5c07\u51fa\u73fe\u529b\u91cf\u6e1b\u5f31\u7684\u8de1\u8c61\uff0c\u7531\u65bc\u9019\u7fa4\u808c\u8089\u662f\u6700\u65e9\u81f4\u75c5\u7684\u808c\u7fa4\u3002\u5018\u82e5\u75c5\u7a0b\u7e7c\u7e8c\u9032\u5c55\uff0c\u5176\u4e0a\u80a2\u7684\u8fd1\u7aef\u7fa4\u808c\u8089\u4e5f\u6703\u6ce2\u53ca\uff0c\u90a3\u6642\u75c5\u7ae5\u5c07\u51fa\u73fe\u8209\u624b\u62ff\u9ad8\u7269\u6216\u68b3\u982d\u9aee\u7684\u56f0\u96e3\u3002\u7531\u65bc\u75c5\u7a0b\u7684\u9032\u5c55\u975e\u826f\u6027\uff0c\u56e0\u6b64\u808c\u8089\u53d7\u640d\u7684\u7a0b\u5ea6\u6703\u8d8a\u52a0\u56b4\u91cd\uff0c\u81f4\u4f7f\u75c5\u7ae5\u80a2\u80a2\u9ad4\u7121\u6cd5\u652f\u6490\u81ea\u5df1\u7684\u9ad4\u91cd\uff0c\u9032\u800c\u9020\u6210\u5404\u95dc\u7bc0\u58d3\u8feb\u6027\u8b8a\u5f62\uff0c\u5fc5\u9808\u9760\u80a2\u67b6\u8f14\u52a9\u6216\u8f2a\u6905\u4ee3\u6b65\uff0c\u751a\u81f3\u7671\u7613\u5728\u5e8a\u4e0a\u3002\u6700\u5f8c\u5f80\u5f80\u56e0\u547c\u5438\u808c\u7fa4\u6216\u5fc3\u81df\u808c\u8089\u53d7\u6ce2\u53ca\uff0c\u81f4\u4f7f\u75c5\u7ae5\u56e0\u547c\u5438\u56f0\u96e3\u6216\u5fc3\u81df\u505c\u6b62\u8df3\u52d5\uff0c\u63d0\u65e9\u7d50\u675f\u5e74\u8f15\u7684\u751f\u547d\u3002\u800c\u8c9d\u514b\u578b\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\uff0c\u5176\u767c\u75c5\u5e74\u9f61\u8f03\u665a\uff0c\u4e14\u81e8\u5e8a\u75c7\u72c0\u8f03\u8f15\uff0c\u5927\u81f4\u75c5\u4eba\u7121\u5176\u5b83\u4f75\u767c\u75c7\uff0c\u53ef\u4ee5\u7d42\u8001\u4e00\u751f\u3002<br \/><br \/><strong>\u25a0\u7a76\u7adf\u4f55\u7a2e\u75c5\u56e0\u9020\u6210\u9019\u7a2e\u9032\u884c\u6027\u7684\u75be\u75c5\u5462?<\/strong><br \/>\u8fd1\u5e7e\u5e74\u4f86\uff0c\u7531\u65bc\u5206\u5b50\u751f\u7269\u5b78\u7684\u7a81\u98db\u731b\u9032\uff0c\u5f9e\u4e8b\u9019\u985e\u7814\u7a76\u7684\u91ab\u751f\u53ca\u751f\u547d\u79d1\u5b78\u7814\u7a76\u8005\uff0c\u904b\u7528\u9019\u7a2e\u79d1\u6280\uff0c\u57281985\u5e74\u6210\u529f\u5730\u5728\u6027\u67d3\u8272\u9ad4(X-chromosome)\u4e0a\u5b9a\u4f4d\u51fa\u5176\u57fa\u56e0\u4f4d\u7f6e\uff0c\u540c\u6642\u767c\u73fe\u81f4\u75c5\u7684\u539f\u56e0\u662f\u6b64\u6bb5\u57fa\u56e0\u6709\u90e8\u4efd\u7f3a\u640d\u6240\u81f4\u3002\u65bc1986~1987\u5e74\u6210\u529f\u5730\u5c07\u9019\u6bb5\u57fa\u56e0\u6240\u63a7\u5236\u5408\u6210\u7684\u86cb\u767d\u8cea\u5b8c\u5168\u5206\u6790\u51fa\u4f86\uff0c\u4e5f\u5c31\u662f\u73fe\u5728\u6240\u77e5\u808c\u7e2e\u86cb\u767d\u8cea(\u808c\u7e2e\u86cb\u767d)\uff0c\u5018\u82e5\u75c5\u7ae5\u7684\u57fa\u56e0\u6709\u4e86\u7f3a\u640d\u6216\u7a81\u8b8a\u5f71\u97ff\u5230\u9019\u86cb\u767d\u8cea\u7684\u88fd\u9020\uff0c\u5c31\u6703\u81f4\u75c5\u3002<br \/>\u808c\u7e2e\u86cb\u767d\u9019\u500b\u86cb\u767d\u8cea\uff0c\u5728\u7d30\u80de\u4e2d\uff0c\u5c24\u5176\u808c\u7d30\u80de\u4e2d\uff0c\u626e\u6f14\u4f55\u7a2e\u89d2\u8272?\u529f\u80fd\u70ba\u4f55\u5462\uff1f\u4e8b\u5be6\u4e0a\uff0c\u808c\u7e2e\u86cb\u767d\u9019\u500b\u86cb\u767d\u8cea\uff0c\u5728\u6b63\u5e38\u4eba\u7684\u808c\u8089\u7d44\u7e54\uff08\u5305\u62ec\u6a6b\u7d0b\u808c\u3001\u5fc3\u808c\u53ca\u5e73\u6ed1\u808c\uff09\u53ca\u5176\u5b83\u50b3\u5c0e\u6d3b\u6027\u7d30\u80de\uff08\u5982\u8996\u7db2\u819c\u7d30\u80de\u3001\u808c\u4e0a\u76ae\u7d30\u80de\u3001\u4e00\u4e9b\u795e\u7d93\u7d50\u5408\u5668\uff1b\u81a0\u8cea\u7d30\u80de\u53ca\u5fc3\u81dfPurkinje\u7e96\u7dad)\u90fd\u53ef\u767c\u73fe\u3002 \u5b83\u4e3b\u8981\u5b58\u5728\u80de\u6f3f\u819c\u53ca\u7279\u6b8a\u80de\u819c(\u5982\u795e\u7d93\u808c\u8089\u63a5\u5408\u8655\uff0c\u808c\u8089\u53ca\u97cc\u5e36\u63a5\u5408\u8655\u53ca\u795e\u7d93\u5143\u63a5\u5408\u8655)\u4e0a\uff0c\u597d\u50cf\u662f\u80de\u819c\u9aa8\u67b6\u4e0a\u7684\u4e00\u90e8\u4efd\uff0c\u53ef\u806f\u63a5\u80de\u5167\u6536\u7e2e\u6027\u7684\u808c\u7e96\u7dad\u53ca\u80de\u5916\u7684\u57fa\u5e95\u819c\uff0c\u56e0\u6b64\u5176\u4e3b\u8981\u7684\u529f\u80fd\u662f\u7dad\u6301\u7d30\u80de\u672c\u8eab\u7684\u5f62\u72c0\uff0c\u5c24\u5176\u5728\u808c\u8089\u9032\u884c\u6536\u7e2e\u6642\uff0c\u53ef\u4ee5\u7dad\u6301\u808c\u7d30\u80de\u7684\u57fa\u672c\u5f62\u614b\u3002\u57fa\u65bc\u6b64\u9805\u91cd\u8981\u529f\u80fd\u6240\u5728\uff0c\u56e0\u6b64\u63a7\u5236\u88fd\u9020\u6b64\u86cb\u767d\u8cea\u7684\u57fa\u56e0\u767c\u751f\u7f3a\u640d\u6216\u7a81\u8b8a\uff0c\u5c31\u6703\u9020\u6210\u7d30\u80de\u4e2d\u542b\u6b64\u7a2e\u86cb\u767d\u8cea\u7684\u91cf\u53ca\u8cea\u767c\u751f\u8b8a\u5316\u3002\u7d30\u80de\u5728\u7f3a\u4e4f\u6b64\u985e\u86cb\u767d\u8cea\u6642\uff0c\u808c\u7d30\u80de\u5f88\u5bb9\u6613\u53d7\u5230\u7269\u7406\u6027\u6a5f\u68b0\u6027\u7684\u640d\u50b7\u800c\u7121\u6cd5\u7dad\u6301\u5176\u57fa\u672c\u7d50\u69cb\uff0c\u5c31\u6703\u9020\u6210\u808c\u7d30\u80de\u4e00\u9023\u4e32\u7684\u8b8a\u5316\uff0c\u6700\u5f8c\u808c\u7d30\u80de\u58de\u6b7b\uff0c\u7e7c\u800c\u88ab\u4e00\u4e9b\u7d50\u7de0\u7d44\u7e54\u6216\u8102\u80aa\u7d44\u7e54\u6240\u53d6\u4ee3\uff0c\u56e0\u6b64\u75c5\u7406\u5b78\u5bb6\u5f88\u5bb9\u6613\u5728\u808c\u8089\u75c5\u7406\u5207\u7247\u4e0a\uff0c\u770b\u5230\u5927\u5927\u5c0f\u5c0f\u4e0d\u6210\u591a\u908a\u5f62\u7684\u808c\u7d30\u80de\uff0c\u7d30\u80de\u8207\u7d30\u80de\u9593\u88ab\u7d50\u7de0\u7d44\u7e54\u6240\u5206\u96e2\uff0c\u6709\u4e9b\u5c40\u90e8\u9084\u53ef\u898b\u6b63\u5728\u58de\u6b7b\u7684\u7d30\u80de\uff0c\u751a\u81f3\u6b63\u88ab\u541e\u566c\u7d30\u80de\u6240\u4fb5\u72af\u3002\u5018\u82e5\u4ee5\u808c\u7e2e\u86cb\u767d\u7684\u6297\u9ad4\u9032\u884c\u7d44\u7e54\u514d\u75ab\u67d3\u8272\uff0c\u5c07\u7121\u6cd5\u770b\u898b\u7d30\u80de\u5468\u908a\u7684\u9aa8\u67b6\u819c\u73fe\u8c61\u6216\u5448\u90e8\u4efd\u7f3a\u640d\u3001\u4e0d\u5b8c\u5168\u7684\u908a\u7de3\u666f\u8c61\u3002<br \/>\u5c0d\u63a7\u5236\u808c\u7e2e\u86cb\u767d\u57fa\u56e0\u7684\u8a8d\u8b58<br \/>\u65bc1986\u5e74\uff0c\u6574\u500b\u808c\u7e2e\u86cb\u767d\u7684\u63a7\u5236\u57fa\u56e0\u5b8c\u5168\u88ab\u5206\u96e2\u51fa\u4f86\uff0c\u5b83\u4e3b\u8981\u4f4d\u65bc\u6027\u67d3\u8272\u9ad4\u7684Xp2l\u8655\uff0c\u9019\u500b\u57fa\u56e0\u975e\u5e38\u7684\u5927\uff0c\u8fd120mKD\u5927\uff0c\u9019\u9ebc\u5927\u7684\u57fa\u56e0\u4e00\u65e6\u767c\u751f\u4e86\u57fa\u56e0\u7f3a\u640d(deletion)\u6216\u9ede\u72c0\u7a81\u8b8a(point muation)\u6642\uff0c\u53ef\u80fd\u5f71\u97ff\u5230\u5176\u8a0a\u606f\u6838\u7cd6\u6838\u9178(mRNA)\u7684\u5206\u88c2\u6216\u86cb\u767d\u8cea\u8f49\u5370\u4e0d\u826f\uff0c\u5c31\u6703\u5f15\u8d77\u808c\u7e2e\u86cb\u767d\u86cb\u767d\u8cea\u7684\u91cf\u6216\u8cea\u7684\u8b8a\u5316\u3002\u76ee\u524d\u8f03\u5927\u7684\u7d71\u8a08\u7d50\u679c\uff0c\u6b64\u985e\u75c5\u7ae5\u7684\u57fa\u56e0\u75c5\u8b8a55%\u662f\u57fa\u56e0\u7f3a\u640d\u30015%\u662f\u57fa\u56e0\u91cd\u8907\u300140%\u662f\u57fa\u56e0\u51fa\u73fe\u9ede\u72c0\u7a81\u8b8a\u6240\u81f4\u3002\u800c\u8c9d\u514b\u578b\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\uff0c\u5247\u662f70%\u662f\u57fa\u56e0\u767c\u751f\u7f3a\u9677\uff0c5%\u662f\u767c\u751f\u57fa\u56e0\u91cd\u8907\uff0c25%\u70ba\u9ede\u72c0\u7a81\u8b8a\u3002<br \/><br \/><strong>\u25a0\u81e8\u5e8a\u91ab\u5e2b\u5f9e\u90a3\u4e9b\u5fb5\u5146\u6216\u6aa2\u9a57\u65b9\u6cd5\u4f86\u8a3a\u65b7\u6216\u7be9\u9078\u75c5\u60a3<\/strong><br \/>\u5f9e\u81e8\u5e8a\u75c7\u72c0\u65b9\u9762\uff1a\u9664\u4e86\u4e0a\u8ff0\u597d\u767c\u5e74\u9f61\uff0c\u5176\u808c\u8089\u53d7\u5f71\u97ff\u6240\u9020\u6210\u8d70\u8def\u3001\u5730\u6b65\u3001\u4e0a\u4e0b\u6a13\u68af\u6216\u8e72\u5750\u56f0\u96e3\u5916\uff0c\u6574\u500b\u904e\u7a0b\u5448\u6f38\u9032\u6027\u7684\u60e1\u5316\u81f3\u6b98\u969c\uff0c\u665a\u671f\u5fc5\u9808\u4f9d\u8cf4\u8f2a\u6905\u6216\u9577\u81e5\u81e5\u5e8a\u3002\u65e9\u671f\u75c5\u7ae5\u7684\u5c0f\u817f\u5f8c\u808c(\u8153\u8178\u808c\u53ca\u6bd4\u76ee\u9b5a\u808c)\u6709\u80a5\u5927\u7684\u73fe\u8c61\uff0c\u9019\u7a2e\u80a5\u5927\u7684\u60c5\u5f62 \uff0c\u6709\u6642\u4e5f\u53ef\u767c\u751f\u5728\u5176\u6bcd\u89aa\u6216\u5176\u59d0\u59b9\u7684\u5c0f\u817f\u5f8c\u808c\u3002<br \/><br \/>\u5f9e\u8840\u6e05\u5b78\u7684\u6aa2\u9a57\u65b9\u9762\uff0c\u6e2c\u5b9a\u808c\u9178\u809d\u503c\uff0c\u9019\u985e\u60a3\u8005\u5728\u808c\u8089\u672a\u5b8c\u5168\u840e\u7e2e\u4e4b\u524d\uff0c\u5176\u808c\u9178\u809d\u503c\uff08CK\uff09\u6703\u975e\u5e38\u9ad8\uff0c\u5f9e\u6578\u5341\u500d\u81f3\u767e\u500d\u589e\u52a0\uff0c\u540c\u6642\u75c5\u7ae5\u7684\u6bcd\u89aa\u6216\u5176\u59d0\u59b9\uff0c\u82e5\u662f\u5e36\u6709\u7f3a\u9677\u7684\u57fa\u56e0\uff0c\u5176\u6578\u503c\u4e5f\u6703\u5f88\u9ad8\u3002<br \/><br \/>\u5f9e\u808c\u8089\u5207\u7247\u65b9\u9762\uff1a\u9664\u4e86\u57fa\u56e0\u8a3a\u65b7\u4e0a\u7684\u5354\u52a9\u5916\uff0c\u6700\u78ba\u5b9a\u7684\u75c5\u7406\u8a3a\u65b7\u4ecd\u7136\u4ee5\u808c\u8089\u5207\u7247\u6240\u7372\u5f97\u7684\u7d44\u7e54\u9032\u884c\u4e00\u822c\u7d44\u7e54\u5316\u5b78\u67d3\u8272\u53ca\u5154\u75ab\u67d3\u8272\uff0c\u9664\u4e86\u4e00\u822c\u7d44\u7e54\u5316\u5b78\u67d3\u8272\u53ef\u89c0\u5bdf\u5230\u808c\u8089\u9032\u884c\u6027\u840e\u7e2e\u8b8a\u5316\u5916\uff0c \u4e26\u53ef\u4ee5\u4ee5\u808c\u7e2e\u86cb\u767d\u7684\u6297\u9ad4\u9032\u884c\u514d\u75ab\u5316\u5b78\u67d3\u8272\u7b49\u78ba\u5b9a\u8a3a\u65b7\uff0c\u751a\u81f3\u53ef\u4ee5\u4ee5Western blot\u65b9\u5f0f\uff0c\u5c07\u808c\u7e2e\u86cb\u767d\u5b9a\u91cf\u6027\u7684\u8a3a\u65b7\u5c24\u5176\u4ee5\u8c9d\u514b\u578b\u6216\u5e36\u6709\u57fa\u56e0\u7f3a\u4e4f\u9677\u7684\u89aa\u4eba\uff0c\u66f4\u53ef\u4ee5\u4ee5\u6b64\u65b9\u6cd5\u78ba\u5be6\u5448\u73fe\u51fa\u5176\u5206\u5b50\u91cf\u986f\u8457\u8b8a\u5c0f\u6216\u8b8a\u5927(\u5c11\u90e8\u4efd)\u4f86\u73fe\u8c61\u78ba\u5b9a\u8a3a\u65b7\u3002<br \/><br \/>\u4ee5multiplex PCR\u7684\u65b9\u6cd5\u6e2c\u5b9a\u60a3\u8005\u6216\u5e36\u6709\u57fa\u56e0\u7f3a\u9677\u7684\u89aa\u4eba\uff0c\u662f\u5426\u6709\u57fa\u56e0\u53bb\u6c27\u6838\u7cd6\u6838\u9178(DNA)\u7684\u7f3a\u9677\uff1a\u7531\u65bc\u675c\u986f\u578b\u53ea\u670955%\u662f\u57fa\u56e0\u7f3a\u9677\uff0c\u800c\u8c9d\u514b\u578b\u53ea\u670970%\u5448\u73fe\u57fa\u56e0\u7f3a\u9677\u3002\u7136\u800c\u76ee\u524d\u5e38\u7528\u7684\u4e5d\u5c0dprimers\u5df2\u53ef\u8a3a\u65b7\u51fa92-97%\u7684\u57fa\u56e0\u7f3a\u9677\u60c5\u5f62\u3002\u9019\u65b9\u9762\u7684\u8a3a\u65b7\u6e96\u78ba\u6027\u96d6\u7136\u4e0d\u4f4e\uff0c\u53ef\u662f\u7562\u7adf\u4ecd\u6709\u8fd145%\u7684\u75c5\u7ae5\u53ef\u80fd\u51fa\u73fe\u9670\u6027\u53ca\u61c9\uff0c\u56e0\u6b64\u808c\u8089\u5207\u7247\u7684\u7d44\u7e54\u5316\u5b78\u67d3\u8272\u53caWestern blot\u7684\u8a3a\u65b7\u4ecd\u7136\u4f54\u6709\u5f88\u5927\u7684\u89d2\u8272\u3002\u540c\u6a23\u5730\u80ce\u5152\u7684\u7f8a\u819c\u7a7f\u523a\u7be9\u6aa2\u662f\u53ef\u4ee5PCR\u5354\u52a9\u90e8\u4efd\u80ce\u5152\u7684\u63d0\u524d\u78ba\u5b9a\u554f\u984c\uff0c\u4f46\u662f\u82e5\u80ce\u5152\u7684\u6aa2\u9a57\u70ba\u9670\u6027\uff0c\u4ecd\u7136\u7121\u6cd5\u6392\u9664\u5047\u9670\u6027\u7684\u72c0\u6cc1\u3002<br \/><br \/><br \/><br \/><strong>\u25a0\u6cbb\u7642\u65b9\u91dd<\/strong><br \/>\u53ef\u5206\u4ee5\u4e0b\u56db\u65b9\u9762\uff1a<\/p><p style=\"font-weight: 400;\"><strong>\u57fa\u56e0\u6cbb\u7642\uff1a<\/strong><br \/>\u7576\u7136\u9019\u7a2e\u662f\u6700\u76f4\u63a5\u6700\u7406\u60f3\u7684\u65b9\u5f0f\uff0c\u5c07\u4e0d\u597d\u7684\u57fa\u56e0\uff0c\u4ee5\u6b63\u5e38\u57fa\u56e0\u53d6\u4ee3\uff0c\u4ee5\u9054\u5230\u6cbb\u7652\u7684\u5883\u754c\uff0c\u76ee\u524d\u9019\u65b9\u9762\u7684\u7814\u7a76\u4ecd\u5728\u63a2\u8a0e\u9032\u884c\u4e2d\uff0c\u6240\u9047\u5230\u7684\u7a2e\u7a2e\u6280\u8853\u56f0\u96e3\u4ecd\u662f\u5f88\u591a\uff0c\u4f46\u662f\u5f88\u591a\u7814\u7a76\u8005\u4ecd\u7136\u62b1\u8457\u83ab\u5927\u7684\u5e0c\u671b\u4ee5\u9020\u798f\u75c5\u7ae5\u3002<br \/><br \/><strong>\u7d30\u80de\u6cbb\u7642\u6cd5\uff1a<\/strong><br \/>\u7c21\u55ae\u5730\u8aaa\uff0c\u5373\u662f\u5229\u7528\u5e36\u6709\u6b63\u5e38\u57fa\u56e0\u7684\u808c\u8089\u7d30\u80de\uff0c\u4ee5\u5be6\u9a57\u5ba4\u7684\u7279\u88fd\u57f9\u990a\u57fa\uff0c\u5927\u91cf\u57f9\u990a\u990a\u6b96\u9019\u4e9b\u808c\u7d30\u80de\uff0c\u4e4b\u5f8c\u4ee5\u7121\u83cc\u6216\u6e1b\u5c11\u7d44\u7e54\u6392\u65a5\u7684\u6280\u8853\uff0c\u5c07\u808c\u7d30\u80de\u6ce8\u5c04\u81f3\u529f\u80fd\u6700\u5927\u7684\u8fd1\u7aef\u808c\u8089\u7fa4\u4e2d\uff0c\u4fc3\u4f7f\u6b63\u5e38\u808c\u7d30\u80de\u7e7c\u7e8c\u5206\u88c2\u589e\u751f\uff0c\u751a\u81f3\u8207\u75c5\u614b\u808c\u7d30\u80de\u878d\u5408\uff0c\u7e7c\u800c\u6162\u6162\u5730\u4ee5\u7269\u7af6\u5929\u64c7\u73fe\u8c61\u53d6\u4ee3\u4e26\u6392\u9664\u75c5\u614b\u57fa\u56e0\uff0c\u5982\u6b64\u6b63\u5e38\u7684\u808c\u7d30\u80de\u76f8\u7e7c\u4f54\u5927\u591a\u6578\uff0c\u81e8\u5e8a\u4e0a\u7d93\u9078\u64c7\u6ce8\u5c04\u7684\u808c\u8089\u7fa4\u81ea\u7136\u6709\u529b\u3002\u4f46\u9019\u7a2e\u65b9\u5f0f\u4ecd\u7136\u6709\u4e00\u4e9b\u6280\u8853\u4e0a\u7684\u554f\u984c\u9700\u8981\u514b\u670d\uff0c\u4e00\u70ba\u7d44\u7e54\u6392\u65a5\u554f\u984c\uff0c\u4e8c\u70ba\u7562\u7adf\u53ea\u662f\u5c40\u90e8\u6539\u5584\u90e8\u4efd\u808c\u8089\u7fa4\uff0c\u4e09\u70ba\u6548\u679c\u96d6\u6709\u9032\u5c55\u4f46\u8981\u9054\u5230\u5065\u5168\u7684\u808c\u8089\u4ecd\u6709\u4e00\u6bb5\u8ddd\u96e2\u3002<br \/><br \/><strong>\u5fa9\u5065\u53ca\u652f\u67b6\u7642\u6cd5\uff1a<\/strong><br \/>\u7531\u65bc\u8a72\u7a2e\u75be\u75c5\uff0c\u662f\u6f38\u9032\u6027\u5730\u60e1\u5316\uff0c\u5018\u82e5\u4e0d\u63d0\u65e9\u4e88\u4ee5\u5404\u7a2e\u652f\u67b6\u8f14\u52a9\u6cbb\u7642\uff0c\u5f88\u591a\u75c5\u7ae5\u5c07\u5728\u5f88\u77ed\u7684\u6642\u9593\u5167\u767c\u751f\u80a2\u9ad4\u95dc\u7bc0\u6523\u7e2e\u8b8a\u5f62\uff0c\u9032\u800c\u6b98\u969c\u9577\u671f\u81e5\u75c5\u5728\u5e8a\uff0c\u66f4\u9032\u800c\u6613\u767c\u751f\u547c\u5438\u8870\u7aed\u6216\u5fc3\u81df\u8870\u7aed\u73fe\u8c61\u3002\u56e0\u6b64\u77ed\u77ed\u4e8c\u5341\u5e74\u7684\u751f\u547d\u5c07\u6d3b\u5728\u4f4e\u54c1\u8cea\u53ca\u75db\u82e6\u904e\u7a0b\u4e2d\uff0c\u56e0\u6b64\u5728\u4ee5\u4e0a\u57fa\u56e0\u53ca\u7d30\u80de\u7642\u6cd5\u5c1a\u672a\u986f\u8457\u7a81\u7834\u4e4b\u524d\uff0c\u9069\u6642\u5730\u627e\u5fa9\u5065\u91ab\u5e2b\uff0c\u505a\u9069\u7576\u7684\u652f\u67b6\u8f14\u52a9\u53ca\u9810\u9632\u8b8a\u5f62\u6cbb\u7642\uff0c\u5c07\u6709\u52a9\u65bc\u75c5\u7ae5\u751f\u6d3b\u5f97\u8f03\u6709\u54c1\u8cea\uff0c\u751f\u547d\u529b\u4e5f\u8f03\u80fd\u5ef6\u9577\u3002\u56e0\u6b64\u76ee\u524d\u570b\u5167\u5916\u5c0d\u9019\u65b9\u9762\u7684\u6cbb\u7642\u4ecd\u7136\u662f\u4e3b\u8981\u65b9\u91dd\u3002<br \/><br \/><strong>\u5fc3\u7406\u7684\u5efa\u8a2d\uff1a<\/strong><br \/>\u5bb6\u5ead\u4e2d\u4e00\u65e6\u767c\u751f\u9019\u6a23\u7684\u75c5\u7ae5\uff0c\u5c0d\u75c5\u4eba\u5c0d\u5bb6\u4eba\u4f86\u8aaa\uff0c\u90fd\u662f\u5f88\u5927\u7684\u6253\u64ca\u4f46\u662f\u9762\u5c0d\u4e8b\u5be6\u53ca\u514b\u670d\u56f0\u96e3\u662f\u6cbb\u7642\u6b64\u75c5\u6700\u5927\u7684\u4e00\u9580\u5b78\u554f\uff0c\u5c24\u5176\u7236\u6bcd\u5bb6\u4eba\u6240\u4ed8\u51fa\u7684\u611b\u5fc3\u8207\u8010\u5fc3\uff0c\u5c0d\u75c5\u7ae5\u662f\u83ab\u5927\u7684\u652f\u67f1\u53ca\u9f13\u52f5\u3002\u56e0\u6b64\u5982\u4f55\u9577\u4e45\u7dad\u6301\u9019\u7a2e\u611b\u5fc3\u8207\u8010\u5fc3\uff0c\u9664\u4e86\u79c9\u6027\u7684\u8868\u73fe\u5916\uff0c\u5b78\u7fd2\u53ca\u5916\u754c\u501f\u529b\u4e5f\u662f\u975e\u5e38\u91cd\u8981\u3002\u8af8\u5982\u53c3\u8207\u75c5\u53cb\u4ff1\u6a02\u90e8\u6216\u76f8\u95dc\u7684\u5354\u6703\u53ca\u5718\u9ad4\uff0c\u5f7c\u6b64\u4e92\u76f8\u9f13\u52f5\u3001\u5b78\u7fd2\u53ca\u4ea4\u63db\u610f\u898b\uff0c\u4f7f\u6bcf\u500b\u5bb6\u5ead\u80fd\u6709\u4fe1\u5fc3\u5730\u6210\u9577\u3002<\/p><p style=\"font-weight: 400;\"><br \/><strong>\u25a0\u66f4\u591a\u4e4b\u8cc7\u6599\u53ca\u5e6b\u52a9<\/strong><br \/>\u4e2d\u83ef\u6c11\u570b\u795e\u7d93\u5b78\u5b78\u6703\u5404\u795e\u7d93\u79d1\u8a13\u7df4\u4e2d\u5fc3\u6216\u5c08\u79d1\u91ab\u5e2b\uff0c\u53ca\u4e2d\u83ef\u6c11\u570b\u808c\u840e\u7e2e\u75c7\u75c5\u53cb\u5354\u6703\u53ef\u63d0\u4f9b\u8cc7\u8a0a\u53ca\u5fc5\u8981\u4e4b\u5e6b\u5fd9\u3002<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-1734\" class=\"elementor-tab-title\" data-tab=\"4\" role=\"button\" aria-controls=\"elementor-tab-content-1734\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">\u5148\u5929\u6027\u9032\u884c\u6027\u808c\u840e\u7e2e\u75c7(\u808c\u5931\u990a\u75c7)<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-1734\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"4\" role=\"region\" aria-labelledby=\"elementor-tab-title-1734\"><div align=\"center\"><span style=\"font-size: xx-small;\">Congenital Muscular Dystrophy<br \/>\u674e\u6b63\u6df3 \u81fa\u4e2d \u4e2d\u570b\u91ab\u85e5\u5b78\u9662 \u795e\u7d93\u5167\u79d1<\/span><br \/>\u3000<\/div><div align=\"left\"><b><span style=\"color: #008000;\">\u4e00\u3001\u4f55\u8b02\u5148\u5929\u6027\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7?<\/span><\/b><br \/>\u9867\u540d\u601d\u7fa9\uff0c\u5148\u5929\u6027\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u4e00\u7a2e\u5f9e\u51fa\u751f\u4fbf\u5b58\u5728\u7684\u808c\u8089\u75be\u75c5\uff0c\u5176\u75c7\u72c0\u662f\u5f9e\u51fa\u751f\u5f8c\u81f3\u516d\u500b\u6708\u5167\uff0c\u4fbf\u51fa\u73fe\u808c\u5f35\u529b\u6e1b\u9000\u3001\u982d\u90e8\u63a7\u5236\u4e0d\u826f\u3001\u808c\u8089\u7121\u529b\u3001\u904b\u52d5\u767c\u5c55\u5ef6\u9072\uff0c\u548c\u808c\u6523\u7e2e\u4e4b\u73fe\u8c61\u3002\u81e8\u5e8a\u4e0a\u5148\u5929\u6027\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u53ef\u5206\u70ba\u4e09\u5927\u985e\uff1a<br \/>1.\u5152\u7ae5\u51fa\u73fe\u7fa4\u5168\u8eab\u6027\u808c\u7121\u529b\u3002<br \/>2.\u5152\u7ae5\u51fa\u73fe\u5168\u8eab\u6027\u808c\u7121\u529b\u5408\u4f75\u5b78\u7fd2\u56f0\u96e3\uff0c\u4f46\u7121\u7672\u7647\u767c\u4f5c\u3002<br \/>3.\u5152\u7ae5\u51fa\u73fe\u5168\u8eab\u6027\u808c\u7121\u529b\u5408\u4f75\u5b78\u7fd2\u56f0\u96e3\u53ca\u773c\u775b\u4e4b\u7570\u5e38\u3002<\/div><div align=\"left\"><br \/><b><span style=\"color: #008000;\">\u4e8c\u3001\u5148\u5929\u6027\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u662f\u5426\u70ba\u907a\u50b3\u6027\u75be\u75c5\uff1f<\/span><\/b><br \/>\u662f\u7684\u3002\u5148\u5929\u6027\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u662f\u4e00\u907a\u50b3\u6027\u75be\u75c5\uff0c\u4f46\u4ecd\u6709\u55ae\u767c\u4e4b\u53ef\u80fd\u3002\u5176\u907a\u50b3\u578b\u5f0f\u70ba\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\uff0c\u5373\u5176\u7236\u6bcd\u90fd\u5fc5\u9808\u662f\u5e36\u539f\u8005\uff0c\u5247\u5b50\u5973\u4efb\u4f55\u4e00\u4eba\u5f97\u5230\u7236\u89aa\u548c\u6bcd\u89aa\u4e4b\u5e36\u539f\u57fa\u56e0\uff0c\u4fbf\u6703\u767c\u75c5\u3002<\/div><div align=\"left\"><br \/><b><span style=\"color: #008000;\">\u4e09\u3001\u5148\u5929\u6027\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u4e4b\u767c\u751f\u6a5f\u7387\u70ba\u4f55\uff1f<\/span><\/b><br \/>\u5148\u5929\u6027\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u4e4b\u6b63\u78ba\u767c\u75c5\u6a5f\u7387\u5f88\u96e3\u8a55\u4f30\uff0c\u56e0\u5f88\u591a\u75c5\u60a3\u70ba\u88ab\u8a3a\u65b7\u51fa\u4f86\uff0c\u4f46\u5927\u7565\u4e4b\u7d71\u8a08\u7d04\u70ba\u4e94\u842c\u540d\u5b30\u5152\u6703\u6709\u4e00\u540d\u7f79\u60a3\u6b64\u75c5\uff0c\u4ee5\u907a\u50b3\u5b78\u89c0\u9ede\u4f86\u770b\uff0c\u82e5\u5176\u7236\u6bcd\u7686\u70ba\u5e36\u539f\u8005\uff0c\u5247\u751f\u51fa\u5b50\u5973\uff0c\u6bcf\u4eba\u5f97\u5230\u6b64\u75c5\u4e4b\u6a5f\u6703\u7686\u70ba\u56db\u5206\u4e4b\u4e00\u3002<\/div><div align=\"left\"><br \/><b><span style=\"color: #008000;\">\u56db\u3001\u5982\u4f55\u8a3a\u65b7\u5148\u5929\u6027\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\uff1f<\/span><\/b><br \/>\u5148\u5929\u6027\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u4e4b\u8a3a\u65b7\u9996\u91cd\u81e8\u5e8a\u8868\u5fb5\u53ca\u6aa2\u9a57\u6578\u64da\uff0c\u82e5\u4e00\u5b30\u5152\u51fa\u73fe\u5728\u4f55\u8b02\u5148\u5929\u6027\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u4e4b\u6bb5\u843d\u4e2d\u6240\u8ff0\u4e4b\u75c7\u72c0\uff0c\u4e14\u5176\u8840\u4e2d\u808c\u8089\u9175\u7d20\u7570\u5e38\u4e0a\u5347\u53ca\u808c\u96fb\u5716\u6aa2\u67e5\u5448\u73fe\u7030\u6f2b\u6027\u808c\u75c5\u8b8a\u4e4b\u8b8a\u5316\u6642\uff0c\u5247\u53ef\u61f7\u7591\u7f79\u60a3\u6b64\u75c5\u4e4b\u53ef\u80fd\u3002\u808c\u8089\u5207\u7247\u6aa2\u67e5\u5247\u70ba\u8b49\u5be6\u6b64\u75c5\u4e4b\u91cd\u8981\u4f9d\u64da\uff0c\u5728\u5149\u5b78\u986f\u5fae\u93e1\u4e0b\u53ef\u898b\uff1a(l).\u808c\u8089\u7e96\u7dad\u5448\u73fe\u5927\u5c0f\u4e0d\u4e00 (2).\u90e8\u4efd\u808c\u7e96\u7dad\u70ba\u8102\u80aa\u53ca\u7d50\u7de0\u7d44\u7e54\u6240\u53d6\u4ee3 (3).\u90e8\u4efd\u808c\u7e96\u7dad\u5728\u7e7c\u7e8c\u9000\u5316\u4e2d\u3002<br \/>\u81f3\u65bc\u73fe\u4eca\u6240\u6700\u91cd\u8996\u4e4b\u5206\u5b50\u751f\u7269\u5b78\u57fa\u56e0\u7f3a\u640d\uff0c\u5728\u5148\u5929\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u5247\u76ee\u524d\u4ecd\u5728\u52aa\u529b\u627e\u5c0b\u4e2d\uff0c\u5c07\u4f86\u4e5f\u8a31\u53ef\u63d0\u4f9b\u4e00\u65e9\u671f\u8a3a\u65b7\u4e4b\u4f9d\u64da\u3002<\/div><div align=\"left\"><br \/><b><span style=\"color: #008000;\">\u4e94\u3001\u5148\u5929\u6027\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u4e4b\u75be\u75c5\u9032\u884c\u901f\u5ea6\u70ba\u4f55\uff1f\u662f\u5426\u6703\u5f71\u97ff\u5230\u58fd\u547d\uff1f<\/span><\/b><br \/>\u5728\u4e00\u822c\u60c5\u6cc1\u4e0b\uff0c\u75c5\u60a3\u5927\u90fd\u7dad\u6301\u5728\u4e00\u7a69\u5b9a\u4e4b\u60c5\u6cc1\uff0c\u4e14\u5b30\u5152\u6703\u96a8\u8457\u5e74\u9f61\u4e4b\u589e\u5927\u800c\u51fa\u73fe\u808c\u8089\u529b\u91cf\u589e\u5f37\u4e4b\u73fe\u8c61\uff0c\u9019\u662f\u56e0\u70ba\u5728\u751f\u9577\u904e\u7a0b\u4e2d\u808c\u8089\u529b\u91cf\u4e4b\u589e\u52a0\u9ad8\u65bc\u6b64\u75c5\u6240\u9020\u6210\u4e4b\u808c\u8089\u50b7\u5bb3\uff0c\u56e0\u6b64\u5927\u90e8\u4efd\u4e4b\u75c5\u60a3\u7686\u80fd\u6709\u4e00\u822c\u4eba\u4e4b\u6b63\u5e38\u58fd\u547d\uff1b\u4f46\u5728\u5c11\u90e8\u4efd\u75c5\u60a3\uff0c\u5176\u75be\u75c5\u9032\u5c55\u6975\u70ba\u5feb\u901f\uff0c\u4ee5\u81f4\u65bc\u9020\u6210\u547c\u5438\u808c\u8089\u7121\u529b\u3001\u547c\u5438\u8870\u7aed\u4e4b\u73fe\u8c61\u3002<\/div><div align=\"left\"><br \/><b><span style=\"color: #008000;\">\u516d\u3001\u76ee\u524d\u5148\u5929\u6027\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u662f\u5426\u6709\u7279\u6b8a\u6cbb\u7642\u65b9\u5f0f\uff1f<\/span><\/b><br \/>\u76ee\u524d\u7121\u53ef\u4ee5\u6cbb\u7652\u4e4b\u65b9\u6cd5\uff0c\u4f46\u56e0\u5148\u5929\u6027\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u5e38\u9020\u6210\u808c\u6523\u7e2e\u4e4b\u73fe\u8c61\uff0c\u56e0\u6b64\u5728\u8a3a\u65b7\u5f8c\u4fbf\u9700\u9577\u671f\u5fa9\u5efa\u6cbb\u7642\u3002\u81f3\u65bc\u76ee\u524d\u52aa\u529b\u4e4b\u57fa\u56e0\u7f3a\u640d\u7814\u7a76\uff0c\u5247\u4e0d\u50c5\u53ef\u63d0\u4f9b\u65e9\u671f\u8a3a\u65b7\u4e4b\u4f9d\u64da\uff0c\u66f4\u5c0d\u5c07\u4f86\u6cbb\u7642\u6b64\u75c5\u63d0\u4f9b\u4e00\u7dda\u66d9\u5149\u3002<\/div><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-1735\" class=\"elementor-tab-title\" data-tab=\"5\" role=\"button\" aria-controls=\"elementor-tab-content-1735\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7(SMA)<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-1735\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"5\" role=\"region\" aria-labelledby=\"elementor-tab-title-1735\"><div align=\"center\"><div align=\"center\"><span style=\"font-size: xx-small;\">Spinal Muscle Atrophy<\/span><\/div><\/div><div align=\"center\"><div align=\"center\"><span style=\"font-size: xx-small;\">\u4e2d\u570b\u91ab\u85e5\u5b78\u9662 \u795e\u7d93\u5167\u79d1 \u674e\u6b63\u6df3 \u91ab\u5e2b<br \/>\u81fa\u7063\u907a\u50b3\u6027\u795e\u7d93\u808c\u8089\u75be\u75c5\u7814\u7a76\u5c0f\u7d44<\/span><\/div><\/div><div align=\"center\"><p align=\"center\">\u00a0<\/p><\/div><div align=\"left\"><b><span style=\"color: #008000;\">\u4e00\u3001\u4f55\u8b02\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7\uff1f<\/span><\/b><br \/>\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7(SMA)\u662f\u4e00\u7fa4\u56e0\u810a\u9ad3\u4e4b\u524d\u89d2\u7d30\u80de\uff08\u904b\u52d5\u795e\u7d93\u5143\uff09\u9000\u5316\u800c\u9020\u6210\u808c\u8089\u840e\u7e2e\u3001\u7121\u529b\u4e4b\u75be\u75c5\u3002\u5176\u808c\u8089\u840e\u7e2e\u70ba\u5c0d\u7a31\u6027\u3001\u4e0b\u80a2\u8f03\u4e0a\u80a2\u56b4\u91cd\u53ca\u8eab\u9ad4\u8fd1\u7aef\u8f03\u9060\u7aef\u6613\u53d7\u4fb5\u72af\u3002\u4f9d\u64da\u767c\u75c5\u4e4b\u5e74\u9f61\u53ca\u75be\u75c5\u4e4b\u56b4\u91cd\u5ea6\u53ef\u5206\u70ba\u4e09\u578b\uff1a<br \/>l.\u56b4\u91cd\u578b\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7\uff08\u5373Werdning-Hoffmann Disease\uff09<br \/>2.\u4e2d\u9593\u578b\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7 (\u5373Intermediate type)<br \/>3.\u8f15\u5ea6\u578b\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7 (\u5373Kudgelberg-Wellander Disease)<\/div><div align=\"left\"><br \/><b><span style=\"color: #008000;\">\u4e8c\u3001\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7\u662f\u5426\u70ba\u907a\u50b3\u6027\u75be\u75c5\uff1f<\/span><\/b><br \/>\u662f\u7684\uff0c\u70ba\u4e00\u907a\u50b3\u6027\u75be\u75c5\uff0c\u4f46\u4ecd\u6709\u55ae\u767c\u6027\u4e4b\u53ef\u80fd\u3002\u5176\u907a\u50b3\u578b\u5f0f\u5728\u56b4\u91cd\u578b\u91cd\u578b\u3001\u4e2d\u9593\u578b\u3001\u53ca\u8f15\u5ea6\u578b\u7686\u70ba\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\uff1b\u5373\u5176\u7236\u6bcd\u90fd\u5fc5\u9808\u662f\u7570\u5e38\u57fa\u56e0\u5e36\u539f\u8005\uff0c\u5247\u5b50\u5973\u4efb\u4f55\u4e00\u4eba\u5f97\u5230\u7236\u89aa\u548c\u6bcd\u89aa\u4e4b\u5e36\u539f\u57fa\u56e0\uff0c\u4fbf\u6703\u767c\u75c5\u3002<br \/>\u3000<\/div><div align=\"left\"><b><span style=\"color: #008000;\">\u4e09\u3001\u810a\u9ad3\u808c\u8089\u840e\u7e2e\u75c7\u4e4b\u767c\u751f\u6a5f\u7387\u70ba\u4f55?