{"id":3769,"date":"2020-12-03T09:38:38","date_gmt":"2020-12-03T15:38:38","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=3769"},"modified":"2024-02-09T14:24:25","modified_gmt":"2024-02-09T14:24:25","slug":"individual-with-lgmd-saira","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/zh\/individuals-with-lgmd-interviews\/2020\/12\/03\/individual-with-lgmd-saira\/","title":{"rendered":"\u60a3\u6709 LGMD \u7684\u4e2a\u4eba - \u8d5b\u62c9"},"content":{"rendered":"

\"\"<\/a><\/strong><\/p>\n

\u540d\u79f0<\/strong>: \u8d5b\u62c9<\/p>\n

\u5e74\u9f84<\/strong>: 29<\/p>\n

\u56fd\u5bb6<\/strong>:\u751f\u6d3b\u5728\u963f\u8054\u914b\u7684\u5370\u5ea6\u4eba<\/p>\n

LGMD \u5b50\u7c7b\u578b<\/strong> (\u5982\u679c\u77e5\u9053\uff09\uff1aLGMD 2B\/R2 Dysferlin-related<\/p>\n

\u00a0<\/strong><\/p>\n

\u60a8\u5728\u51e0\u5c81\u65f6\u88ab\u786e\u8bca<\/strong>:<\/p>\n

\u6211\u5728 16 \u5c81\u65f6\u88ab\u786e\u8bca\u3002\u6211\u662f\u5728 2020 \u5e74 2 \u6708\u5f97\u5230\u57fa\u56e0\u786e\u8ba4\u7684\u3002<\/p>\n

\u60a8\u6700\u521d\u7684\u75c7\u72b6\u662f\u4ec0\u4e48\uff1f<\/strong>:<\/p>\n

\u7a81\u7136\u6454\u5012\u548c\u4ece\u5730\u4e0a\u5750\u8d77\u6765\u662f\u6700\u521d\u7684\u75c7\u72b6\u3002<\/p>\n

\u60a8\u662f\u5426\u6709\u5176\u4ed6\u5bb6\u5ead\u6210\u5458\u60a3\u6709 LGMD\uff1a <\/strong><\/p>\n

\u4e0d\uff0c\u6211\u7684\u5bb6\u5ead\u6210\u5458\u4e2d\u6ca1\u6709\u4eba\u60a3\u6709 LGMD\u3002\u6211\u662f\u552f\u4e00\u88ab\u8bca\u65ad\u60a3\u6709 LGMD \u7684\u4eba\u3002<\/p>\n

\u60a8\u8ba4\u4e3a LGMD \u60a3\u8005\u751f\u6d3b\u4e2d\u6700\u5927\u7684\u6311\u6218\u662f\u4ec0\u4e48\uff1f<\/strong><\/p>\n

\u73af\u5883\u969c\u788d\u548c\u8f6e\u6905\u65e0\u969c\u788d\u3002\u63d0\u4f9b\u5c31\u4e1a\u673a\u4f1a\uff0c\u907f\u514d\u56e0\u6211\u7684\u80fd\u529b\u800c\u8499\u53d7\u803b\u8fb1\u3002 \u7f3a\u4e4f\u5bf9 LGMD \u548c\u5feb\u901f\u8bca\u65ad\u53cd\u5e94\u611f\u5174\u8da3\u7684\u795e\u7ecf\u79d1\u533b\u751f\u3002LGMD \u7684\u8fdb\u5c55\uff0c\u4ee5\u53ca\u5982\u4f55\u5e94\u5bf9\u75be\u75c5\u5e26\u6765\u7684\u6301\u7eed\u6311\u6218\u3002\u5bf9\u4e8e\u6709\u52a9\u4e8e\u65e5\u5e38\u6d3b\u52a8\u7684\u8bbe\u5907\u7c7b\u578b\u51e0\u4e4e\u6ca1\u6709\u4efb\u4f55\u6307\u5bfc\u3002<\/p>\n

\u60a8\u6700\u5927\u7684\u6210\u5c31\u662f\u4ec0\u4e48\uff1f<\/strong>:<\/p>\n

\u6211\u5728\u963f\u8054\u914b\u7684\u4e00\u5bb6\u516c\u53f8\u5f00\u59cb\u4e86\u65b0\u7684\u5de5\u4f5c\uff0c\u4ed6\u4eec\u8ba9\u6211\u5728\u5bb6\u5de5\u4f5c\uff0c\u4f5c\u4e3a\u4e00\u79cd\u65e0\u969c\u788d\u4fbf\u5229\uff0c\u8ba9\u6211\u878d\u5165\u5176\u4e2d\u3002\u73b0\u5728\uff0c\u6211\u6bcf\u5929\u90fd\u5728 Inclusive \u5de5\u4f5c\uff0c\u4ee5\u521b\u9020\u5168\u7403\u5f71\u54cd\u529b\uff0c\u8ba9\u8fd9\u4e2a\u4e16\u754c\u5728\u7ebf\u4e0a\u548c\u7ebf\u4e0b\u66f4\u52a0\u65e0\u969c\u788d\u3002<\/p>\n

LGMD \u662f\u5982\u4f55\u5f71\u54cd\u60a8\u6210\u4e3a\u4eca\u5929\u7684\u81ea\u5df1\u7684\uff1f <\/strong><\/p>\n

\u5b83\u8ba9\u6211\u5bf9\u751f\u6d3b\u6709\u4e86\u65b0\u7684\u8ba4\u8bc6\uff0c\u8ba9\u6211\u61c2\u5f97\u73cd\u60dc\u65f6\u95f4\u548c\u73b0\u5728\u7684\u80fd\u529b\u3002<\/p>\n

\u6211\u53ef\u80fd\u65e0\u6cd5\u50cf\u5176\u4ed6\u4eba\u4e00\u6837\u8eab\u4f53\u529b\u884c\u5730\u505a\u6bcf\