<\/span><\/b><br \/>\u810a\u9ad3\u808c\u8089\u840e\u7e2e\u75c7\u4e2d\uff0c\u4ee5\u56b4\u91cd\u578b(\u5373Werdig-Hoffmann Disease)\u70ba\u6700\u5e38\u898b\uff0c\u5176\u5927\u7d04\u662f\u4e8c\u842c\u540d\u5b30\u5152\u4e2d\u6709\u4e00\u540d\u3002\u4ee5\u907a\u50b3\u5b78\u89c0\u9ede\u4f86\u770b\uff0c\u82e5\u5176\u7236\u6bcd\u7686\u70ba\u5e36\u539f\u8005\uff0c\u5247\u51fa\u751f\u4e4b\u5b50\u5973\uff0c\u6bcf\u4eba\u5f97\u5230\u6b64\u75c5\u4e4b\u6a5f\u7387\u7686\u70ba\u56db\u5206\u4e4b\u4e00\u3002<br \/>\u3000<\/div><div align=\"left\"><b><span style=\"color: #008000;\">\u56db\u3001\u5982\u4f55\u8a3a\u65b7\u810a\u9ad3\u808c\u8089\u840e\u7e2e\u75c7\uff1f<\/span><\/b><br \/>\u81e8\u5e8a\u75c7\u72c0\u6700\u91cd\u8981\u4e4b\u4f9d\u64da\uff0c\u4f9d\u4e0d\u540c\u4e4b\u985e\u578b\u800c\u6709\u4e0d\u540c\u4e4b\u75c7\u72c0\uff1a<br \/>1. \u56b4\u91cd\u578b\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7\uff08Werdnig-Hoffmann Disease\uff09\uff1a<br \/>\u5728\u5b50\u5bae\u5167\u6216\u51fa\u751f\u5f8c\u4e00\u500b\u6708\u5167\u4fbf\u51fa\u73fe\u75c7\u72c0\uff0c\u75c5\u60a3\u4e4b\u56db\u80a2\u53ca\u8ec0\u5e79\u5448\u73fe\u56b4\u91cd\u7121\u529b\uff0c\u4e14\u5448\u73fe\u50cf\u9752\u86d9\u4e00\u6a23\u4e4b\u59ff\u52e2\uff0c\u56b4\u91cd\u7684\u808c\u5f35\u529b\u6e1b\u9000\u3001\u9838\u90e8\u63a7\u5236\u3001\u541e\u56a5\u53ca\u547c\u5438\u7686\u56f0\u96e3\u3001\u54ed\u8072\u7121\u529b\uff0c\u4f46\u81c9\u90e8\u4e4b\u8868\u60c5\u904b\u52d5\u6b63\u5e38\uff0c\u808c\u8171\u53cd\u5c04\u6d88\u5931\u3002<br \/>2. \u4e2d\u9593\u578b\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7 :<br \/>\u5176\u75c7\u72c0\u7d93\u5e38\u51fa\u73fe\u65bc\u51fa\u751f\u5f8c\u516d\u500b\u6708\u81f3\u4e00\u5e74\u9593\uff0c\u75c5\u60a3\u4e4b\u4e0b\u80a2\u5448\u5c0d\u7a31\u6027\u4e4b\u7121\u529b\uff0c\u4e14\u4ee5\u80a2\u9ad4\u8fd1\u7aef\u8f03\u56b4\u91cd\uff0c\u60a3\u8005\u7121\u6cd5\u81ea\u884c\u7ad9\u7acb\u53ca\u8d70\u8def\uff0c\u6709\u6642\u53ef\u898b\u5230\u820c\u982d\u6296\u52d5\u53ca\u624b\u90e8\u986b\u6296\u4e4b\u73fe\u8c61\uff0c\u81c9\u90e8\u8868\u60c5\u904b\u52d5\u6b63\u5e38\uff0c\u808c\u8171\u53cd\u5c04\u6d88\u5931\u6216\u6e1b\u5f31\u3002<br \/>3. \u8f15\u5ea6\u578b\u810a\u9ad3\u808c\u8089\u840e\u7e2e\u75c7\uff08Kudgelberg-Wellander Disease\uff09\uff1a<br \/>\u5176\u75c7\u72c0\u5f9e\u51fa\u751f\u6b21\u5e74\u81f3\u5152\u7ae5\u3001\u9752\u5e74\u3001\u6216\u6210\u5e74\u671f\u7686\u53ef\u80fd\u767c\u751f\u3002\u75c5\u60a3\u4ee5\u8f15\u5ea6\u3001\u5c0d\u7a31\u4e4b\u80a2\u9ad4\u8fd1\u7aef\u808c\u8089\u7121\u529b\u70ba\u8868\u5fb5\uff0c\u4e0b\u80a2\u53ca\u4e0a\u80a2\u8f03\u6613\u53d7\u5230\u4fb5\u72af\uff0c\u60a3\u8005\u5728\u8dd1\u6b65\u3001\u8df3\u8e8d\u53ca\u4e0a\u4e0b\u6a13\u68af\u6642\u6703\u6709\u8f15\u5ea6\u4e4b\u4e0d\u4fbf\uff0c\u808c\u8171\u53cd\u5c04\u6e1b\u5f31\u3002<br \/>\u81f3\u65bc\u5728\u5be6\u9a57\u5ba4\u6578\u64da\uff0c\u4e09\u7a2e\u578b\u5f0f\u60a3\u8005\u4e4b\u8840\u4e2d\u808c\u8089\u9175\u7d20\u7686\u70ba\u6b63\u5e38\u6216\u8f15\u5ea6\u4e0a\u5347\uff0c\u800c\u808c\u96fb\u5716\u5247\u5448\u73fe\u53bb\u795e\u7d93\u6027\u4e4b\u8b8a\u5316\uff0c\u808c\u8089\u5207\u7247\u6aa2\u67e5\u70ba\u78ba\u7acb\u8a3a\u65b7\u4e4b\u91cd\u8981\u6b65\u9a5f\uff0c\u5728\u5149\u5b78\u986f\u5fae\u93e1\u4e0b\u5176\u7279\u5fb5\u70ba\u4e00\u5927\u7fa4\u840e\u7e2e\u4e4b\u808c\u7e96\u7dad\u4e2d\u51fa\u73fe\u4e00\u53e2\u53e2\u4e4b\u80a5\u5927\u808c\u7e96\u7dad\uff0c\u5176\u4e2d\u80a5\u5927\u4e4b\u808c\u7e96\u7dad\u7686\u70ba\u7b2c\u4e00\u578b\u808c\u7e96\u7dad\u3002\u81f3\u65bc\u73fe\u4eca\u6240\u6700\u91cd\u8996\u7684\u5206\u5b50\u751f\u7269\u5b78\u57fa\u56e0\u7f3a\u640d\uff0c\u5728\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7\u5247\u76ee\u524d\u4ecd\u5728\u537b\u78ba\u5b9a\u4e2d\uff0c\u5c07\u4f86\u5fc5\u53ef\u63d0\u4f9b\u4e00\u65e9\u671f\u8a3a\u65b7\u4e4b\u4f9d\u64da\u3002<br \/>\u3000<\/div><div align=\"left\"><b><span style=\"color: #008000;\">\u4e94\u3001\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7\u4e4b\u75be\u75c5\u9032\u884c\u901f\u5ea6\u70ba\u4f55\uff1f\u662f\u5426\u6703\u5f71\u97ff\u5230\u58fd\u547d\uff1f<\/span><\/b><br \/>\u4e0d\u540c\u985e\u578b\u4e4b\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7\u6709\u4e0d\u540c\u4e4b\u75c5\u60c5\u8b8a\u5316\uff1a<br \/>l. \u56b4\u91cd\u578b\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7( Werdnig-Hoffmann Disease )\uff1a<br \/>\u96d6\u7136\u808c\u8089\u7121\u529b\u4e0d\u6703\u5448\u73fe\u5feb\u901f\u4e4b\u9032\u884c\uff0c\u4f46\u56e0\u541e\u56a5\u53ca\u547c\u5438\u56f0\u96e3\uff0c\u6b64\u578b\u60a3\u8005\u6613\u7f79\u60a3\u547c\u5438\u9053\u611f\u67d3\uff0c\u5927\u90e8\u5206\u4e4b\u75c5\u60a3\u7686\u65bc\u4e00\u5e74\u5167\u6b7b\u65bc\u80ba\u708e\uff0c\u4e14\u5f88\u5c11\u6709\u75c5\u60a3\u80fd\u6d3b\u904e\u4e09\u6b72\u3002<br \/>2. \u4e2d\u9593\u578b\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7\uff1a<br \/>\u808c\u8089\u7121\u529b\u7d93\u5e38\u70ba\u7de9\u6162\u9032\u884c\u7684\uff0c\u6709\u6642\u6703\u6709\u904b\u52d5\u6a5f\u80fd\u9032\u6b65\u7684\u73fe\u8c61\uff0c\u5176\u9810\u5f8c\u53d6\u6c7a\u65bc\u547c\u5438\u529f\u80fd\u4e4b\u60c5\u6cc1\u3002\u767e\u5206\u4e4b\u4e8c\u5341\u4e94\u4e4b\u75c5\u60a3\u53ef\u80fd\u65bc\u4e8c\u6b72\u524d\u56e0\u547c\u5438\u9053\u611f\u67d3\u800c\u6b7b\u4ea1\uff0c\u81f3\u65bc\u5b58\u6d3b\u8005\uff0c\u53ef\u80fd\u56e0\u7de9\u6162\u9032\u884c\u6027\u4e4b\u808c\u8089\u7121\u529b\u4fb5\u72af\u5230\u808b\u9593\u808c\u53ca\u810a\u690e\u65c1\u4e4b\u808c\u8089\uff0c\u800c\u9020\u6210\u810a\u690e\u5074\u5f4e\uff0c\u56e0\u6b64\u5f71\u97ff\u5230\u80ba\u90e8\u4e4b\u64f4\u5f35\u529f\u80fd\uff0c\u4ee5\u81f4\u547c\u5438\u56f0\u96e3\u3002<br \/>3. \u8f15\u5ea6\u578b\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7\uff08Kudgelberg-Wellander Disease\uff09\uff1a<br \/>\u808c\u8089\u7121\u529b\u7d93\u5e38\u8f03\u4e0d\u6703\u7e7c\u7e8c\u9032\u884c\uff0c\u75c5\u60a3\u9577\u671f\u4e4b\u5b58\u6d3b\u7387\u76f8\u7576\u597d\u3002<br \/>\u3000<\/div><div align=\"left\"><b><span style=\"color: #008000;\">\u516d\u3001\u76ee\u524d\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7\u662f\u5426\u6709\u7279\u6b8a\u4e4b\u6cbb\u7642\u65b9\u6cd5\uff1f<\/span><\/b><br \/>\u76ee\u524d\u4ecd\u7121\u6709\u6548\u4e4b\u7642\u6cd5\uff0c\u5176\u6cbb\u7642\u4ecd\u4ee5\u547c\u5438\u7cfb\u7d71\u4e4b\u7167\u9867\u70ba\u4e3b\uff0c\u82e5\u70ba\u4e2d\u9593\u578b\u53ca\u8f15\u5ea6\u578b\u4e4b\u60a3\u8005\uff0c\u5247\u5fc5\u9808\u52a0\u4ee5\u6ce8\u610f\u4ee5\u4e0d\u50c5\u5728\u5c07\u4f86\u53ef\u63d0\u4f9b\u65e9\u671f\u6e96\u78ba\u4e4b\u8a3a\u65b7\uff0c\u66f4\u5c0d\u6cbb\u7642\u6b64\u75c5\u63d0\u4f9b\u4e00\u7dda\u66d9\u5149\u3002<\/div><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-1736\" class=\"elementor-tab-title\" data-tab=\"6\" role=\"button\" aria-controls=\"elementor-tab-content-1736\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">\u8a8d\u8b58\u80a2\u5e36\u578b\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-1736\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"6\" role=\"region\" aria-labelledby=\"elementor-tab-title-1736\"><div align=\"center\"><span style=\"font-size: xx-small;\">Limb-girdle Type Muscular Dystrophy<\/span><\/div><div align=\"center\"><br \/><span style=\"font-size: xx-small;\">\u674e\u6b63\u6df3 \u81fa\u4e2d \u4e2d\u570b\u91ab\u85e5\u5b78\u9662 \u795e\u7d93\u5167\u79d1<br \/>\u9673\u9806\u52dd \u9ad8\u96c4 \u9ad8\u96c4\u91ab\u5b78\u9662 \u795e\u7d93\u5167\u79d1<\/span><\/div><div align=\"center\"><p>\u00a0<\/p><\/div><div align=\"left\"><p><b><span style=\"color: #008000;\">\u25a0\u524d\u8a00<\/span><\/b><br \/>\u80a2\u5e36\u578b\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\uff0c\u662f\u4e00\u7a2e\u975e\u7279\u7570\u6027\u7684\u81e8\u5e8a\u53ca\u907a\u50b3\u6027\u75be\u75c5\u3002\u57281954\u5e74Walton\u53caNattrass\u91ab\u751f\uff0c\u7b2c\u4e00\u500b\u5c07\u6b64\u75c7\u7279\u5225\u63d0\u51fa\u5206\u8ff0\u5982\u4e0b\uff1a<br \/>1. \u6b64\u75c7\u662f\u7537\u5973\u90fd\u6703\u6ce2\u53ca\u7684\u75be\u75c5;<br \/>2. \u597d\u767c\u7684\u5e74\u9f61\u901a\u5e38\u767c\u751f\u5728\u5341\u6b72\u5de6\u53f3\uff0c\u4f46\u4e5f\u6709\u767c\u751f\u5728\u5341\u81f3\u4e8c\u5341\u5e7e\u6b72\uff1b<br \/>3. \u907a\u50b3\u7684\u65b9\u5f0f\u901a\u5e38\u70ba\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\uff0c\u4f46\u4e5f\u6709\u986f\u6027\u907a\u50b3\u8005;<br \/>4. \u6700\u65e9\u767c\u75c5\u7684\u808c\u8089\u7fa4\u5728\u80a9\u5e36\u7fa4\u808c\u8089\u6216\u5728\u9aa8\u76c6\u5e36\u7fa4\u808c\u8089\uff0c\u901a\u5e38\u70ba\u975e\u5c0d\u7a31\u6027\u4e14\u5e38\u767c\u751f\u5728\u80a9\u5e36\u7fa4;<br \/>5. \u767c\u5c55\u904e\u7a0b\u53ef\u7531\u4e0b\u80a2\u5f80\u4e0b\u80a2\u65b9\u5411\uff0c\u4e5f\u53ef\u7531\u4e0a\u80a2\u5f80\u4e0b\u80a2\u65b9\u5411\u9032\u884c;<br \/>6. \u5f88\u5c11\u56e0\u6b64\u75c7\u9020\u6210\u6d41\u7522\u6216\u808c\u8089\u5047\u6027\u80a5\u5927\u73fe\u8c61;<br \/>7. \u808c\u8089\u840e\u7e2e\u7684\u9032\u884c\u901f\u5ea6\uff0c\u56e0\u75c5\u4f8b\u4e0d\u540c\u800c\u5343\u8b8a\u842c\u5316;<br \/>8. \u82e5\u767c\u75c5\u572820\u81f330\u5e74\u5167\u767c\u75c5\uff0c\u75c5\u60a3\u9020\u6210\u884c\u52d5\u56f0\u96e3\u7684\u60c5\u5f62\u8f03\u56b4\u91cd;<br \/>9. \u9664\u975e\u81f3\u665a\u671f\uff0c\u4e00\u822c\u9020\u6210\u808c\u8089\u6523\u7e2e\u8f03\u5c11\u898b\u3002<br \/>\u7531\u4ee5\u4e0a\u7684\u63cf\u8ff0\u53ca\u4ecb\u7d39\uff0c\u53ef\u77e5\u6b64\u75c7\u7684\u56b4\u91cd\u5ea6\u8f03\u675c\u986f\u578b\u6216\u8c9d\u514b\u578b\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u4f86\u7684\u8f15\uff0c\u540c\u6642\u5728\u81e8\u5e8a\u4e0a\u8207\u984f\u80a9\u80b1\u578b\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\u7684\u4e3b\u8981\u5dee\u5225\uff0c\u5728\u65bc\u6b64\u75c7\u8f03\u5c11\u5f71\u97ff\u5230\u984f\u9762\u808c\u8089\uff0c\u4e14\u907a\u50b3\u65b9\u5f0f\u4ee5\u96b1\u6027\u907a\u50b3\u8f03\u591a\u3002\u5f9e\u5b57\u9762\u4e0a\uff0c\u53ef\u77e5\u9019\u985e\u75be\u75c5\u7684\u597d\u767c\u808c\u8089\u7fa4\u70ba\u80a2\u5e36\u7fa4\u808c\u8089\uff0c\u5982\u80a9\u5e36\u6216\u9aa8\u76c6\u5e36\u7684\u8fd1\u7aef\u808c\u8089\u70ba\u4e3b\u3002<br \/>\u7531\u65bc\u9019\u985e\u75be\u75c5\u6240\u6db5\u84cb\u7684\u8f03\u975e\u7279\u7570\u6027\uff0c\u800c\u53ef\u80fd\u5305\u542b\u4e86\u5176\u4ed6\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7\uff0c\u56e0\u6b64\u5728\u65e5\u5f8c\u5e7e\u5e74\u4e2d\uff0c\u7531\u65bc\u81e8\u5e8a\u53ca\u907a\u50b3\u578b\u7684\u8a3a\u65b7\u9451\u5b9a\u767c\u5c55\uff0c\u57281988\u5e74\u4e16\u754c\u795e\u7d93\u5b78\u6703\u4e2d\uff0c\u808c\u8089\u75be\u75c5\u7684\u7814\u7a76\u7fa4\u958b\u6703\u5c07\u6b64\u985e\u75be\u75c5\u5340\u5206\u70ba\u4e0b\u5217\u4e09\u7d44\u4e9e\u578b\uff1a(\u4e00)\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\u6216\u7a81\u767c\u578b (\u4e8c)\u808c\u8089\u75c5\u8b8a\u4e3b\u8981\u767c\u751f\u65bc\u80a1\u56db\u982d\u808c (\u4e09)\u8f03\u5927\u5e74\u9f61\u767c\u4f5c\u7684\u9ad4\u67d3\u8272\u9ad4\u986f\u6027\u907a\u50b3\u578b\uff1b\u7136\u800c\uff0c\u9019\u7a2e\u5206\u985e\u6cd5\u9678\u7e8c\u5728\u9019\u5e7e\u5e74\u7684\u57fa\u56e0\u9023\u5408\u7814\u7a76\uff0c\u767c\u73fe\u9019\u985e\u75be\u75c5\u53ef\u4ee5\u5176\u4e0d\u540c\u7684\u57fa\u56e0\u75c5\u8b8a\u4f4d\u7f6e\u53ca\u808c\u7e2e\u86cb\u767d(dystrophin)\uff0c\u5340\u5206\u70ba\u4ee5\u4e0b\u4e09\u985e:<br \/>\u56b4\u91cd\u578b\u7684\u5c0f\u5b69\u671f\u767c\u75c5\uff0c\u4e14\u70ba\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\u7684\u808c\u8089\u9032\u884c\u6027\u840e\u7e2e\u75c7(SCARMD)\uff0c\u4e3b\u8981\u767c\u73fe\u5728\u7a81\u5c3c\u897f\u4e9e\u9019\u500b\u5340\u57df\uff0c\u76ee\u524d\u5df2\u77e5\u6b64\u578b\u8d70\u7f3a\u4e4f50Kda\u5927\u5c0f\u7684\u808c\u7e2e\u86cb\u767d(dystrophin)\u95dc\u806f\u7684\u8907\u5408\u86cb\u767d\u4e4b\u809d\u91a3\u86cb\u767d\uff0c\u800c\u5176\u767c\u751f\u75c5\u8b8a\u7684\u57fa\u56e0\u4e3b\u5728\u67d3\u8272\u9ad4\u7b2c13\u5c0d\u7684\u9577\u81c2\u4e0a\u3002<br \/>\u53e6\u4e00\u7a2e\u8f03\u8f15\u5fae\u578b\u7684\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\u7684\u808c\u8089\u9032\u884c\u6027\u840e\u7e2e\u75c7\uff0c\u4e3b\u8981\u767c\u751f\u65bc\u7f8e\u570b \u5370\u5ea6\u5b89\u7d0d\u5dde\u7684Amish \u6c11\u65cf\uff0c\u9019\u985e\u75be\u75c5\u767c\u571f\u6c42\u8b8a\u7684\u57fa\u56e0\u4e3b\u8981\u5728\u67d3\u8272\u9ad4\u7b2c15\u5c0d\u7684\u9577\u81c2\u4e0a\u3002<br \/>\u5e74\u9f61\u8f03\u5927\u767c\u751f\u7684\u9ad4\u67b6\u8272\u9ad4\u986f\u6027\u907a\u50b3\u7684\u808c\u8089\u9032\u884c\u6027\u840e\u7e2e\u75c7\uff0c\u5176\u57fa\u56e0\u4e3b\u8981\u5728\u67d3\u8272\u9ad4\u7b2c5\u5c0d\u7684\u9577\u81c2\u4e0a\u3002<br \/>\u7531\u4ee5\u4e0a\u4e0d\u540c\u968e\u6bb5\u7684\u9032\u5c55\uff0c\u5c0d\u9019\u985e\u75be\u75c5\u7684\u5206\u985e\u60c5\u5f62\uff0c\u53ef\u4ee5\u4e86\u89e3\u6b64\u578b\u75be\u75c5\u7684\u81e8\u5e8a\u8b8a\u5316\u622a\u7136\u4e0d\u540c\uff0c\u53ef\u975e\u5e38\u56b4\u91cd\u8fd1\u4f3c\u675c\u986f\u578b\u6216\u8c9d\u514b\u578b\uff1b\u4e5f\u6709\u8f03\u8f15\u5fae\u53ea\u7d42\u751f\u884c\u52d5\u8f03\u4e0d\u4fbf\u3002\u53e6\u5916\uff0c\u9019\u985e\u7684\u75be\u75c5\u4e5f\u6703\u6ce2\u53ca\u5fc3\u81df\u808c\u8089\uff0c\u4f46\u81e8\u5e8a\u75c7\u72c0\u4ecd\u7136\u8f03\u675c\u986f\u578b\u4f86\u7684\u5c11\u898b\u3002<br \/><br \/><br \/><b><span style=\"color: #008000;\">\u25a0\u81e8\u5e8a\u91ab\u5e2b\u8981\u5982\u4f55\u8a3a\u65b7\u9019\u985e\u75c5\u60a3\u5462?<\/span><\/b><br \/>\u4e00\u4e9b\u975e\u7279\u7570\u6027\u7684\u8840\u6db2\u808c\u9178\u809d\u503c(CK)\u6703\u5347\u9ad8\uff0c\u8868\u793a\u75c5\u60a3\u7684\u840e\u7e2e\u662f\u808c\u8089\u75c5\u8b8a\uff0c\u5728\u56b4\u91cd\u578b\u7684\u5b69\u7ae5\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\u7684\u808c\u8089\u9032\u884c\u6027\u840e\u7e2e\u75c7\u60a3\u8005\uff0c\u5176CK\u503c\u53ef\u4ee5\u5982\u675c\u986f\u578b\u6216\u8c9d\u514b\u578b\u4e00\u822c\u9ad8\uff1b\u808c\u96fb\u5716\u6aa2\u67e5\u5448\u808c\u8089\u75c5\u8b8a\u578b\u8b8a\u5316\uff0c\u5f80\u5f80\u5728\u665a\u671f\u6642\u56e0\u70ba\u808c\u8089\u7e96\u7dad\u5316\u53b2\u5bb3\uff0c\u5e38\u9020\u6210\u6aa2\u67e5\u91dd\u4e0d\u6613\u63d2\u5165\u7684\u73fe\u8c61\uff0c\u6240\u8a18\u9304\u7684\u808c\u8089\u795e\u7d93\u5143\u5927\u70ba\u6e1b\u5c11\uff1b\u808c\u8089\u5207\u7247\u6aa2\u67e5\uff0c\u5f80\u5f80\u8207\u984f\u80a9\u80b1\u578b\u6216\u65e9\u671f\u7684\u675c\u986f\u578b\u6c92\u6709\u7279\u7570\u6027\u7684\u8b8a\u5316\uff0c\u8af8\u5982\u7d30\u80de\u5927\u5c0f\u4e0d\u4e00\uff1b\u8449\u72c0\u578b\u808c\u7e96\u7dad(NADH\u67d3\u8272)\uff0c\u80de\u6838\u5167\u79fb\u7d30\u80de\u6216\u5076\u767c\u6027\u767c\u708e\u7d30\u80de\u53cd\u61c9\uff0c\u4e00\u822c\u96fb\u93e1\u89c0\u5bdf\u4e5f\u7121\u7279\u7570\u6027\u8b8a\u5316\uff0c\u4e5f\u8a31\u53ef\u80fd\u6709\u4e8c\u5ea6\u7c92\u7dda\u9ad4\u589e\u52a0\u73fe\u8c61\uff0c\u70ba\u4e86\u8207\u675c\u986f\u6216\u8c9d\u514b\u5340\u5206\uff0c\u808c\u7e2e\u86cb\u767d(dystrophin)\u6297\u9ad4\u67d3\u8272\u6709\u5fc5\u8981\u65bd\u884c\uff0c\u4ee5\u78ba\u5b9a\u975e\u675c\u986f\u6216\u8c9d\u514b\u808c\u8089\u9032\u884c\u6027\u840e\u7e2e\u75c7\u3002<br \/>\u8f03\u7279\u7570\u6027\u7684\u6aa2\u9a57\uff0c\u4e0d\u5916\u6e2c\u5b9a\u57fa\u56e0\u95dc\u806f\u7a0b\u5ea6\uff0c\u4ee5\u78ba\u5b9a\u662f\u5426\u70ba\u67d3\u8272\u9ad4\u7b2c13\u5c0d\u9577\u81c2\u6216\u7b2c15\u5c0d\u9577\u81c2\u6216\u7b2c5\u5c0d\u9577\u81c2\u95dc\u9023\u7684\u808c\u8089\u9032\u884c\u6027\u808c\u840e\u7e2e\u75c7\uff0c\u7576\u7136\uff0c\u82e5\u5c6c\u65bc\u56b4\u91cd\u5ea6\u5b69\u7ae5\u671f\u767c\u4f5c\u7684\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\u7684\u808c\u8089\u9032\u884c\u6027\u840e\u7e2e\u75c7\uff0c\u53ef\u4ee5\u5728\u808c\u8089\u5207\u7247\u4e0a\u67d35OKDa\u7684\u809d\u5858\u86cb\u767d(adhasin)\u4f86\u78ba\u5b9a\u8a3a\u65b7\u3002<\/p><\/div><div align=\"left\"><p><br \/><b><span style=\"color: #008000;\">\u25a0\u6cbb\u7642\u65b9\u91dd<\/span><\/b><br \/>\u76ee\u524d\u5c0d\u6b64\u75c7\uff0c\u4ecd\u7121\u7279\u6b8a\u7684\u6cbb\u7642\u65b9\u5f0f\uff0c\u4f46\u662f\u5982\u4f55\u7dad\u6301\u5c1a\u5b58\u7684\u808c\u8089\u529f\u80fd\u662f\u6700\u91cd\u8981\u7684\u3002\u56e0\u6b64\u5229\u7528\u5fa9\u5efa\u6cbb\u7642\u53ca\u5404\u7a2e\u652f\u67b6\u7684\u8f14\u52a9\uff0c\u4ee5\u907f\u514d\u808c\u8089\u840e\u7e2e\u53ca\u7dad\u6301\u5750\u7ad9\u59ff\u614b\uff0c\u6539\u5584\u884c\u52d5\u54c1\u8cea\u70ba\u9996\u8981\u76ee\u6a19\u3002\u65e9\u671f\u4ee5\u80ba\u529f\u80fd\u6e2c\u9a57\u53ef\u63d0\u65e9\u78ba\u5b9a\u80ba\u529f\u80fd\u662f\u5426\u53d7\u640d\u7b49\uff0c\u4ee5\u4fbf\u9810\u9632\u6cbb\u7642\uff0c\u6700\u5f8c\u4e43\u4ecd\u7136\u662f\u5bb6\u5ead\u6210\u54e1\u3001\u91ab\u8b77\u4eba\u54e1\u53ca\u793e\u6703\u4eba\u58eb\u7b49\uff0c\u6b63\u9762\u7684\u5fc3\u7406\u652f\u6301\u53ca\u884c\u52d5\u5354\u52a9\uff0c\u662f\u9019\u985e\u60a3\u8005\u6700\u5927\u652f\u52a9\u8005\u3002\u00a0<\/p><\/div><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-1737\" class=\"elementor-tab-title\" data-tab=\"7\" role=\"button\" aria-controls=\"elementor-tab-content-1737\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">\u808c\u5f37\u76f4\u75c7\u8207\u808c\u5f37\u76f4\u578b\u9032\u884c\u6027\u808c\u8089\u840e\u7e2e\u75c7<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-1737\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"7\" role=\"region\" aria-labelledby=\"elementor-tab-title-1737\"><div align=\"center\"><p><span style=\"font-size: xx-small;\">Myotonia and Myotonic Muscular Dystrophy<\/span><\/p><\/div><div align=\"center\"><p><span style=\"font-size: xx-small;\">\u694a\u5fd7\u8d85 \u81fa\u5317 \u81fa\u5927\u91ab\u9662 \u795e\u7d93\u5167\u79d1<\/span><\/p><\/div><div align=\"left\"><p><b><span style=\"color: #008000;\">\u25a0\u808c<\/span><\/b><span style=\"color: #008000;\"><b>\u5f37\u76f4\u75c7\u9808\u77e5<\/b><\/span><br \/><b>\u4ec0\u9ebc\u662f\u808c\u5f37\u76f4?<\/b><br \/>\u808c\u5f37\u76f4(Myotonia)\u662f\u4e00\u7a2e\u808c\u8089\u6536\u7e2e\u5f8c\u4e0d\u6613\u653e\u9b06\u7684\u73fe\u8c61\uff0c\u5728\u81e8\u5e8a\u4e0a\u6572\u6253\u808c\u8089\u5f8c\u53ef\u767c\u73fe\u6536\u7e2e\u5f8c\u5f88\u7de9\u6162\u7684\u624d\u653e\u9b06\u3002\u6709\u808c\u5f37\u76f4\u73fe\u8c61\u7684\u808c\u8089\u75be\u75c5\u901a\u7a31\u70ba\u808c\u5f37\u76f4\u75c7(Myotonic disorders)\u3002\u4f9d\u5176\u539f\u56e0\u53ca\u907a\u50b3\u7684\u6a21\u5f0f\u53ef\u5206\u70ba\u4e0b\u5217\u5e7e\u7a2e\u75be\u75c5\uff1a<\/p><\/div><div align=\"left\"><ul><li><p>\u907a\u50b3\u6027\u7684\uff1a<\/p><\/li><\/ul><p>\u840e\u7e2e\u6027\u808c\u5f37\u76f4(Myotonic dystrophy)<br \/>\u5148\u5929\u6027\u808c\u5f37\u76f4(Congenital myotonia)<br \/>\u5148\u5929\u6027\u526f\u808c\u5f37\u76f4(Paramyotonia Congenita)<br \/>\u8edf\u9aa8\u840e\u7e2e\u6027\u808c\u5f37\u76f4(Chondrodystrophic myotonia, Schwartz-Jampel syndrome)<\/p><ul><li><p>\u5f8c\u5929\u6027\u7684\uff1a<\/p><\/li><\/ul><p>\u7531\u4e00\u4e9b\u85e5\u7269\u53ca\u6bd2\u7d20\u5f15\u8d77\u7684\u808c\u5f37\u76f4\u3002<br \/>\u4ee5\u4e0b\u5c31\u5c0d\u5e7e\u7a2e\u8f03\u5e38\u898b\u7684\u808c\u5f37\u76f4\u75c7\u4f5c\u4e00\u4ecb\u7d39\u3002<br \/><br \/>\u4e00\u3001\u840e\u7e2e\u6027\u808c\u5f37\u76f4(Myotonic dystrophy)<br \/>\u9019\u662f\u808c\u5f37\u76f4\u75c7\u4e2d\u6700\u5e38\u898b\u7684\u4e00\u7a2e\uff0c\u60a3\u8005\u4e00\u822c\u90fd\u5728\u56db\u5341\u6b72\u524d\u767c\u75c5\uff0c\u5c6c\u81ea\u9ad4\u986f\u6027\u907a\u50b3\u3002\u6700\u8fd1\u7684\u7814\u7a76\u986f\u793a\u6b64\u75c5\u662f\u7b2c\u5341\u4e5d\u5c0d\u67d3\u8272\u9ad4\u4e0a\u4e00\u6bb5\u57fa\u56e0\u7570\u5e38\u6240\u81f4\u3002\u60a3\u8005\u6703\u6ce8\u610f\u5230\u6709\u808c\u8089\u4e0d\u6613\u653e\u9b06\u7684\u73fe\u8c61\uff0c\u5e38\u5e38\u624b\u90e8\u5728\u505a\u4e00\u4e9b\u52d5\u4f5c\u5f8c\uff08\u5982\u63e1\u4f4f\u6771\u897f\uff09\u8f03\u4e0d\u6613\u653e\u958b\u3002\u53e6\u5916\u60a3\u8005\u4e5f\u6703\u6ce8\u610f\u5230\u5305\u62ec\u81c9\u90e8\u3001\u9838\u90e8\u3001\u56db\u80a2\uff08\u5c24\u5176\u662f\u8f03\u672b\u7aef\u7684\uff09\u808c\u8089\u90fd\u6703\u6709\u7121\u529b\u53ca\u840e\u7e2e\u7684\u73fe\u8c61\uff0c\u6b64\u75c5\u9664\u4e86\u808c\u8089\u7684\u75c7\u72c0\u4e4b\u5916\uff0c\u9084\u6703\u5f71\u97ff\u5230\u8eab\u9ad4\u4e0a\u5176\u4ed6\u7684\u5668\u5b98\uff0c\u4e3b\u8981\u5305\u62ec\u4e0b\u5217\u5e7e\u9805\uff1a<br \/><br \/>\u4e2d\u6a1e\u795e\u7d93\u7cfb\u7d71\uff1a\u6709\u4e9b\u60a3\u8005\u6709\u667a\u80fd\u4e0d\u8db3\uff0c\u884c\u70ba\u7570\u5e38\u7684\u73fe\u8c61\uff0c\u8868\u60c5\u8f03\u51b7\u6f20\uff0c<br \/><br \/>\u770b\u8d77\u4f86\u7f3a\u4e4f\u611f\u60c5\u3002<br \/><br \/>\u982d\u90e8\u7279\u5fb5\uff1a\u9577\u800c\u5c16\u524a\u7684\u81c9\uff0c\u982d\u9aee\u524d\u51f8\u3002<br \/><br \/>\u773c\u775b\uff1a\u767d\u5167\u969c\u3002<br \/><br \/>\u5fc3\u81df\uff1a\u5fc3\u5f8b\u4e0d\u6574\uff0c\u4e8c\u5c16\u74e3\u812b\u5782\u3002<br \/><br \/>\u547c\u5438\u7cfb\u7d71\uff1a\u63db\u6c23\u529f\u80fd\u4e0d\u8db3\uff0c\u55dc\u7761\uff0c\u8a31\u591a\u60a3\u8005\u6709\u7761\u7720\u6642\u63db\u6c23\u66ab\u505c\u7684\u73fe\u8c61(Sleep Apnea Syndrome)<br \/><br \/>\u5167\u5206\u6ccc\u7cfb\u7d71\uff1a\u7cd6\u5c3f\u75c5\u3001\u7532\u72c0\u817a\u6a5f\u80fd\u4e0d\u8db3\uff0c\u6027\u817a\u6a5f\u80fd\u4e0d\u8db3\uff1b\u7537\u6027\u60a3\u6709\u7537\u5b50\u5973\u4e73\u75c7\u53ca\u776a\u4e38\u840e\u7e2e\u7b49\u73fe\u8c61\u3002<br \/><br \/>\u514d\u75ab\u7cfb\u7d71\uff1a\u514d\u75ab\u529b\u8f03\u5dee\uff0c\u514d\u75ab\u7403\u86cb\u767d\u6e1b\u5c11\u3002<br \/><br \/>\u6d88\u5316\u7cfb\u7d71\uff1a\u80c3\u8178\u8815\u52d5\u8f03\u6162\uff0c\u809a\u8139\uff0c\u4fbf\u7955\uff0c\u81bd\u7d50\u77f3\u3002<br \/><br \/>\u7d9c\u5408\u4ee5\u4e0a\u6240\u8ff0\uff0c\u808c\u5f37\u76f4\u53ea\u662f\u6b64\u75c5\u8a31\u591a\u75c7\u72c0\u4e4b\u4e00\u3002\u4e5f\u5c31\u662f\u56e0\u70ba\u6b64\u75c5\u7684\u81e8\u5e8a\u8868\u73fe\u5341\u5206\u591a\u6a23\u5316\uff0c\u6240\u4ee5\u60a3\u8005\u53ef\u80fd\u56e0\u4e0d\u540c\u7684\u75c7\u72c0\u800c\u9020\u8a2a\u5404\u79d1\u91ab\u5e2b\u3002\u795e\u7d93\u79d1\u91ab\u5e2b\u5f9e\u75c5\u4eba\u5916\u89c0\u53ca\u81e8\u5e8a\u75c7\u72c0\u5c31\u53ef\u8a3a\u65b7\uff0c\u4f46\u662f\u4e00\u4e9b\u5be6\u9a57\u5ba4\u7684\u6aa2\u9a57\u4ecd\u662f\u5fc5\u9808\u7684\uff0c\u4f8b\u5982\u808c\u96fb\u5716\uff0c\u57fa\u56e0\u5206\u6790\uff0c\u808c\u8089\u75c5\u7406\u5207\u7247\u7b49\u3002\u5927\u90e8\u4efd\u7684\u75c5\u4eba\u5176\u75c5\u7a0b\u90fd\u662f\u7de9\u6162\u9032\u884c\u7684\u3002\u95dc\u65bc\u5176\u6cbb\u7642\u3002\u4ecd\u4ee5\u75c7\u72c0\u70ba\u4e3b\u3002<br \/>\u75c5\u4eba\u56e0\u5176\u75c7\u72c0\u7684\u4e0d\u540c\u53ef\u80fd\u8981\u7531\u8a31\u591a\u4e0d\u540c\u79d1\u7684\u91ab\u5e2b\u8a3a\u6cbb\u3002\u5c0d\u65bc\u808c\u5f37\u76f4\u65b9\u9762\uff0c\u4e00\u822c\u7528phenytoin\u6216mexiletine\u6cbb\u7642\uff1b\u80a2\u9ad4\u7121\u529b\u65b9\u9762\u53ef\u7528\u4e00\u4e9b\u652f\u67b6\u6216\u8f2a\u6905\u4f86\u5e6b\u5fd9\uff1b\u5728\u5fc3\u81df\u65b9\u9762\uff0c\u6bcf\u5e74\u8981\u505a\u4e00\u6b21\u5fc3\u96fb\u5716\u6aa2\u5bdf\uff0c\u6709\u50b3\u5c0e\u969c\u7919\u6216\u5fc3\u5f8b\u4e0d\u6574\u6642\u8981\u4ee5\u85e5\u7269\u6cbb\u7642\u6216\u88dd\u7f6e\u4eba\u5de5\u7bc0\u5f8b\u5668\u3002\u547c\u5438\u6a5f\u80fd\u4e0d\u8db3\u6216\u7761\u7720\u4e0d\u8db3\u63db\u6c23\u66ab\u505c\u75c7\u5f8c\u7fa4\u53ef\u7528\u4e00\u4e9b\u8f14\u52a9\u5100\u5668\u5982\u7522\u751f\u9023\u7e8c\u6c23\u9053\u5167\u6b63\u58d3\u7684\u8a2d\u5099\u5728\u7761\u7720\u6642\u4f7f\u7528\u3002\u5728\u773c\u7cbe\u65b9\u9762\uff0c\u6bcf\u5e74\u770b\u4e00\u6b21\u773c\u79d1\u91ab\u5e2b\u751f\uff0c\u5fc5\u8981\u6642\u505a\u767d\u5167\u969c\u6458\u9664\u624b\u8853\u3002\u53e6\u5916\u75c5\u4eba\u5728\u9ebb\u9189\u6642\u6613\u7522\u751f\u4e00\u4e9b\u4f75\u767c\u75c7\uff0c\u6240\u4ee5\u4e0d\u7ba1\u9032\u884c\u4efb\u4f55\u624b\u8853\u6642\u90fd\u8981\u7279\u5225\u7167\u6703\u9ebb\u9189\u79d1\u91ab\u5e2b\u3002\u6700\u5f8c\u56e0\u70ba\u6b64\u75c5\u5c6c\u65bc\u986f\u6027\u907a\u50b3\u4e14\u5916\u986f\u7387\u6975\u9ad8\uff0c\u907a\u50b3\u8aee\u8a62\u66f4\u662f\u91cd\u8981\u3002<br \/><br \/>\u4e8c\u3001\u5148\u5929\u6027\u808c\u5f37\u76f4(Congenital myotonia)<br \/>\u53ef\u5206\u70ba\u81ea\u9ad4\u986f\u6027\u907a\u50b3\u53ca\u81ea\u9ad4\u96b1\u6027\u907a\u50b3\u4e8c\u578b\u3002\u524d\u8005\u4e3b\u8981\u4ee5\u5b30\u5152\u6216\u5e7c\u5152\u671f\u767c\u75c5\u7684\u5ee3\u6cdb\u6027\u808c\u5f37\u76f4\u70ba\u4e3b\uff0c\u75c5\u4eba\u6703\u6709\u808c\u8089\u80a5\u5927\u7684\u73fe\u8c61\uff0c\u5f8c\u8005\u4ee5\u5b69\u7ae5\u671f\u767c\u75c5\u7684\u808c\u5f37\u76f4\u53ca\u9060\u7aef\u808c\u8089\u7121\u529b\u70ba\u4e3b\u3002<br \/><br \/>\u4e09\u3001\u5148\u5929\u6027\u526f\u808c\u5f37\u76f4(Paramyotonia cogenita)<br \/>\u5c6c\u81ea\u9ad4\u986f\u6027\u907a\u50b3\uff0c\u60a3\u8005\u6709\u5168\u8eab\u6027\u7684\u808c\u5f37\u76f4\u73fe\u8c61\uff0c\u75c7\u72c0\u6703\u56e0\u63a5\u89f8\u5230\u51b7\u7684\u74b0\u5883\u800c\u52a0\u91cd\u3002\u6709\u4e9b\u75c5\u4eba\u6709\u5468\u671f\u6027\u9ebb\u75fa\u7684\u73fe\u8c61\u3002<br \/><br \/>\u56db\u3001\u8edf\u9aa8\u840e\u7e2e\u6027\u808c\u5f37\u76f4(Chondrodystrophic myotonia)<br \/>\u9ad4\u77ee\uff0c\u95dc\u7bc0\u6d3b\u52d5\u5ea6\u53d7\u9650\uff0c\u591a\u91cd\u9aa8\u9abc\u7570\u5e38\uff0c\u808c\u8089\u50f5\u786c\u53ca\u7279\u6b8a\u7684\u81c9\u90e8\u7279\u5fb5\u3002<br \/>\u7d50\u8ad6\uff1a\u5404\u7a2e\u808c\u5f37\u76f4\u75c7\u7684\u60a3\u8005\uff0c\u61c9\u8207\u795e\u7d93\u79d1\u91ab\u5e2b\u5408\u4f5c\uff0c\u5b9a\u671f\u7684\u8ffd\u8e64\u6cbb\u7642\uff0c\u8b93\u75be\u75c5\u5e36\u60a8\u7684\u75db\u82e6\u8207\u4e0d\u4fbf\u6e1b\u81f3\u6700\u4f4e\u7a0b\u5ea6\uff0c\u958b\u5275\u66f4\u6bcf\u7f8e\u597d\u7684\u4eba\u751f\u3002<\/p><p>\u00a0<\/p><p><span style=\"color: #008000;\"><b>\u25a0\u808c\u5f37\u76f4\u6027\u9032\u884c\u578b\u808c\u8089\u840e\u7e2e\u75c7<\/b><\/span><br \/>\u5178\u578b\u7684\u808c\u5f37\u76f4\u6027\u9032\u884c\u578b\u808c\u8089\u840e\u7e2e\u75c7\u767c\u751f\u65bc\u6210\u5e74\u4eba\uff0c\u65e9\u671f\u75c5\u4eba\u53ea\u6703\u767c\u89ba\u80fd\u767c\u73fe\u80a2\u9ad4\u6709\u5f37\u76f4\u75c7\uff0c\u5982\u63e1\u62f3\u7528\u529b\u5f8c\uff0c\u9b06\u958b\u624b\u8f03\u56f0\u96e3\uff0c\u56e0\u6b64\u5728\u5beb\u5b57\u6216\u63e1\u6771\u897f\u505a\u4e8b\u6642\uff0c\u81ea\u6c7a\u52d5\u4f5c\u8f03\u6162\u9072\u7de9\uff0c\u6162\u534a\u62cd\u6216\u808c\u8089\u75bc\u75db\u3002\u5728\u5b69\u7ae5\u968e\u6bb5\uff0c\u4e5f\u8a31\u4ed4\u7d30\u89c0\u5bdf\u53ef\u80fd\u767c\u73fe\u5c0f\u5b69\u7684\u81c9\u578b\u8f03\u9577\uff0c\u540c\u6642\u5408\u4f75\u8f15\u5fae\u7684\u9f3b\u97f3\u3002\u7576\u5e74\u7d00\u8f03\u9577\u4e4b\u5f8c\uff0c\u808c\u8089\u7121\u529b\u7684\u73fe\u8c61\u624d\u6703\u51fa\u73fe\uff0c\u800c\u9019\u7a2e\u7121\u529b\u662f\u8f03\u7de9\u6162\u9032\u5c55\uff0c\u901a\u5e38\u9838\u90e8\u6536\u7e2e\u808c\u70ba\u6700\u65e9\u767c\u751f\u808c\u8089\u7121\u529b\u7684\u4e00\u7fa4\u808c\u8089\uff0c\u5176\u4e2d\u4ee5\u80f8\u9396\u4e73\u7a81\u808c\u70ba\u6700\u660e\u986f\u840e\u7e2e\u7684\u4e00\u584a\u808c\u8089\uff0c\u4e4b\u5f8c\u5176\u5b83\u5927\u5c0f\u808c\u8089\u90fd\u6703\u53d7\u4fb5\u72af\uff0c\u5305\u62ec\u81c9\u90e8\u3001\u773c\u77bc\u808c\u3001\u820c\u808c\u3002\u808c\u5f37\u76f4\u75c7\u9019\u500b\u73fe\u8c61\u5728\u51b0\u51b7\u7684\u51ac\u5929\u6216\u89f8\u6478\u51b7\u6c34\u6642\u66f4\u5bb9\u6613\u767c\u751f\u3002\u9019\u7a2e\u75be\u75c5\u4e5f\u662f\u4e00\u7a2e\u9ad4\u67d3\u8272\u9ad4\u986f\u6027\u907a\u50b3\uff0c\u56e0\u6b64\u5bb6\u65cf\u53f2\u975e\u5e38\u660e\u986f\uff0c\u4e4e\u5747\u7d04\u5341\u842c\u4eba\u53e3\u5c31\u67093~5\u4f4d\u60a3\u8005\u3002\u9664\u4e86\u808c\u8089\u53d7\u4fb5\u72af\u5916\uff0c\u5c1a\u6709\u591a\u7a2e\u7cfb\u7d71\u53d7\u5230\u5f71\u9957\u7684\u75be\u75c5\u3002<br \/><br \/><br \/><span style=\"color: #008000;\"><b>\u25a0\u5178\u578b\u7684\u81e8\u5e8a\u8868\u5fb5\u7c21\u8ff0<\/b><\/span><br \/>\u5916\u8868\u81c9\u578b\u9577\u4e14\u4e0b\u5df4\u54af\u5f80\u4e0b\u6389\uff0c\u4e0a\u5507\u5f80\u4e0a\u54af\u5448\u9b5a\u5c16\u5634\u578b\uff0c\u9873\u808c\u54ac\u808c\u5448\u51f9\u9677\uff0c\u96d9\u773c\u76ae\u7565\u4e0b\u5782\uff0c\u5728\u7537\u6027\u6709\u984d\u982d\u524d\u79bf\u72c0\uff0c\u8f15\u5fae\u767d\u5167\u969c\uff0c\u9838\u90e8\u6536\u7e2e\u808c\u4e5f\u51fa\u73fe\u840e\u7e2e\u72c0\u5448\u5929\u9d5d\u982d\u3002\u81e8\u5e8a\u4e0a\u6709\u5169\u7a2e\u578b\u614b\uff0c\u4e00\u70ba\u56db\u80a2\u808c\u8089\u56b4\u91cd\u5730\u53d7\u4fb5\u72af\uff0c\u53e6\u4e00\u578b\u5247\u81c9\u90e8\u808c\u8089\u8f03\u56b4\u91cd\uff0c\u56db\u80a2\u808c\u8089\u8f03\u8f15\u5fae\uff0c\u7136\u800c\u9019\u4e00\u578b\u7684\u75c5\u60a3\u767c\u75c5\u8f03\u65e9\uff0c\u5b30\u5152\u671f\u5c31\u53ef\u5bdf\u89ba\uff0c\u540c\u6642\u6703\u5408\u4f75\u667a\u529b\u6e1b\u4f4e\u7537\u6027\u6027\u7121\u80fd\u3002\u9019\u578b\u75c5\u60a3\u96a8\u8457\u5e74\u7d00\u589e\u9577\uff0c\u8072\u8abf\u6709\u69cb\u97f3\u56f0\u96e3\u53ca\u9f3b\u97f3\u73fe\u8c61\uff0c\u6108\u5e74\u8f15\u767c\u4f5c\uff0c\u5c07\u4f86\u767c\u751f\u80a2\u9ad4\u6b98\u969c\u6a5f\u6703\u4e5f\u6108\u5927\uff0c\u5fc5\u9808\u4ee5\u8f2a\u6905\u4ee3\u6b65\uff0c\u5927\u7d0440~50\u591a\u6b72\u5de6\u53f3\uff0c\u5e38\u56e0\u5fc3\u80ba\u8870\u7aed\u6b7b\u4ea1\u3002\u6b64\u75c7\u9664\u4e86\u808c\u8089\u53d7\u4fb5\u72af\u5916\uff0c\u5176\u5b83\u5982\u5167\u5206\u6ccc\u7cfb\u7d71\u4e5f\u6703\u53d7\u4fb5\u72af\uff0c\u5305\u62ec\u7532\u72c0\u817a\u529f\u80fd\u3001\u80f0\u5cf6\u817a\u529f\u80fd\u3001\u751f\u6b96\u529f\u80fd\u53ca\u4e0b\u8996\u4e18\u529f\u80fd\u8b8a\u5dee\u3002\u56e0\u6b64\u6703\u9020\u6210\u7532\u72c0\u817a\u529f\u80fd\u904e\u4f4e\u7684\u76ae\u4e0b\u6c34\u816b\u3001\u7cd6\u5c3f\u75c5\u53ca\u776a\u4e38\u840e\u7e2e\uff0c\u5973\u6027\u9020\u6210\u4e0d\u5b55\u75c7\uff0c\u7fd2\u6163\u6027\u6d41\u7522\u53ca\u6708\u7d93\u4e0d\u9806\u3002\u53e6\u5916\u5fc3\u808c\u53d7\u4fb5\u72af\uff0c\u53ef\u9020\u6210\u5fc3\u81df\u50b3\u5c0e\u53d7\u963b\u7919\u3002<br \/><br \/><br \/><span style=\"color: #008000;\"><b>\u25a0\u90a3\u4e9b\u81e8\u5e8a\u8a3a\u65b7\u53ef\u4ee5\u5e6b\u52a9\u8a3a\u65b7?<\/b><\/span><br \/>\u81e8\u5e8a\u7684\u6572\u8a3a\uff0c\u4ee5\u6aa2\u67e5\u7528\u7684\u53e9\u8a3a\u69cc\uff0c\u8f15\u6572\u75c5\u60a3\u7684\u6536\u7e2e\u62c7\u6307\u77ed\u808c\u6216\u820c\u808c\u53ef\u660e\u986f\u767c\u73fe\u53d7\u6572\u8a3a\u7684\u808c\u8089\u5448\u73fe\u6536\u7e2e\u800c\u5ef6\u9577\u8212\u5f35\u7684\u8de1\u8c61\uff0c\u53eb\u201c\u53e9\u8a3a\u808c\u5f37\u76f4\u75c7\u201d\u3002<br \/><br \/>\u808c\u96fb\u5716\u7684\u6aa2\u67e5\uff0c\u9664\u4e86\u4e00\u822c\u808c\u75c5\u8b8a\u7684\u7d50\u679c\u5916\uff0c\u6700\u7279\u6b8a\u5730\u5c31\u662f\u4e00\u65e6\u79fb\u52d5\u6aa2\u67e5\u8a18\u9304\u91dd\u6216\u525b\u63d2\u5165\u53d7\u6aa2\u808c\u8089\u6642\uff0c\u808c\u96fb\u5716\u6a5f\u7acb\u523b\u51fa\u73fe\u81ea\u767c\u6027\u7684\u602a\u8072\u5982\u6469\u6258\u8eca\u53cd\u8986\u52a0\u6cb9\u7684\u8072\u97f3\uff0c\u8a18\u9304\u7d19\u4e0a\u53ef\u898b\u6210\u947d\u77f3\u578b\u7684\u9023\u7e8c\u6027\u904b\u52d5\u5143\u6ce2\u3002\u6b64\u5373\u201c\u808c\u96fb\u5716\u808c\u5f37\u76f4\u75c7&#8221;\u3002<br \/><br \/>\u808c\u8089\u5207\u7247\u6aa2\u67e5\uff1a\u6709\u4e00\u4e9b\u7279\u7570\u53ca\u975e\u7279\u7570\u6027\u7684\u8b8a\u5316\uff0c\u9664\u4e86\u808c\u8089\u9032\u884c\u6027\u840e\u7e2e\u8b8a\u5316\uff0c\u53e6\u5916\u53ef\u898b\u7b2c\u4e00\u578b\u808c\u7e96\u7dad\u7d30\u80de\u840e\u7e2e\u53ca\u53ca\u7d30\u80de\u6838\u5167\u79fb\u52d5\u73fe\u8c61\u3002<br \/><br \/>\u57fa\u56e0\u7684\u6aa2\u67e5\uff1a\u6b64\u75c7\u70ba\u7b2c\u5341\u4e5d\u5c0d\u67d3\u8272\u9ad4\u4e0a\u57fa\u56e0\u767c\u751f\u91cd\u8986\u51fa\u73fe\u591a\u6b21CTG\u7684\u5e8f\u78bc\uff0c\u9019\u7a2e\u91cd\u8986\u51fa\u73fe\u5e8f\u78bc\u7684\u6b21\u6578\u591a\u5be1\u8207\u81e8\u5e8a\u75c7\u72c0\u7684\u56b4\u91cd\u5ea6\u6210\u6b63\u6bd4\u3002\u518d\u5247\u73fe\u5728\u6b63\u8f49\u5370\u51fa\u7684\u86cb\u767d\u53ef\u80fd\u8207myotonin-protein-kinase\u6d3b\u6027\u6709\u95dc\u3002\u81f3\u65bc\u6b64\u86cb\u767d\u6d3b\u6027\u904e\u9ad8\u6216\u904e\u4f4e\u9020\u6210\u6b64\u7a2e\u75c7\u72c0\uff0c\u4ecd\u6709\u5f85\u89c0\u5bdf\u3002<br \/><br \/><br \/><br \/><span style=\"color: #008000;\"><b>\u25a0\u6cbb\u7642\u65b9\u91dd<\/b><\/span><br \/>\u5fa9\u5065\u53ca\u80a2\u67b6\u7684\u6cbb\u7642\u662f\u6700\u4e3b\u8981\uff0c\u5982\u8db3\u8e1d\u5f97\u56fa\u5b9a\u67b6\uff0c\u53ef\u4ee5\u4f7f\u75c5\u4eba\u7684\u8db3\u90e8\u4e0b\u5782\u5fa9\u5f97\u6539\u5584\u3002<br \/>\u85e5\u7269\u7684\u6cbb\u7642\uff1a\u4e3b\u8981\u91dd\u5c0d\u808c\u5f37\u76f4\u6027\u75c7\u72c0\uff0c\u53ef\u4ee5\u4ee5quinine\u3001dilantin\u3001Carbamazepine\u3001procainamide\u6216diamox\u63a7\u5236\uff0c\u4f46\u662f\u5c0d\u6574\u500b\u75be\u75c5\u7684\u9032\u5c55\u537b\u7121\u591a\u5927\u6539\u5584\u4e4b\u8655\u3002<\/p><\/div><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-1738\" class=\"elementor-tab-title\" data-tab=\"8\" role=\"button\" aria-controls=\"elementor-tab-content-1738\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">\u808c\u840e\u7e2e\u75c7 101 \u554f \u8207 \u7b54<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-1738\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"8\" role=\"region\" aria-labelledby=\"elementor-tab-title-1738\"><div align=\"center\"><p><span style=\"font-size: xx-small;\">\u4e2d\u83ef\u6c11\u570b\u808c\u840e\u7e2e\u75c5\u53cb\u5354\u6703<br \/>\u674e\u7e7c\u5e9a\u8b6f\/\u9673\u9806\u52dd \u91ab\u5b78\u7528\u8a9e\u4fee\u8a02<br \/>\uff08\u8a3b:\u4ee5\u4e0b\u8cc7\u6599\u6709\u4e9b\u53ef\u80fd\u56e0\u65b0\u7684\u767c\u73fe\u800c\u4e0d\u5408\u6642\u5b9c\uff0c\u8acb\u8a62\u554f\u5c08\u5bb6\uff09<\/span><\/p><\/div><div align=\"left\"><p class=\"auto-style1\">Q1.\u4ec0\u9ebc\u53eb\u505a\u808c\u539f\u6027\u808c\u8089\u840e\u7e2e\u75c7\uff1f<\/p><p class=\"auto-style2\">A:\u808c\u539f\u6027\u808c\u8089\u840e\u7e2e\u75c7\u662f\u4e00\u7fa4\u808c\u8089\u75be\u75c5\u7684\u7e3d\u7a31\uff0c\u9019\u4e9b\u75be\u75c5\u5927\u90e8\u4efd\u662f\u57fa\u56e0\u4e0d\u6b63\u5e38\u9020\u6210\u808c\u8089\u9010\u6f38\u840e\u7e2e\uff0c\u4e26\u4f34\u96a8\u8457\u7121\u529b\u4ee5\u53ca\u8b8a\u5f62\u7684\u73fe\u8c61\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q2.\u9019\u4e9b\u75be\u75c5\u6703\u50b3\u67d3\u55ce\uff1f\u00a0<\/p><p class=\"auto-style2\">A:\u4e0d\u6703\u3002\u00a0<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q3.\u808c\u8089\u840e\u7e2e\u75c7\u7576\u4e2d\uff0c\u54ea\u4e00\u7a2e\u985e\u578b\u6700\u5e38\u898b\u800c\u4e14\u90fd\u4fb5\u72af\u7537\u7ae5\u7684\uff1f<\/p><p class=\"auto-style2\">A:\u9019\u7a2e\u985e\u578b\u7a31\u70ba\u675c\u986f\u578b\u808c\u8089\u840e\u7e2e\u75c7(Duchenne Muscular Dystrophy \u7c21\u7a31DMD)\u3002\u75c7\u72c0\u57282-6\u6b72\u9593\u986f\u73fe\u3002DMD\u662f\u6cd5\u570b\u7c4d\u91ab\u751fDuchenne\u9996\u6b21\u65bc1861\u5e74\u5c0d\u6b64\u75c7\u6709\u6240\u63cf\u8ff0\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q4.\u81e8\u5e8a\u4e0aDMD\u6709\u54ea\u4e9b\u524d\u671f\u7684\u5fb5\u5146\uff1f\u00a0<\/p><p class=\"auto-style2\">A:\u521d\u671f\u5fb5\u5146\u901a\u5e38\u6709(1)\u8d77\u6b65\u8f03\u665a(2)\u505a\u76f4\u7acb\u8df3\u8e8d\u6709\u56f0\u96e3(3)\u6b65\u4f10\u6416\u6643(4)\u7531\u5730\u4e0a\u8d77\u8eab\u6709\u56f0\u96e3\u7b49\u73fe\u8c61\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q5.\u81e8\u5e8a\u4e0aDMD\u7a0d\u5f8c\u6709\u54ea\u4e9b\u865b\u5f31\u7684\u5fb5\u5146\uff1f<\/p><p>A:\u7a0d\u5f8c\u865b\u5f31\u7684\u5fb5\u5146\u5305\u62ec(1)\u7531\u6905\u5b50\u8d77\u8eab\u6709\u56f0\u96e3(2)\u7121\u6cd5\u4ee5\u6b63\u5e38\u7684\u59ff\u52e2\u722c\u6a13\u68af(3)\u5bec\u6b65\u6b65\u5c65\u5e73\u8861\u56f0\u96e3\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q6.\u808c\u840e\u7e2e\u75c7\u662f\u5982\u4f55\u907a\u50b3\u7684\uff1f<\/p><p class=\"auto-style2\">A:\u808c\u840e\u7e2e\u75c7\u662f\u7531\u96d9\u89aa\u4e4b\u4e00\uff08\u6216\u96d9\u89aa\uff09\u7684\u4e0d\u6b63\u5e38\u57fa\u56e0\u6240\u907a\u50b3\u7684\u3002\u4eba\u9ad4\u5927\u7d04\u6709\u4e8c\u842c\u500b\u57fa\u56e0\uff0c\u9019\u4e9b\u57fa\u56e0\u5305\u542b\u7528\u4f86\u5f62\u6210\u4ee5\u53ca\u7dad\u6301\u8eab\u9ad4\u7684\u6307\u4ee4\uff0c\u7279\u5b9a\u7684\u57fa\u56e0\u51fa\u932f\uff0c\u5c31\u6703\u5c0e\u81f4\u808c\u8089\u840e\u7e2e\u75c7\u3002\u6bcf\u500b\u4eba\u7684\u57fa\u56e0\u90fd\u662f\u6210\u5c0d\u7684\uff0c\u4f86\u81ea\u7236\u6bcd\u5404\u4e00\u500b\u3002\u6709\u4e9b\u60c5\u6cc1\uff0c\u53ea\u8981\u4e00\u500b\u57fa\u56e0\u51fa\u932f\u5c31\u8db3\u4ee5\u5f15\u767c\u808c\u8089\u840e\u7e2e\u75c7\uff1b\u6709\u4e9b\u5247\u5fc5\u9808\u5169\u500b\u57fa\u56e0\u90fd\u51fa\u932f\u624d\u6703\u81f4\u75c5\u3002<br \/>\u4f8b\u5982\uff0c\u5927\u591a\u6578\u80a2\u5e36\u578b\u808c\u840e\u7e2e\u75c7\u60a3\u8005\u7684\u96d9\u89aa\u90fd\u5e36\u6709\u4e00\u500b\u4e0d\u6b63\u5e38\u7684\u57fa\u56e0\uff0c\u4f46\u6c92\u6709\u767c\u75c5\u3002\u9019\u4e9b\u5404\u5e36\u6709\u4e00\u500b\u51fa\u932f\u7684\u57fa\u56e0\uff0c\u4f46\u6c92\u6709\u767c\u75c5\u7684\u7236\u6bcd\u6240\u751f\u7684\u5b50\u5973\u6709\u56db\u5206\u4e4b\u4e00\u7684\u6a5f\u7387\uff0c\u6703\u907a\u50b3\u5230\u5169\u500b\u51fa\u932f\u7684\u57fa\u56e0\u3002<br \/>\u9019\u7a2e\u985e\u578b\u7684\u808c\u840e\u7e2e\u75c7\u53ef\u80fd\u907a\u50b3\u7d66\u7537\u5b69\uff0c\u4e5f\u53ef\u80fd\u907a\u50b3\u7d66\u5973\u5b69\u3002\u80a2\u5e36\u578b\u808c\u840e\u7e2e\u75c7\u7684\u907a\u50b3\u578b\u614b\uff0c\u91ab\u5b78\u4e0a\u7684\u8853\u8a9e\u7a31\u4e4b\u70ba\u300c\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\uff08\u907a\u50b3\uff09\u300d\u3002\u00a0<br \/>\u984f\u80a9\u80b1\u578b\u4ee5\u53ca\u808c\u5f37\u76f4\u578b\u808c\u840e\u75c7\u7684\u60a3\u8005\uff0c\u53ea\u8981\u6709\u4e00\u500b\u57fa\u56e0\u4e0d\u5b8c\u6574\uff0c\u5c31\u6703\u767c\u75c5\u3002\u5176\u96d9\u89aa\u81f3\u5c11\u6709\u4e00\u4eba\u4e5f\u7f79\u60a3\u6b64\u75c7\u624d\u6703\u907a\u50b3\uff08\u9ad4\u67d3\u8272\u9ad4\u986f\u6027: \u907a\u50b3\u578b\u614b\uff09\u3002\u6b64\u578b\u4e5f\u53ef\u4ee5\u50b3\u7d66\u7537\u6027\u6216\u5973\u6027\u3002\u6709\u6642\u60a3\u8005\u7684\u7236\u6216\u6bcd\u53ef\u80fd\u56e0\u70ba\u75c7\u72c0\u5f88\u8f15\u5fae\uff0c\u76f4\u5230\u665a\u5e74\u624d\u77e5\u9053\u81ea\u5df1\u4e5f\u7f79\u60a3\u6b64\u75c7\u3002<br \/>\u675c\u986f\u578b\u808c\u8089\u840e\u7e2e\u75c7\u662f\u7531\u6bcd\u89aa\u5e36\u6709\u7f3a\u640d\u7684\u57fa\u56e0\uff0c\u5c07\u75be\u75c5\u50b3\u7d66\u5152\u5b50\u3002\uff08\u6027\u806f\u96b1\u6027\u907a\u50b3\u578b\u5f0f\uff09\u5e36\u56e0\u8005\u7684\u6bcd\u89aa\u6240\u751f\u4e0b\u7684\u7537\u7ae5\uff0c\u6bcf\u4e00\u4f4d\u670950%\u7684\u5f97\u75c5\u7387\uff0c\u800c\u6bcf\u4f4d\u5973\u7ae5\u5247\u670950%\u7684\u6a5f\u6703\u6210\u70ba\u5e36\u56e0\u8005\u3002<br \/>\u6709\u6642\u808c\u8089\u840e\u7e2e\u75c7\u4e26\u975e\u907a\u50b3\u81ea\u7236\u6bcd\uff0c\u800c\u662f\u8d77\u56e0\u65bc\u75c5\u7ae5\u672c\u8eab\u7684\u57fa\u56e0\u51fa\u932f\uff0c\u6b64\u5373\u6240\u8b02\u7684\u300c\u81ea\u767c\u7a81\u8b8a\u300d\u3002<br \/>\u9ad8\u9054\u4e09\u5206\u4e4b\u4e00\u7684\u675c\u986f\u578b\u8207\u984f\u80a9\u80b1\u578b\u808c\u8089\u840e\u7e2e\u75c7\u662f\u81ea\u767c\u7a81\u8b8a\u624d\u81f4\u75c5\u7684\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q7.\u808c\u840e\u7e2e\u75c7\u4e00\u5b9a\u662f\u907a\u50b3\u7684\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u4e0d\u662f\u3002\u8fd1\u4e4e\u4e09\u5206\u4e4b\u4e00\u7684\u675c\u986f\u578b\u75c5\u4f8b\uff0c\u5176\u57fa\u56e0\u7684\u7f3a\u640d\u4e26\u975e\u4f86\u81ea\u907a\u50b3\u800c\u662f\u75c5\u7ae5\u672c\u8eab\u7684\u554f\u984c\uff0c\u6b64\u5373\u6240\u8b02\u7684\u300c\u81ea\u767c\u300d\u6216\u300c\u5076\u767c\u300d\u7a81\u8b8a\u3002\u767e\u5206\u4e4b10\u5230\u767e\u5206\u4e4b30\u7684\u984f\u80a9\u80b1\u578b\u60a3\u8005\u662f\u81ea\u767c\u6027\u7684\u7a81\u8b8a\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q8.\u5bb6\u65cf\u6c92\u6709\u675c\u986f\u578b\u75c5\u53f2\u7684\u6bcd\u89aa\uff0c\u751f\u4e0b\u675c\u986f\u578b\u75c5\u7ae5\u7684\u6a5f\u6703\u662f\u591a\u5c11\uff1f\u00a0<\/p><p class=\"auto-style2\">A:\u5927\u9ad4\u4e0a\u4f86\u8aaa\uff0c\u4e00\u822c\u7537\u7ae5\u6bcf3,200\u4eba\u7576\u4e2d\u6709\u4e00\u4eba\u6703\u5f97DMD\uff1b\u800c\u975e\u907a\u50b3\u4e4b\u300c\u5076\u767c\u7a81\u8b8a\u75c5\u4f8b\u300d\uff0c\u767c\u751f\u7387\u5927\u7d04\u6bcf12,000\u4eba\u6709\u4e00\u4eba\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q9.\u53ef\u5426\u7531DMD\u7537\u7ae5\u7684\u6bcd\u89aa\u6216\u59ca\u59b9\u8eab\u4e0a\u6aa2\u67e5\u51fa\u6709\u5e36\u56e0\u7684\u60c5\u5f62\uff1f\u00a0<\/p><p class=\"auto-style2\">A:\u662f\u7684\u3002\u53ef\u4ee5\u9a57DNA\u3002\u5982\u679c\u78ba\u77e5\u5bb6\u4e2dDMD\u60a3\u8005\u6709\u4f55\u7a2eDNA\u7a81\u8b8a\u5c31\u6700\u5bb9\u6613\u6aa2\u67e5\u51fa\u4f86\u3002\u6709\u6642\uff0c\u8840\u6db2\u4e2d\u808c\u8089\u9175\u7d20\u503c(CK)\u53ef\u4ee5\u63a8\u6e2c\u662f\u5426\u5e36\u56e0\u3002CK\u901a\u5e38\u5b58\u5728\u65bc\u6b63\u5e38\u7684\u808c\u8089\u4e2d\uff0c\u4e00\u65e6\u808c\u8089\u751f\u75c5\u6216\u53d7\u640d\uff08\u4f8b\u5982\uff0c\u675c\u986f\u578b\u548c\u8c9d\u514b\u578b\u808c\u840e\u7e2e\u75c7\uff09\u5927\u91cf\u7684CK\u6703\u6d41\u9032\u8840\u6db2\uff0c\u800c\u88ab\u6e2c\u51fa\u3002<br 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class=\"auto-style1\">Q21.DMD\u808c\u840e\u75c7\u53ef\u4ee5\u5728\u521d\u751f\u6642\u88ab\u8a3a\u65b7\u51fa\u4f86\u55ce\uff1f\u00a0<\/p><p class=\"auto-style2\">A:\u81f3\u5c11\u8981\u7b49\u5230\u5c0f\u5b69\u5e7e\u6b72\u4ee5\u5f8c\uff0c\u808c\u840e\u7e2e\u75c7\u81e8\u5e8a\u4e0a\u7684\u5fb5\u5146\uff08\u7121\u529b\u53ca\u840e\u7e2e\uff09\u624d\u6703\u660e\u986f\u3002\u4e0d\u904e\uff0c\u521d\u751f\u6642\uff0c\u8840\u6db2\u4e2d\u904e\u9ad8\u7684\u808c\u8089\u9175\u7d20\u662f\u53ef\u4ee5\u6aa2\u9a57\u51fa\u4f86\u7684\uff0c\u9019\u9060\u6bd4\u81e8\u5e8a\u4e0a\u660e\u986f\u7121\u529b\u7684\u6642\u9593\u65e9\u8a31\u591a\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q22.\u5c0f\u5973\u751f\u5982\u4f55\u5f97\u5230DMD\u7684?<\/p><p class=\"auto-style2\">A:\u5927\u7d04\u6bcf3,500\u540d\u7537\u65b0\u751f\u5152\u4e2d\u67091\u540d\u6703\u7f79\u60a3\u675c\u986f\u578b\u808c\u840e\u75c7\uff0c\u6bcf50,000,000\u540d\u5973\u65b0\u751f\u5152\u4e2d\u67091\u540d\u6703\u7f79\u60a3\u675c\u986f\u578b\u808c\u840e\u75c7\u3002 \u675c\u986f\u578b\u808c\u840e\u75c7\u5728\u5973\u6027\u4e2d\u6975\u5c11\u898b\uff0c\u56e0\u70ba\u5979\u5011\u6709\u5169\u689dX\u67d3\u8272\u9ad4\uff0c\u901a\u5e38\u7b2c\u4e8c\u689d\u67d3\u8272\u9ad4\u4e0a\u672a\u53d7\u5f71\u97ff\u7684\u808c\u7e2e\u86cb\u767d\u57fa\u56e0\u53ef\u4ee5\u88dc\u511f\u6709\u7f3a\u9677\u7684X\u67d3\u8272\u9ad4\u3002<br \/>(\u6ce8\u89e3\uff1a\u7537\u6027\u6709X\u548cY\u67d3\u8272\u9ad4\uff0c\u6240\u4ee5\u4ed6\u5011\u6c92\u6709\u7b2c\u4e8c\u500bX\u67d3\u8272\u9ad4\u4f86\u88dc\u511f\u3002)<br \/>\u5982\u679c\u7531\u65bc\u67d0\u7a2e\u539f\u56e0\u4f7f\u5f97\u651c\u5e36\u5065\u5eb7\u808c\u7e2e\u86cb\u767d\u57fa\u56e0\u7684X\u67d3\u8272\u9ad4\u88ab\u95dc\u9589\u7684\u8a71\uff0c\u5973\u751f\u53ef\u80fd\u6703\u6709\u675c\u986f\u578b\u808c\u840e\u75c7\u3002\u6b63\u5e38\u7684X\u67d3\u8272\u9ad4\u88ab\u95dc\u9589\u4fbf\u7121\u6cd5\u5728\u808c\u8089\u4e2d\u88fd\u9020\u51fa\u808c\u7e2e\u86cb\u767d\u3002\u9019\u88ab\u7a31\u70ba\u300cX\u9023\u9396\u920d\u5316\u300d\u3002\u6839\u64da\u9019\u7a2eX\u9023\u9396\u920d\u5316\u7684\u7a0b\u5ea6\uff0c\u5979\u5011\u7684\u75c5\u7a0b\u53ef\u80fd\u8207\u675c\u986f\u578b\u808c\u840e\u75c7\u7684\u7537\u5b69\u76f8\u540c\uff0c\u4f46\u5979\u5011\u7684\u75c5\u60c5\u901a\u5e38\u8f03\u6eab\u548c\u3002<br \/>\u53e6\u5916\uff0c\u4e00\u500b\u675c\u986f\u578b\u808c\u840e\u75c7\u7684\u5e74\u8f15\u4eba\u5982\u679c\u4f7f\u4e00\u500b\u675c\u986f\u578b\u808c\u840e\u75c7\u5e36\u56e0\u8005\u7684\u5973\u5b69\u61f7\u5b55\uff0c\u6709\u53ef\u80fd\u751f\u51fa\u675c\u986f\u578b\u808c\u840e\u75c7\u5973\u5152\u3002\u9019\u662f\u975e\u5e38\u7f55\u898b\u7684\uff0c\u675c\u986f\u578b\u808c\u840e\u75c7\u75c5\u4eba\u901a\u5e38\u5728\u53ef\u4ee5\u751f\u5b69\u5b50\u7684\u5e74\u9f61\u6642\uff0c\u5065\u5eb7\u72c0\u6cc1\u5df2\u7d93\u4e0d\u4f73\uff0c\u800c\u4e14\u4ed6\u5011\u7684\u4f34\u4fb6\u4e5f\u4e0d\u592a\u53ef\u80fd\u662f\u5e36\u56e0\u8005\u3002<br \/>\u675c\u986f\u578b\u808c\u840e\u75c7\u7684\u5973\u6027\u5e36\u56e0\u8005\u53ef\u80fd\u5177\u6709\u8f15\u5fae\u7684\u75c7\u72c0\uff0c\u9032\u5c55\u975e\u5e38\u7de9\u6162\uff0c\u9019\u4e9b\u5a66\u5973\u88ab\u7a31\u70ba\u986f\u73fe\u5e36\u56e0\u8005\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q23.\u808c\u8089\u840e\u7e2e\u75c7\u5f15\u8d77\u75bc\u75db\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u75bc\u75db\u901a\u5e38\u4e0d\u662f\u808c\u840e\u75c7\u7684\u4e3b\u8981\u75c7\u72c0\uff0c\u4f46\u6709\u6642\u808c\u8089\u7121\u529b\u53ef\u80fd\u4f7f\u95dc\u7bc0\u904e\u5ea6\u75b2\u52de\u6216\u59ff\u52e2\u4e0d\u6b63\u78ba\uff0c\u5f9e\u800c\u5c0e\u81f4\u75bc\u75db\u3002\u8abf\u67e5\u986f\u793a\uff0c\u5c0d\u65bcFSHD\u60a3\u8005\u4f86\u8aaa\uff0c\u75bc\u75db\u5c24\u5176\u662f\u500b\u554f\u984c\uff0c\u4f46\u5c0d\u9019\u7a2e\u75bc\u75db\u7684\u539f\u56e0\u548c\u6cbb\u7642\u65b9\u6cd5\u76ee\u524d\u4e86\u89e3\u751a\u5c11\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q24.\u54ea\u4e9b\u5fb5\u5146\u53ef\u4ee5\u986f\u793a\u808c\u840e\u7e2e\u75c7\u60a3\u8005\u9700\u8981\u4f7f\u7528\u547c\u5438\u5668\u5e6b\u52a9\u547c\u5438\u7684\u6642\u5019\u5230\u4e86\uff1f<\/p><p class=\"auto-style2\">A:\u547c\u5438\u808c\u8089\u5f31\u5316\u7684\u8de1\u50cf\u662f\u982d\u75db\uff0c\u591c\u9593\u7761\u7720\u56f0\u96e3\uff0c\u767d\u5929\u904e\u5ea6\u55dc\u7761\uff0c\u6ce8\u610f\u529b\u4e0d\u96c6\u4e2d\u548c\u80f8\u90e8\u611f\u67d3\u3002\u53ef\u651c \u5f0f\u4e14\u6709\u6548\u7684\u547c\u5438\u5668\u53ef\u4ee5\u5927\u5927\u63d0\u9ad8\u751f\u6d3b\u54c1\u8cea\u3002\u901a\u5e38\u53ea\u5728\u591c\u9593\u9700\u8981\u547c\u5438\u5668\u3002<br \/>\u65e9\u671f\u767c\u73fe\u548c\u6cbb\u7642\u547c\u5438\u554f\u984c\u662f\u6709\u5e6b\u52a9\u7684\uff1b\u56e0\u6b64\uff0c\u4e00\u65e6\u958b\u59cb\u6709\u660e\u986f\u7684\u808c\u8089\u7121\u529b\uff0c\u808c\u840e\u7e2e\u60a3\u8005\u5c31\u8a72\u5b9a\u671f\u505a\u300c\u80ba\u529f\u80fd\u6e2c\u8a66\u300d\u3002\u9019\u90fd\u662f\u4e9b\u7c21\u55ae\u7684\u6e2c\u8a66\uff0c\u53ef\u4ee5\u76e3\u6e2c\u547c\u5438\u808c\u7684\u5f37\u5ea6\u548c\u8840\u6db2\u4e2d\u7684\u6c27\u6c23\u542b\u91cf\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q25.\u808c\u840e\u7e2e\u75c7\u5f15\u767c\u95dc\u7bc0\u708e\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u4e0d\uff0c\u96d6\u7136\u808c\u8089\u75c5\u60a3\u8005\u4e5f\u53ef\u80fd\u6709\u95dc\u7bc0\u708e\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q26.\u6709\u4ec0\u9ebc\u6cbb\u7642\u808c\u840e\u7e2e\u75c7\u7684\u65b9\u6cd5\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u76ee\u524d\u5c1a\u672a\u767c\u73fe\u4efb\u4f55\u6cbb\u7642\u65b9\u6cd5\u53ef\u4ee5\u77ef\u6b63\u5176\u6839\u672c\u7684\u539f\u56e0\u6216\u505c\u6b62\u75be\u75c5\u7684\u767c\u5c55\uff0c\u4f46\u5e7e\u7a2e\u5f88\u6709\u5e0c\u671b\u7684\u7642\u6cd5\u6b63\u5728\u81e8\u5e8a\u8a66\u9a57\u968e\u6bb5\u3002\u76ae\u8cea\u985e\u56fa\u9187\u85e5\u7269\u6cbb\u7642\u53ef\u4ee5\u5c07DMD\u7684\u4e00\u4e9b\u75c7\u72c0\u5ef6\u9072\u5e7e\u5e74\u767c\u4f5c\u3002\u6709\u652f\u6301\u6027\u548c\u75c7\u72c0\u6027\u7684\u8f14\u52a9\u8cc7\u6e90\u53ef\u4f9b\u4f7f\u7528\uff0c\u9084\u6709\u7531\u91ab\u7642\u5c08\u696d\u5718\u968a\u7684\u7167\u8b77\u53ef\u4ee5\u63d0\u9ad8\u8212\u9069\u5ea6\uff0c\u6d3b\u52d5\u80fd\u529b\uff0c\u751a\u81f3\u9810\u671f\u58fd\u547d\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q27.\u808c\u840e\u75c7\u53ef\u4ee5\u7531X\u5149\u8a3a\u65b7\u51fa\u4f86\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u4e0d\uff0c\u4f46\u662f\u6709\u4e9b\u4f34\u96a8\u8457\u75be\u75c5\u51fa\u73fe\u7684\u8b8a\u5316\uff08\u4f8b\u5982\uff1a\u9aa8\u9abc\u758f\u9b06\u4ee5\u53ca\u5c0f\u817f\u8edf\u7d44\u7e54\u589e\u52a0\u7684\u6697\u5f71\uff09\u53ef\u4ee5\u7528X\u5149\u8a3a\u65b7\u51fa\u4f86\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q28.\u5fc3\u81df\u6703\u53d7\u5230\u808c\u840e\u75c7\u4fb5\u72af\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u8a31\u591a\u985e\u578b\u808c\u8089\u840e\u7e2e\u75c7\u53ef\u80fd\u6703\u6709\u5fc3\u81df\u808c\u8089\u548c\u5fc3\u81df\u75be\u75c5\u7684\u4f75\u767c\u75c7\u3002\u5fc3\u81df\u808c\u8089\u548c\u5fc3\u81df\u75be\u75c5\u5728DMD\u4e2d\u662f\u5e38\u898b\u7684\uff0c\u4e26\u4e14\u53ef\u4ee5\u5728\u80a2\u5e36\u578b\u808c\u840e\u7e2e\u75c7\u4e2d\u770b\u5230\u4e26\u4e14\u4e5f\u7d93\u5e38\u767c\u751f\u5728\u808c\u5f37\u76f4\u6027\u808c\u840e\u7e2e\u75c7\u4e2d\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q29.\u808c\u840e\u7e2e\u75c7\u75c5\u4eba\u6709\u667a\u80fd\u9072\u920d\u7684\u73fe\u8c61\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u808c\u840e\u7e2e\u75c7\u75c5\u4eba\u667a\u80fd\u9072\u920d\u7684\u6a5f\u7387\u4e0d\u6703\u6bd4\u4e00\u822c\u4eba\u9ad8\u3002\u7136\u800c\uff0c\u5c11\u6578DMD\u7537\u5b69\u53ef\u80fd\u6703\u51fa\u73fe\u4e00\u4e9b\u5b78\u7fd2\u548c\u884c\u70ba\u56f0\u96e3\u3002\u901a\u904e\u9069\u7576\u7684\u5e6b\u52a9\u548c\u652f\u6301\uff0c\u9019\u4e9b\u56f0\u96e3\u662f\u53ef\u4ee5\u514b\u670d\u7684\u3002\u4e00\u4e9b\u56b4\u91cd\u7684\u5f37\u76f4\u6027\u808c\u840e\u75c7\u75c5\u4f8b\u53ef\u80fd\u6d89\u53ca\u4e00\u5b9a\u7a0b\u5ea6\u7684\u667a\u529b\u969c\u7919\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q30.\u808c\u840e\u75c7\u662f\u4ec0\u9ebc\u539f\u56e0\u9020\u6210\u7578\u5f62\uff1f<\/p><p class=\"auto-style2\">A:\u808c\u8089\u7121\u529b\u6703\u5c0e\u81f4\u808c\u8089\u7e2e\u77ed\uff08\u6523\u7e2e\uff09\u548c\u5931\u8861\uff0c\u7279\u5225\u6703\u9020\u6210\u8173\u90e8\u7684\u7578\u5f62\u3002\u9019\u7a2e\u7578\u5f62\u53ef\u4ee5\u901a\u904e\u4f7f\u7528\u7279\u6b8a\u7684\u978b\u5b50\uff0c\u624b\u8853\u4ee5\u53ca\u7269\u7406\u6cbb\u7642\u5e2b\u7684\u652f\u6301\u4f86\u9810\u9632\u6216\u5ef6\u9072\u3002\u810a\u690e\u5468\u570d\u808c\u8089\u7684\u865b\u5f31\u4e5f\u53ef\u80fd\u5c0e\u81f4\u810a\u690e\u5074\u5f4e\uff08\u810a\u690e\u5f4e\u66f2\uff09\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q31.\u60a3\u6709\u795e\u7d93\u808c\u8089\u75be\u75c5\u7684\u4eba\u6bd4\u8f03\u5bb9\u6613\u75b2\u52de\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u662f\u7684\uff0c\u75b2\u52de\u901a\u5e38\u8207\u808c\u8089\u840e\u7e2e\u75c7\u548c\u5176\u4ed6\u76f8\u95dc\u75c5\u75c7\u6709\u95dc\u3002\u539f\u56e0\u5c1a\u672a\u5b8c\u5168\u6e05\u695a\uff0c\u4f46\u7d93\u5e38\u4f7f\u7528\u8f03\u5f37\u7684\u808c\u8089\u4f86\u66ff\u4ee3\u8f03\u5f31\u7684\u808c\u8089\uff0c\u6703\u8fc5\u901f\u7522\u751f\u75b2\u52de\u3002\u6709\u4e9b\u985e\u578b\u7684\u808c\u8089\u840e\u7e2e\u75c7\uff0c\u5fc3\u81df\u6703\u865b\u5f31\uff0c\u9019\u4e5f\u6703\u52a9\u9577\u75b2\u52de\u3002\u5f37\u76f4\u6027\u808c\u8089\u840e\u7e2e\u75c7\u60a3\u8005\u7684\u8166\u90e8\u7d93\u5e38\u53d7\u5230\u5f71\u97ff\uff0c\u6703\u5c0e\u81f4\u75b2\u52de\u4ee5\u53ca\u767d\u5929\u55dc\u7761\u3002\u91cd\u75c7\u808c\u7121\u529b\u7684\u60a3\u8005\u7279\u5225\u5bb9\u6613\u53d7\u5230\u808c\u8089\u75b2\u52de\u7684\u5f71\u97ff\uff0c\u9019\u662f\u7531\u65bc\u5f9e\u795e\u7d93\u50b3\u905e\u5230\u808c\u8089\u7684\u4fe1\u865f\u53d7\u5230\u75c5\u60c5\u7684\u4fb5\u8972\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q32.\u808c\u8089\u840e\u7e2e\u75c7\u662f\u9032\u884c\u6027\u7684\u75be\u75c5\uff0c\u9084\u662f\u5728\u67d0\u500b\u968e\u6bb5\u6703\u505c\u6b62\u4e00\u6bb5\u6642\u9593\uff0c\u518d\u6b21\u958b\u59cb\uff1f<\/p><p class=\"auto-style2\">A:\u808c\u8089\u840e\u7e2e\u75c7\u7684\u9000\u5316\u904e\u7a0b\u662f\u6301\u7e8c\u6027\u7684\uff0c\u4f46\u662f\u6b63\u5e38\u751f\u9577\u767c\u80b2\u7684\u904e\u7a0b\u6709\u6642\u5019\u4f3c\u4e4e\u8d85\u904e\u4e86\u75be\u75c5\u9000\u5316\u7684\u901f\u5ea6\uff0c\u56e0\u6b64\uff0c\u60a3\u8005\u770b\u8d77\u4f86\u597d\u50cf\u6709\u529b\u6c23\u4e86\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q33.\u808c\u8089\u840e\u7e2e\u75c7\u6703\u5f71\u97ff\u807d\u529b\uff0c\u8996\u529b\u9084\u662f\u8a00\u8a9e\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u4e00\u822c\u800c\u8a00\uff0c\u808c\u8089\u840e\u7e2e\u75c7\u4e0d\u6703\u640d\u5bb3\u8996\u529b\u3002\u7136\u800c\uff0c\u6709\u6642\u5f37\u76f4\u6027\u808c\u8089\u840e\u7e2e\u75c7\u6703\u51fa\u73fe\u767d\u5167\u969c\uff0c\u984f\u80a9\u80b1\u578b\u808c\u8089\u840e\u7e2e\u75c7\uff08FSHD\uff09\u5076\u723e\u6703\u9020\u6210\u773c\u775b\u8996\u7db2\u819c\u7684\u640d\u50b7\uff0c\u800c\u5b30\u5e7c\u5152\u767c\u75c5\u7684FSHD\u82e5\u6709\u8996\u7db2\u819c\u640d\u50b7\u7684\u72c0\u6cc1\uff0c\u53ef\u80fd\u6703\u6f14\u8b8a\u6210\u6240\u8b02\u7684\u300c\u5927\u8863\u75c5\u300d\uff0c\u5982\u679c\u4e0d\u53ca\u65e9\u6cbb\u7642\u53ef\u80fd\u6703\u5c0e\u81f4\u8996\u529b\u55aa\u5931\u3002\u9084\u6709\u4e00\u4e9b\u7f55\u898b\u7684\u75c5\u4f8b\u6703\u5371\u5bb3\u5230\u79fb\u52d5\u773c\u775b\u7684\u808c\u8089\uff0c\u4f8b\u5982\u773c\u54bd\u578b\u808c\u8089\u840e\u7e2e\u75c7\uff08OPMD\uff09\u3002\u807d\u89ba\u901a\u5e38\u4e0d\u53d7\u5f71\u97ff\uff0c\u9664\u4e86\u5b30\u5e7c\u5152\u767c\u75c5\u7684\u984f\u80a9\u80b1\u578b\u808c\u8089\u840e\u7e2e\u75c7\uff08FSHD\uff09\u3002\u56e0\u70ba\u63a7\u5236\u8a00\u8a9e\u7684\u9762\u90e8\u808c\u8089\u7121\u529b\uff0cFSHD\u60a3\u8005\u7684\u8aaa\u8a71\u80fd\u529b\u53ef\u80fd\u53d7\u640d\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q34.\u808c\u840e\u7e2e\u75c7\u624b\u90e8\u7684\u808c\u8089\u6703\u53d7\u5f71\u97ff\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u9019\u53d6\u6c7a\u65bc\u808c\u8089\u840e\u7e2e\u75c7\u7684\u985e\u578b\u3002\u9060\u7aef\u808c\u75c5\u548c\u5f37\u76f4\u6027\u808c\u8089\u840e\u7e2e\u75c7\u9019\u4e9b\u985e\u578b\u78ba\u5be6\u6703\u5f71\u97ff\u624b\u90e8\u808c\u8089\u3002\u5176\u4ed6\u985e\u578b\u5982\u675c\u986f\u578b\u808c\u8089\u840e\u7e2e\u75c7\uff0c\u817f\u90e8\u548c\u9aa8\u76c6\u7684\u5927\u808c\u8089\u9996\u5148\u53d7\u5230\u4fb5\u72af\uff0c\u624b\u90e8\u808c\u8089\u53d7\u5230\u7684\u4fb5\u72af\u4e0d\u90a3\u9ebc\u56b4\u91cd\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q35.\u65e2\u7136\u6c92\u6709\u65b9\u6cd5\u6cbb\u7642\u808c\u840e\u75c7\uff0c\u70ba\u4ec0\u9ebc\u65e9\u671f\u8a3a\u65b7\u5f88\u91cd\u8981\uff1f<\/p><p class=\"auto-style2\">A:\u4e3b\u8981\u539f\u56e0\u6709\u4e09\u500b\u3002\u9996\u5148\uff0c\u505a\u597d\u8207\u795e\u7d93\u808c\u8089\u5c08\u5bb6\u7684\u806f\u7e6b\uff0c\u53ef\u4ee5\u96a8\u6642\u9032\u884c\u6cbb\u7642\u3002\u5176\u6b21\uff0c\u91ab\u7642\u3001\u5fc3\u7406\u548c\u793e\u6703\u65b9\u9762\u7684\u9700\u6c42\u53ef\u4ee5\u9810\u5148\u8003\u616e\u548c\u8a08\u5283\uff0c\u7576\u9700\u6c42\u6d6e\u73fe\u6642\uff0c\u53ef\u4ee5\u8fc5\u901f\u8655\u7406\u3002\u65e9\u671f\u4ecb\u5165\u662f\u6210\u529f\u6cbb\u7642\u75c7\u72c0\u548c\u4f75\u767c\u75c7\u7684\u95dc\u9375\u3002\u7b2c\u4e09\uff0c\u8b93\u7236\u6bcd\u548c\u5973\u6027\u89aa\u621a\u53ef\u4ee5\u63a5\u53d7\u6709\u95dc\u672a\u4f86\u61f7\u5b55\u98a8\u96aa\u7684\u907a\u50b3\u8aee\u8a62\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q36.\u5728\u808c\u840e\u7e2e\u75c7\u7684\u8a3a\u65b7\u4e2d\uff0c\u8840\u6db2\u808c\u8089\u9175\u7d20\u6709\u4ec0\u9ebc\u6c7a\u5b9a\u4f5c\u7528\uff1f<\/p><p class=\"auto-style2\">A:\u808c\u8089\u9175\u7d20\u5347\u9ad8 (\u5982CPK\uff0cadolase\uff0cLDH) \u8868\u793a\u808c\u8089\u7d30\u80de\u5df2\u53d7\u5230\u7834\u58de\u3002\u4e0d\u540c\u7684\u808c\u8089\u75be\u75c5\uff0c\u5305\u62ec\u808c\u840e\u7e2e\u75c7\uff0c\u90fd\u53ef\u4ee5\u767c\u73fe\u7368\u7279\u7684\u5347\u9ad8\u73fe\u8c61\u3002\u4f46\u662f\u901a\u5e38\u9084\u662f\u9700\u8981\u9032\u884c\u907a\u50b3\u9451\u5b9a\u4f86\u78ba\u8a8d\u8a3a\u65b7\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q37.\u4ec0\u9ebc\u662f\u808c\u96fb\u5716\uff08EMG\uff09\uff1f\u00a0<\/p><p class=\"auto-style2\">A:\u808c\u96fb\u5716\u662f\u4e00\u7a2e\u6aa2\u67e5\uff0c\u5b83\u7528\u5f88\u7d30\u7684\u96fb\u6975\u91dd\u63d2\u5165\u6311\u9078\u597d\u7684\u808c\u8089\u88e1\uff0c\u8a18\u9304\u4e26\u89e3\u6790\u808c\u8089\u5728\u4f11\u606f\u53ca\u7e2e\u6536\u6642\u6240\u7522\u751f\u7684\u96fb\u6c23\u6d3b\u52d5\u6a21\u5f0f\u3002\u7279\u6709\u7684\u96fb\u6c23\u6d3b\u52d5\u6a21\u5f0f\u53ef\u4ee5\u8a3a\u65b7\u51fa\u4e0d\u540c\u7684\u808c\u8089\u6216\u795e\u7d93\u75be\u75c5\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q38.\u4ec0\u9ebc\u662f\u808c\u8089\u5207\u7247\uff1f<\/p><p class=\"auto-style2\">A:\u808c\u8089\u5207\u7247\u662f\u4e00\u500b\u5c0f\u624b\u8853\uff0c\u5728\u5168\u8eab\u6216\u5c40\u90e8\u9ebb\u9189\u4e4b\u4e0b\uff0c\u53d6\u4e0b\u4e00\u5c0f\u584a\u808c\u8089\uff0c\u5207\u5f97\u5f88\u8584\uff0c\u7528\u4e0d\u540c\u7684\u8457\u8272\u5291\u8655\u7406\uff0c\u5728\u986f\u5fae\u93e1\u4e0b\u6aa2\u67e5\u5404\u7a2e\u808c\u8089\u6216\u795e\u7d93\u75be\u75c5\u7279\u6709\u7684\u8b8a\u5316\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q39.\u808c\u840e\u7e2e\u75c5\u4eba\u6709\u6642\u5019\u6703\u89ba\u5f97\u6bd4\u8f03\u6709\u529b\u6c23\u800c\u6709\u6642\u5019\u53c8\u89ba\u5f97\u6bd4\u8f03\u7121\u529b\u55ce\uff1f\u00a0<\/p><p class=\"auto-style2\">A:\u6703\u7684\u3002\u50cf\u4e00\u822c\u4eba\u4e00\u6a23\uff0c\u808c\u840e\u7e2e\u75c5\u4eba\u4e5f\u6709\u6642\u597d\u6642\u58de\u7684\u611f\u89ba\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q40.\u808c\u840e\u7e2e\u75c7\u4e3b\u8981\u662f\u5c6c\u65bc\u808c\u8089\u75be\u75c5\u55ce\uff1f\u6216\u8005\u795e\u7d93\u4e5f\u53d7\u5230\u4fb5\u72af\uff1f<\/p><p class=\"auto-style2\">A:\u808c\u8089\u840e\u7e2e\u75c7\u4e3b\u8981\u662f\u808c\u8089\u75be\u75c5\uff0c\u4f46\u662f\u4e00\u4e9b\u5176\u4ed6\u76f8\u95dc\u7684\u795e\u7d93\u808c\u8089\u75be\u75c5\u5982\u907a\u50b3\u6027\u904b\u52d5\u611f\u89ba\u795e\u7d93\u75c5\u8b8a(Charcot-Marie-Tooth disease)\u6703\u5f71\u97ff\u5468\u570d\u795e\u7d93\uff1b\u5176\u4ed6\u5982\u808c\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\uff08ALS\uff09\u548c\u810a\u9ad3\u6027\u808c\u840e\u7e2e\uff08SMA\uff09\u6703\u5f71\u97ff\u904b\u52d5\u795e\u7d93\u5143\u3002\u91cd\u75c7\u808c\u7121\u529b\u5247\u6703\u5f71\u97ff\u795e\u7d93\u8207\u808c\u8089\u4ea4\u754c\u8655\u7684\u7d50\u69cb\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q41.\u8178\u5b50\u6216\u8180\u80f1\u6703\u53d7\u5230\u808c\u840e\u75c7\u4fb5\u72af\u55ce\uff1f<\/p><p 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class=\"auto-style2\">A:\u5982\u679c\u5bb6\u5ead\u88e1\u6e9d\u901a\u7684\u7ba1\u9053\u4fdd\u6301\u958b\u653e\u7684\u8a71\uff0c\u8a31\u591a\u6f5b\u5728\u7684\u554f\u984c\u662f\u53ef\u4ee5\u907f\u514d\u7684\u3002\u808c\u840e\u75c7\u75c5\u7ae5\u7684\u5144\u5f1f\u59ca\u59b9\u61c9\u8a72\u5728\u4ed6\u5011\u6709\u80fd\u529b\u77ad\u89e3\u7684\u6642\u5019\uff0c\u53ca\u65e9\u544a\u77e5\u4ed6\u5011\u75c5\u7ae5\u7684\u75c5\u60c5\u4ee5\u53ca\u53ef\u80fd\u7684\u5f71\u97ff\u3002\u505a\u7236\u6bcd\u7684\u61c9\u8a72\u77ad\u89e3\uff0c\u4ed6\u5011\u6b63\u5e38\u7684\u5b69\u5b50\u4e5f\u6709\u751f\u7406\u53ca\u60c5\u7dd2\u4e0a\u7684\u9700\u6c42\uff0c\u5fc5\u9808\u7b26\u5408\u4ed6\u5011\u7684\u9700\u6c42\uff0c\u4e26\u4e14\u907f\u514d\u628a\u6240\u6709\u7684\u6ce8\u610f\u529b\u96c6\u4e2d\u5728\u75c5\u7ae5\u8eab\u4e0a\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q69.\u808c\u840e\u75c7\u7684\u75c5\u4eba\u53ef\u4ee5\u53c3\u8207\u9ad4\u80b2\u6d3b\u52d5\u55ce\uff1f\u00a0<\/p><p class=\"auto-style2\">A:\u53ea\u8981\u9ad4\u529b\u5141\u8a31\u5c31\u53ef\u4ee5\u3002\u865b\u5f31\u7121\u529b\u4f7f\u5f97\u75c5\u4eba\u7121\u6cd5\u53c3\u8207\u6bd4\u8f03\u6fc0\u70c8\u7684\u9ad4\u80b2\u6d3b\u52d5\uff0c\u4f46\u662f\u7531\u65bc\u6c34\u7684\u6d6e\u529b\u53ef\u4ee5\u652f\u6490\u8eab\u9ad4\uff0c\u5927\u90e8\u4efd\u7684\u75c5\u4eba\u9084\u662f\u80fd\u4eab\u53d7\u8f03\u4e0d\u8cbb\u529b\u7684\u6c34\u4e2d\u6d3b\u52d5\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q70.\u5c0d\u65bc\u808c\u840e\u75c7\u75c5\u7ae5\uff0c\u4ec0\u9ebc\u578b\u614b\u7684\u5a1b\u6a02\u6d3b\u52d5\u662f\u53ef\u4ee5\u505a\u7684\uff1f\u00a0<\/p><p class=\"auto-style2\">A:\u8a31\u591a\u6d3b\u52d5\u63d0\u4f9b\u9078\u64c7\uff0c\u5305\u62ec\u8f2a\u6905\u904b\u52d5\uff0c\u5982\u7db2\u7403\uff0c\u8db3\u7403\u548c\u7c43\u7403\u3002Boccia\u662f\u4e00\u7a2e\u5c08\u70ba\u8eab\u969c\u8005\u8a2d\u8a08\u4e14\u53ef\u4ee5\u505a\u70ba\u793e\u4ea4\u6216\u7af6\u722d\u6027\u8cea\u7684\u9ad4\u80b2\u6d3b\u52d5\u3002\u6709\u4e9b\u5b69\u5b50\u559c\u6b61\u6e38\u6cf3\uff0c\u9a0e\u99ac\u6216\u5ba4\u5167\u6500\u5ca9\u3002\u300c\u8eab\u969c\u8005\u904b\u52d5\u548c\u5a1b\u6a02\u300d\u7b49\u7d44\u7e54\u53ef\u4ee5\u5e6b\u52a9\u60a8\u627e\u5230\u5408\u9069\u7684\u6d3b\u52d5\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q71.\u808c\u840e\u75c7\u75c5\u7ae5\u61c9\u8a72\u4e0a\u6b63\u898f\u7684\u5b78\u6821\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u662f\u7684\uff0c\u5927\u591a\u6578\u7684\u75c5\u7ae5\u90fd\u4e0a\u6b63\u898f\u7684\u5b78\u6821\u3002\u4f46\u662f\uff0c\u4f60\u61c9\u8a72\u5c0d\u53ef\u4f9b\u9078\u64c7\u7684\u5b78\u6821\u9032\u884c\u8a55\u4f30\uff0c\u6c7a\u5b9a\u6700\u9069\u5408\u4f60\u5b69\u5b50\u7684\u5b78\u6821\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q72.\u808c\u840e\u75c7\u75c5\u4eba\u53ef\u4ee5\u5f9e\u653f\u5e9c\u65b9\u9762\u5f97\u5230\u4ec0\u9ebc\u793e\u6703\u5b89\u5168\u4fdd\u969c\u548c\u5176\u7684\u4ed6\u798f\u5229\uff1f\u00a0<\/p><p class=\"auto-style2\">A:\u806f\u90a6\u548c\u5dde\u653f\u5e9c\u63d0\u4f9b\u8eab\u969c\u4eba\u58eb\u6216\u4e3b\u8981\u7167\u8b77\u8005\u4e00\u4e9b\u670d\u52d9\u6216\u8ca1\u653f\u63f4\u52a9\u7684\u798f\u5229\u3002\u5728\u67d0\u4e9b\u60c5\u6cc1\u4e0b\uff0c\u9700\u8981\u7b26\u5408\u8cc7\u683c\u6a19\u6e96\uff0c\u60a8\u6709\u53ef\u80fd\u4e0d\u662f\u6bcf\u9805\u670d\u52d9\u90fd\u7b26\u5408\u8cc7\u683c\u3002 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class=\"auto-style1\">Q74.\u60a3\u6709\u808c\u8089\u840e\u7e2e\u75c7\u7684\u5152\u7ae5\u9577\u6642\u9593\u5750\u5728\u8f2a\u6905\u4e0a\u6703\u7522\u751f\u58d3\u7621\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u4f7f\u7528\u8f2a\u6905\u7684\u808c\u8089\u840e\u7e2e\u75c7\u60a3\u8005\uff0c\u6bd4\u90a3\u4e9b\u5931\u53bb\u8eab\u9ad4\u611f\u89ba\u7684\u810a\u690e\u640d\u50b7\u60a3\u8005\u8f03\u5c11\u51fa\u73fe\u58d3\u7621\u554f\u984c\u3002\u9019\u662f\u56e0\u70ba\u4ed6\u5011\u80fd\u5920\u611f\u53d7\u5230\u4e0d\u9069\uff0c\u56e0\u800c\u81ea\u5df1\u79fb\u4f4d\u6216\u8981\u6c42\u7167\u8b77\u8005\u5e6b\u4ed6\u5011\u632a\u52d5\u3002\u5efa\u8b70\u8f2a\u6905\u4f7f\u7528\u8005\u6bcf15\u5206\u9418\u79fb\u52d5\u4e00\u6b21\u8eab\u9ad4\uff0c\u4ee5\u907f\u514d\u75bc\u75db\u3002\u5c0d\u65bc\u7121\u6cd5\u81ea\u4e3b\u79fb\u4f4d\u7684\u4eba\uff0c\u7167\u8b77\u8005\u61c9\u8a72\u6bcf\u5c0f\u6642\u81f3\u5c11\u4e00\u6b21\u5e6b\u52a9\u4ed6\u5011\u6539\u8b8a\u5750\u59ff\u3002\u9084\u6709\u5404\u7a2e\u5404\u6a23\u7684\u8f2a\u6905\u5750\u588a\u53ef\u4ee5\u6e1b\u5c11\u58d3\u7621\u7684\u98a8\u96aa\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q75.\u810a\u690e\u5074\u5f4e\u662f\u808c\u840e\u75c7\u5e38\u898b\u7684\u4f75\u767c\u75c7\u55ce?<\/p><p class=\"auto-style2\">A:\u675c\u986f\u578b\u75c5\u7ae5\u5728\u5fc5\u9808\u4f7f\u7528\u8f2a\u6905\u4e4b\u524d\u901a\u5e38\u662f\u4e0d\u6703\u6709\u810a\u690e\u5074\u5f4e\u7684\u73fe\u8c61\u3002\u9084\u53ef\u4ee5\u884c\u8d70\u7684\u8c9d\u514b\u578b\u60a3\u8005\u3001\u5b69\u7ae5\u671f\u767c\u751f\u7684\u984f\u80a9\u80b1\u578b\u60a3\u8005\u4ee5\u53ca\u808c\u5f37\u76f4\u6027\u578b\u548c\u5148\u5929\u6027\u808c\u8089\u840e\u7e2e\u75c7\u7684\u60a3\u8005\uff0c\u90fd\u6703\u767c\u751f\u810a\u690e\u5074\u5f4e\u3002\u4ee5\u5916\u79d1\u624b\u8853\u77ef\u6b63\u810a\u690e\u5074\u5f4e\u662f\u6709\u5fc5\u8981\u7684\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q76.\u808c\u840e\u75c7\u60a3\u8005\u53ef\u4ee5\u5f9e\u4e8b\u6027\u6d3b\u52d5\u55ce\uff1f\u985e\u4f3c\u7684\u6d3b\u52d5\u5c0d\u4ed6\u5011\u6709\u50b7\u5bb3\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u8a31\u591a\u808c\u840e\u75c7\u60a3\u8005\u5f9e\u4e8b\u6027\u6d3b\u52d5\uff0c\u800c\u4e14\u5c0d\u4ed6\u5011\u4e00\u9ede\u4e5f\u6c92\u6709\u50b7\u5bb3\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q77.\u4ec0\u9ebc\u662f\u808c\u5f37\u76f4\u6027\u578b\u808c\u840e\u75c7(Myotonic dystrophy)\uff1f\u53ef\u4ee5\u6cbb\u7652\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u808c\u5f37\u76f4\u6027\u578b\u808c\u840e\u75c7\u901a\u5e38\u6703\u4fb5\u72af\u6210\u5e74\u4eba\uff0c\u4f46\u4e5f\u6709\u5728\u5b69\u7ae5\u671f\u5c31\u767c\u75c5\u7684\u3002\u5b83\u662f\u4ee5\u9032\u884c\u6027\u7684\u808c\u7121\u529b\u548c\u808c\u8089\u50f5\u786c\uff08\u808c\u76f4\u5f37\u6027\uff09\u9019\u5169\u9805\u7279\u5fb5\u800c\u6210\u4e00\u578b\u7684\u3002\u6b64\u5916\uff0c\u9019\u7a2e\u75c5\u7684\u75c7\u72c0\u53ef\u80fd\u5305\u542b\u5fc3\u81df\u554f\u984c\u3001\u767d\u5167\u969c\u3001\u7cd6\u5c3f\u75c5\u3001\u547c\u5438\u56f0\u96e3\u3001\u9ebb\u9189\u53cd\u61c9\u4e0d\u826f\u3001\u541e\u56a5\u56f0\u96e3\u3001\u6d88\u5316\u554f\u984c\u3001\u767d\u5929\u904e\u5ea6\u55dc\u7761\u3001\u4ee5\u53ca\u5152\u7ae5\u671f\u5b78\u7fd2\u56f0\u96e3\u3002\u5c0d\u65bc\u808c\u8089\u7121\u529b\u6c92\u6709\u7642\u6cd5\u53ef\u7528\uff0c\u4f46\u662f\u6709\u4e9b\u85e5\u5c0d\u65bc\u653e\u9b06\u808c\u5f37\u76f4\u7684\u73fe\u8c61\u662f\u6709\u6548\u7528\u7684\u3002 (\u8acb\u53c3\u95b1MDA\u7db2\u7ad9\u4e86\u89e3\u6709\u95dc\u808c\u5f37\u76f4\u71df\u990a\u4e0d\u826f\u7684\u8a73\u7d30\u8cc7\u6599\u3002)<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q78.\u4ec0\u9ebc\u662f\u591a\u767c\u6027\u808c\u708e(polymyositis)\u8207\u76ae\u808c\u708e(dermatomyositis)?<\/p><p class=\"auto-style2\">A:\u591a\u767c\u6027\u808c\u708e\u662f\u808c\u8089\u708e\u75c7\u6027\u75be\u75c5\u3002\u6709\u6025\u6027\u7684\u4e5f\u6709\u6162\u6027\u7684\u3002\u7576\u4f34\u6709\u76ae\u75b9\u6642\uff0c\u7a31\u70ba\u76ae\u808c\u708e\u3002\u9019\u5169\u7a2e\u75be\u75c5\u4e0d\u662f\u907a\u50b3\u6027\u7684\uff0c\u75c7\u72c0\u985e\u4f3c\u808c\u8089\u840e\u7e2e\u75c7\uff0c\u901a\u5e38\u6291\u5236\u4eba\u9ad4\u514d\u75ab\u53cd\u61c9\u7684\u85e5\u7269\u53ef\u4ee5\u6cbb\u7642\u6210\u529f\u3002\u6709\u4e9b\u75c5\u4f8b\u5c0d\u8840\u6f3f\u7f6e\u63db\u6cd5\uff08\u8840\u6f3f\u4ea4\u63db\uff09\u6cbb\u7642\u6709\u53cd\u61c9\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q79.\u4ec0\u9ebc\u662f\u808c\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\uff08ALS\uff09\uff1f\u5b83\u662f\u5426\u548c\u808c\u8089\u840e\u7e2e\u75c7\u76f8\u4eff\uff1f<\/p><p class=\"auto-style2\">A:ALS\u8207\u808c\u8089\u840e\u7e2e\u75c7\u6709\u5f88\u5927\u7684\u4e0d\u540c\u3002 \u5b83\u7684\u75c5\u60c5\u9032\u5c55\u5feb\u901f\u5c6c\u65bc\u6210\u4eba\u578b\u7684\u795e\u7d93\u808c\u8089\u75be\u75c5\uff0c\u6703\u9020\u6210\u808c\u8089\u7121\u529b\u548c\u75d9\u6523\uff0c\u6700\u7d42\u53ef\u80fd\u5c0e\u81f4\u541e\u56a5\u3001\u8aaa\u8a71\u548c\u547c\u5438\u56f0\u96e3\u3002\u81e8\u5e8a\u4e0a\u8a31\u591a\u8b8a\u7570\u7684\u51fa\u73fe\uff0c\u53d6\u6c7a\u65bc\u8166\u5e79\uff0c\u810a\u9ad3\u6216\u795e\u7d93\u7684\u54ea\u4e9b\u90e8\u5206\u53d7\u640d\u3002 ALS\u4e5f\u7a31\u70ba\u904b\u52d5\u795e\u7d93\u5143\u75be\u75c5\uff08MND\uff09\u6216Lou Gehrig\u75be\u75c5\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q80.\u810a\u9ad3\u6027\u808c\u840e\u7e2e\uff08SMA\uff09\u662f\u808c\u8089\u840e\u7e2e\u75c7\u7684\u4e00\u7a2e\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u4e0d\uff0c\u9019\u4e9b\u795e\u7d93\u808c\u8089\u75c7\u72c0\u662f\u56e0\u810a\u9ad3\u75be\u75c5\u800c\u5f8c\u5f15\u8d77\u7684\u808c\u8089\u7121\u529b\u3002SMA\u53ef\u5206\u70ba\u56db\u7a2e\u4e0d\u540c\u985e\u578b\uff0c\u5177\u6709\u4e0d\u540c\u7a0b\u5ea6\u7684\u56b4\u91cd\u6027\u3002\u7b2c\u4e00\u578b\uff08\u4e5f\u7a31\u70baWerdnig-Hoffmann\u75be\u75c5\uff09\u901a\u5e38\u5728\u65e9\u671f\u767c\u75c5\uff1b\u5728\u51fa\u751f\u6642\uff0c\u75c7\u72c0\u751a\u81f3\u53ef\u80fd\u662f\u660e\u986f\u7684\u3002\u76f8\u8f03\u4e4b\u4e0b\uff0c\u7b2c\u4e09\u578b\uff08\u4e5f\u7a31\u70baKugelberg-Welander\u75be\u75c5\uff09\u901a\u5e38\u767c\u751f\u5728\u9752\u5c11\u5e74\u548c\u5e74\u8f15\u7684\u6210\u5e74\u4eba\u3002\u60f3\u4e86\u89e3\u8a73\u7d30\u7684SMA\u8cc7\u6599\uff0c\u8acb\u53c3\u95b1MDA\u7db2\u7ad9\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q81.\u4ec0\u9ebc\u662f\u5148\u5929\u6027\u808c\u8089\u840e\u7e2e\u75c7\uff1f<\/p><p class=\"auto-style2\">A:\u5148\u5929\u6027\u808c\u8089\u840e\u7e2e\u75c7\u901a\u5e38\u5728\u51fa\u751f\u6642\u6703\u51fa\u73fe\u75c7\u72c0\u3002\u75c7\u72c0\u5305\u62ec\u5ee3\u6cdb\u6027\u808c\u8089\u7121\u529b\uff0c\u53ef\u80fd\u4f34\u96a8\u808c\u8089\u7e2e\u77ed\u5f15\u8d77\u7684\u95dc\u7bc0\u7578\u5f62\u3002\u81f3\u5c11\u670930\u7a2e\u4e0d\u540c\u7684\u985e\u578b\uff0c\u5f88\u591a\u985e\u578b\u7684\u9032\u5ea6\u5f88\u6162\uff1b\u6709\u4e9b\u6703\u4f7f\u58fd\u547d\u7e2e\u77ed\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q82.\u4ec0\u9ebc\u662f\u6070\u514b-\u99ac\u5229-\u675c\u65af\u6c0f\u75c7(Charcot-Marie-Toothdisease)\uff1f\u5b83\u8207\u808c\u8089\u840e\u7e2e\u75c7\u6703\u6df7\u6dc6\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u6070\u514b-\u99ac\u5229-\u675c\u65af\u6c0f\u75c7\uff08CMT\uff09\u662f\u4e00\u7a2e\u5468\u570d\u795e\u7d93\u7cfb\u7d71\u75be\u75c5\u3002\u5176\u7279\u5fb5\u662f\u9032\u884c\u6027\u5730\u7834\u58de\u808c\u8089\uff0c\u7279\u5225\u662f\u817f\u90e8\uff0c\u8173\u90e8\u7578\u5f62\u548c\u624b\u90e8\u90e8\u5206\u808c\u8089\u7684\u865b\u5f31\u3002\u96d6\u7136\u5b69\u7ae5\u53ef\u80fd\u53d7\u5230\u5f71\u97ff\uff0c\u5b83\u7684\u767c\u75c5\u901a\u5e38\u5728\u6210\u5e74\u671f\u3002\u5f88\u5c11\u6703\u8207\u808c\u8089\u840e\u7e2e\u75c7\u6df7\u6dc6\u3002\u4e86\u89e3\u8a73\u7d30\u7684CMT\u8cc7\u6599\uff0c\u8acb\u53c3\u95b1MDA\u7db2\u7ad9\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q83.\u826f\u6027\u5148\u5929\u6027\u4f4e\u5f35\u529b\u662f\u5426\u662f\u4e00\u7a2e\u808c\u8089\u75be\u75c5\uff1f<\/p><p class=\"auto-style2\">A:\u662f\u7684\uff0c\u9019\u662f\u4e00\u7a2e\u75c5\u75c7\uff0c\u53ef\u7531\u51fa\u751f\u6642\u808c\u8089\u7684\u865b\u5f31\u548c\u67d4\u8edf\u4f86\u5340\u5206\uff0c\u6c92\u6709\u5178\u578b\u808c\u8089\u840e\u7e2e\u75c7\u7684\u75c7\u72c0\u3002\u76ee\u524d\uff0c\u6839\u64da\u5176\u4ed6\u689d\u4ef6\uff0c\u53ef\u4ee5\u66f4\u6e96\u78ba\u5730\u8a3a\u65b7\u5152\u7ae5\uff0c\u56e0\u6b64\u9019\u7a2e\u8a3a\u65b7\u5f88\u5c11\u51fa\u73fe\u3002\u7136\u800c\uff0c\u826f\u6027\u5148\u5929\u6027\u4f4e\u5f35\u529b\u4e00\u8a5e\u4ecd\u7136\u5076\u723e\u6703\u88ab\u7528\u65bc\u63cf\u8ff0\u8f15\u5ea6\u808c\u8089\u7121\u529b\u3001\u9810\u671f\u4e0d\u6703\u6709\u4e0d\u826f\u5f8c\u679c\u4e14\u5728\u73fe\u968e\u6bb5\u7121\u6cd5\u505a\u51fa\u5176\u4ed6\u8a3a\u65b7\u7684\u5152\u7ae5\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q84.\u4ec0\u9ebc\u662f\u5148\u5929\u6027\u548c\u4ee3\u8b1d\u6027\u808c\u75c5\uff1f<\/p><p class=\"auto-style2\">A:\u5148\u5929\u6027\u808c\u75c5\u662f\u4e00\u7fa4\u4ee5\u808c\u8089\u7121\u529b\u70ba\u7279\u5fb5\u7684\u808c\u8089\u75be\u75c5\uff0c\u53ef\u80fd\u5728\u51fa\u751f\u6642\u5c31\u6709\u75c7\u72c0\uff0c\u4f46\u662f\u6709\u4e9b\u76f4\u5230\u5152\u7ae5\u665a\u671f\u624d\u51fa\u73fe\u3002\u5148\u5929\u6027\u808c\u75c5\u5305\u62ec\u795e\u7d93\u808c\u75c5\uff0c\u808c\u7d30\u80de\u808c\u75c5\u548c\u4e2d\u8166\u6027\u808c\u75c5\u3002\u4ee3\u8b1d\u6027\u808c\u75c5\u662f\u7531\u7279\u5b9a\u7684\u9176\u7f3a\u9677\u6216\u5176\u4ed6\u808c\u8089\u4ee3\u8b1d\u969c\u7919\u5f15\u8d77\u7684\u3002\u9019\u4e9b\u75c5\u75c7\u7684\u808c\u8089\u7121\u6cd5\u7522\u751f\u8db3\u5920\u7684\u80fd\u91cf\u4ee5\u6b63\u5e38\u5de5\u4f5c\u3002\u9019\u4e9b\u75be\u75c5\u5305\u62ec\u78f7\u9178\u5316\u9176\u7f3a\u4e4f\u75c7; \u9178\u6027\u9ea5\u82bd\u7cd6\u9176\u7f3a\u4e4f\uff0c\u812b\u6c28\u9176\u7f3a\u4e4f\u548c\u8089\u9e7c\u68d5\u6ada\u8f49\u79fb\u9176\u7f3a\u4e4f\u3002\u5148\u5929\u6027\u548c\u4ee3\u8b1d\u6027\u808c\u75c5\u901a\u5e38\u662f\u900f\u904e\u5bb6\u65cf\u907a\u50b3\u7684\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q85.\u4ec0\u9ebc\u662f\u9060\u7aef\u808c\u8089\u840e\u7e2e\u75c7\u548c\u773c\u54bd\u578b\u808c\u8089\u840e\u7e2e\u75c7\uff1f<\/p><p class=\"auto-style2\">A:\u9060\u7aef\u808c\u8089\u840e\u7e2e\u75c7\u662f\u4e00\u7a2e\u7f55\u898b\u7684\u75be\u75c5\uff0c\u6700\u521d\u4e3b\u8981\u5f71\u97ff\u624b\u548c\u8173\u7684\u5c0f\u808c\u8089\u3002\u773c\u54bd\u578b\u808c\u8089\u840e\u7e2e\u75c7\u662f\u4e00\u7a2e\u7f55\u898b\u7684\u75c5\u75c7\uff0c\u901a\u5e38\u5728\u6210\u5e74\u671f\u51fa\u73fe\uff0c\u4e26\u4e14\u7de9\u6162\u9032\u884c\u3002\u773c\u775b\u548c\u54bd\u90e8\u7684\u808c\u8089\u53d7\u5230\u5f71\u97ff\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q86.\u4f55\u8b02\u91cd\u75c7\u808c\u7121\u529b\u75c7(myasthenia gravis)\uff1f<\/p><p class=\"auto-style2\">A:\u91cd\u75c7\u808c\u7121\u529b\u662f\u81ea\u9ad4\u514d\u75ab\u7570\u5e38\u7684\u75c5\u75c7\uff0c\u5f71\u97ff\u795e\u7d93\u548c\u808c\u8089\u4ea4\u754c\u8655\u7684\u7d50\u69cb\u3002\u75c7\u72c0\u5305\u62ec\u808c\u8089\u7121\u529b\uff0c\u75b2\u52de\u548c\u4e0a\u77bc\u4e0b\u5782\uff08\u773c\u77bc\u4e0b\u5782\uff09\u3002\u85e5\u7269\u6cbb\u7642\u53ef\u4ee5\u7528\u65bc\u6cbb\u7642\u9019\u7a2e\u75c5\u75c7\u3002\u5728\u6cbb\u7642\u9078\u5b9a\u7684\u75c5\u4f8b\u65b9\u9762\uff0c\u8840\u6f3f\u4ea4\u63db\uff08\u8840\u6f3f\u53d6\u51fa\u6cd5\uff09\u4e5f\u662f\u6709\u6548\u7684\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q87.\u4f55\u8b02Friedreid\u904b\u52d5\u5931\u8abf\u75c7\uff1f\u662f\u808c\u8089\u75be\u75c5\u55ce\uff1f<\/p><p class=\"auto-style2\">A:Friedreid\u904b\u52d5\u5931\u8abf\u75c7\u4e0d\u662f\u808c\u8089\u840e\u7e2e\u75c7\u9019\u985e\u808c\u8089\u75be\u75c5\u7684\u539f\u767c\u75c5\u3002\u9019\u662f\u4e00\u7a2e\u907a\u50b3\u6027\u75be\u75c5\uff0c\u6703\u6301\u7e8c\u5730\u6bc0\u58de\u795e\u7d93\u7cfb\u7d71\uff0c\u9020\u6210\u808c\u8089\u7121\u529b\u3001\u8a9e\u8a00\u554f\u984c\u4ee5\u53ca\u5fc3\u81df\u75c5\u7b49\u75c7\u72c0\u3002\u904b\u52d5\u5931\u8abf\uff08\u808c\u8089\u7f3a\u4e4f\u5354\u8abf\uff09\u662f\u7531\u810a\u9ad3\u795e\u7d93\u7d44\u7e54\u7684\u9000\u5316\u4ee5\u53ca\u63a7\u5236\u624b\u81c2\u548c\u817f\u90e8\u808c\u8089\u904b\u52d5\u7684\u795e\u7d93\u7d44\u7e54\u6240\u5f15\u8d77\u7684\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q88.\u6211\u6216\u6211\u7684\u5b69\u5b50\u662f\u5426\u53ef\u4ee5\u7d0d\u5165\u81e8\u5e8a\u8a66\u9a57\uff1f<\/p><p class=\"auto-style2\">A:\u8981\u53c3\u52a0\u81e8\u5e8a\u8a66\u9a57\uff0c\u60a8\u901a\u5e38\u5fc5\u9808\u4f4f\u5728\u96e2\u9032\u884c\u8a66\u9a57\u7684\u8a3a\u6240\u5f88\u8fd1\u7684\u5730\u65b9\uff0c\u4e26\u9075\u5b88\u67d0\u4e9b\u7d0d\u5165\u548c\u6392\u9664\u7684\u898f\u5b9a\u3002\u53ef\u80fd\u6703\u6709\u8a31\u591a\u4e0d\u540c\u7684\u6a19\u6e96\uff0c\u6bcf\u500b\u81e8\u5e8a\u8a66\u9a57\u90fd\u898f\u5b9a\u5f97\u975e\u5e38\u5177\u9ad4\u3002\u5982\u679c\u60a8\u6216\u60a8\u7684\u5c0f\u5b69\u5c07\u4f86\u9858\u610f\u96a8\u6642\u53c3\u52a0\u81e8\u5e8a\u8a66\u9a57\uff0c\u6700\u597d\u7684\u65b9\u6cd5\u662f\u53ca\u65e9\u8207\u91ab\u9662\u7684\u9867\u554f\u9032\u884c\u8a0e\u8ad6\u3002\u5343\u842c\u8a18\u4f4f\uff0c\u81e8\u5e8a\u8a66\u9a57\u7684\u85e5\u7269\u4e26\u4e0d\u662f\u6cbb\u7642\uff0c\u53cd\u800c\u662f\u6709\u98a8\u96aa\u5b58\u5728\u7684\u3002\u6709\u95dc\u81e8\u5e8a\u8a66\u9a57\u7684\u66f4\u591a\u4fe1\u606f\uff0c\u8acb\u53c3\u8003MDA\u7db2\u7ad9\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q89.\u672a\u4f86\u6703\u5982\u4f55\uff1f\u6709\u5e0c\u671b\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u96d6\u7136\u76ee\u524d\u7121\u6cd5\u6cbb\u6108\u808c\u8089\u840e\u7e2e\u75c7\uff0c\u4f46\u76f8\u95dc\u7814\u7a76\u6b63\u5927\u6b65\u5411\u524d\u9081\u9032\uff0c\u5e7e\u9805\u9817\u5177\u5e0c\u671b\u7684\u6cbb\u7642\u65b9\u6cd5\u76ee\u524d\u6b63\u91dd\u5c0d\u4e0d\u540c\u985e\u578b\u7684\u808c\u8089\u840e\u7e2e\u75c7\u9032\u884c\u81e8\u5e8a\u8a66\u9a57\uff0c\u4f7f\u5f97\u6709\u6548\u6cbb\u7642\u5373\u5c07\u4f86\u81e8\u7684\u5e0c\u671b\uff0c\u5145\u6eff\u53ef\u80fd\u3002\u5982\u4f55\u61c9\u4ed8\u75be\u75c5\u75c7\u72c0\u7684\u76f8\u95dc\u77e5\u8b58\u8d8a\u4f86\u8d8a\u591a\uff0c\u56e0\u6b64\u76f8\u8f03\u65bc\u524d\u5e7e\u4e16\u4ee3\uff0c\u751f\u6d3b\u54c1\u8cea\u5df2\u7d93\u5927\u5927\u63d0\u9ad8\u3002\u5c0dDMD\u9019\u985e\u5e73\u5747\u58fd\u547d\u5f88\u4f4e\u7684\u75be\u75c5\u800c\u8a00\uff0c\u512a\u826f\u7684\u7167\u8b77\u54c1\u8cea\u5728\u904e\u53bb30\u5e74\u4e2d\u4e5f\u5c07\u58fd\u547d\u5ef6\u9577\u4e8610\u5e74\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q90.\u5982\u4f55\u8ddf\u5f97\u4e0a\u6700\u65b0\u7684\u7814\u7a76\u548c\u81e8\u5e8a\u8a66\u9a57\u65b0\u805e\uff1f<\/p><p class=\"auto-style2\">A:\u95dc\u6ce8MDA\u7db2\u7ad9\uff0c\u6240\u6709\u4e3b\u8981\u7684\u7814\u7a76\u9032\u5c55\u90fd\u6703\u5728\u9019\u88e1\u5831\u5c0e\u3002\u76f8\u95dc\u7814\u7a76\u7684\u65b0\u805e\u6458\u8981\u6703\u520a\u767b\u5728\u6211\u5011\u6bcf\u5e74\u767c\u5e033\u52304\u6b21\u7684\u901a\u8a0a\u520a\u7269\u300c\u7814\u7a76\u4e4b\u8def\u300d\u3002\u52a0\u5165MDA Facebook\u9801\u9762\u6210\u70ba\u670b\u53cb\uff0c\u60a8\u53ef\u4ee5\u7372\u5f97\u5b9a\u671f\u66f4\u65b0\u7684\u8cc7\u6599\u3002\u5176\u4ed6\u4e0d\u932f\u7684\u7814\u7a76\u65b0\u805e\u4f86\u6e90\u51fa\u81ea\u4e16\u754c\u5176\u4ed6\u4e3b\u8981\u7684\u808c\u8089\u7e2e\u7e2e\u75c7\u6148\u5584\u6a5f\u69cb\uff0c\u4f8b\u5982\uff0c\u82f1\u570b\u7684\u300c\u808c\u8089\u7e2e\u7e2e\u75c7\u6b0a\u76ca\u4fc3\u9032\u6703\u300d\u548c\u7f8e\u570b\u7684\u300c\u808c\u8089\u7e2e\u7e2e\u75c7\u5354\u6703\u300d\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q91.\u6211\u5728\u7db2\u8def\u4e0a\u95b1\u8b80\u5230\u808c\u8089\u7e2e\u7e2e\u75c7\u5df2\u7d93\u627e\u5230\u6cbb\u7642\u65b9\u6cd5\u7684\u6d88\u606f\uff0c\u6211\u600e\u9ebc\u77e5\u9053\u9019\u662f\u5426\u662f\u771f\u7684\uff1f<\/p><p class=\"auto-style2\">A:\u806f\u7e6bMDA\u3002\u6211\u5011\u7684\u79d1\u5b78\u50b3\u64ad\u90e8\u9580\u6703\u5354\u52a9\u60a8\uff08\u806f\u7e6b\u9801\u9762\u5e95\u90e8\u7684\u8a73\u7d30\u4fe1\u606f\uff09\u3002\u907a\u61be\u7684\u662f\uff0c\u904e\u5206\u71b1\u5fc3\u7684\u8a18\u8005\u5c0d\u9019\u500b\u554f\u984c\u6c92\u6709\u771f\u6b63\u7684\u4e86\u89e3\uff0c\u5e38\u5e38\u7d66\u4eba\u4e0d\u6b63\u78ba\u7684\u671f\u5f85\u3002\u96d6\u7136\u4e16\u754c\u5404\u5730\u7684\u7814\u7a76\u5be6\u9a57\u5ba4\u90fd\u6709\u8a31\u591a\u524d\u666f\u770b\u597d\u7684\u9032\u5c55\uff0c\u4f46\u662f\u8981\u8f49\u5316\u70ba\u6210\u529f\u7684\u6cbb\u7642\uff0c\u53ef\u80fd\u9084\u6709\u4e00\u6bb5\u6642\u9593\u3002\u8acb\u53c3\u8003\u4e0a\u6587Q90\uff0c\u4ee5\u7372\u5f97\u4f86\u81ea\u6709\u4fe1\u8b7d\u7684\u7814\u7a76\u65b0\u805e\u8cc7\u8a0a\uff0c\u9019\u5c07\u6709\u52a9\u65bc\u9069\u5ea6\u5730\u770b\u5f85\u7814\u7a76\u9032\u5c55\uff0c\u4fdd\u6301\u7406\u6027\u6a02\u89c0\u7684\u671f\u5f85\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q92.\u6211\u662f\u5168\u5929\u5019\u7684\u7167\u9867\u8005\uff1b\u6211\u5982\u4f55\u5f97\u5230\u652f\u6301\u8207\u5598\u606f\u670d\u52d9\uff1f<\/p><p class=\"auto-style2\">A:CampMDA\u4ee5\u53caOperationMD\u6bcf\u5e74\u8209\u884c\u56db\u6b21\uff0c\u6bcf\u6b21\u4e00\u5468\u7684\u6d3b\u52d5\u71df\uff01 ShortBreak \u5247\u5168\u5e74\u90fd\u6709\u8209\u884c\u3002\u9019\u4e9b\u6d3b\u52d5\u4f7f\u7f79\u60a3\u808c\u8089\u7e2e\u7e2e\u75c7\u7684\u5152\u7ae5\u548c\u6210\u5e74\u4eba\uff0c\u6709\u6a5f\u6703\u5728\u6b61\u6a02\u548c\u8f15\u9b06\u7684\u74b0\u5883\u4e2d\u8207\u540c\u5e74\u9f61\u7684\u4eba\u76f8\u8655\uff0c\u540c\u6642\u7d66\u4e88\u7167\u9867\u8005\u4e00\u500b\u8feb\u5207\u9700\u8981\u7684\u4f11\u606f\u6642\u9593\u3002\u6709\u95dc\u5598\u606f\u670d\u52d9\u7684\u66f4\u591a\u8a0a\u606f\uff0c\u8acb\u81f3MDA\u7db2\u7ad9\u641c\u5c0b\u3002\u53e6\u5916\uff0c\u7167\u9867\u8005\u652f\u6301\u5c0f\u7d44\uff0c\u4e5f\u6709\u63d0\u4f9b\u76f8\u540c\u7684\u670d\u52d9\u3002\u8acb\u806f\u7e6bMDA\u7372\u53d6\u66f4\u591a\u8a0a\u606f\uff08\u9801\u9762\u5e95\u90e8\u7684\u806f\u7e6b\u65b9\u5f0f\uff09\u3002\u8207\u60a8\u7684\u91ab\u751f\u8a0e\u8ad6\u5598\u606f\u65b9\u6848\u4e5f\u8a31\u6709\u5e6b\u52a9\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q93.\u6d3b\u52d5\u71df\u53ea\u9069\u5408\u5b69\u5b50\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u6839\u672c\u4e0d\u662f\u3002\u6d3b\u52d5\u71df\u662f\u70ba\u6240\u6709\u60a3\u8005\u8209\u8fa6\u7684\u3002\u4e4b\u524d\uff0c\u66fe\u6709\u9ad8\u9f6176\u6b72\u7684\u60a3\u8005\u53c3\u52a0CampMDA\uff0c\u5f9e\u4e2d\u5f97\u5230\u6a02\u8da3\u3002<\/p><p>\u00a0<\/p><p class=\"auto-style1\">Q94.\u6211\u66fe\u770b\u5230\u4e00\u500b\u8a3a\u520a\u767b\u5e79\u7d30\u80de\u6cbb\u7642\u808c\u8089\u7e2e\u7e2e\u75c7\u7684\u5ee3\u544a\uff0c\u6211\u61c9\u8a72\u8a66\u8a66\u55ce\uff1f<\/p><p class=\"auto-style2\">A:\u7f79\u60a3\u56b4\u91cd\u3001\u865b\u5f31\u4e14\u7d93\u5e38\u5a01\u8105\u751f\u547d\u7684\u795e\u7d93\u808c\u8089\u75be\u75c5\u60a3\u8005\u9858\u610f\u5617\u8a66\u4efb\u4f55\u53ef\u80fd\u6cbb\u75c5\u7684\u7642\u6cd5\uff0c\u9019\u662f\u5b8c\u5168\u53ef\u4ee5\u7406\u89e3\u7684\u3002\u7136\u800c\uff0c\u63d0\u4f9b\u6240\u8b02\u300c\u5e79\u7d30\u80de\u6cbb\u7642\u6cd5\u300d\u7684\u8a3a\u6240\u662f\u4e0d\u53d7\u7ba1\u5236\u7684\uff0c\u4e14\u8981\u50f9\u6602\u8cb4\uff0c\u6c92\u6709\u4efb\u4f55\u8b49\u64da\u8b49\u660e\u5176\u5b89\u5168\u6027\u6216\u6709\u6548\u6027\u3002\u56e0\u6b64\uff0c\u5b83\u5011\u5145\u5176\u91cf\u53ef\u80fd\u53ea\u4e0d\u904e\u662f\u7121\u6548\uff1b\u4f46\u662f\u5f80\u58de\u8655\u60f3\uff0c\u53ef\u80fd\u6709\u5371\u96aa\u751a\u81f3\u6703\u55aa\u547d\u3002 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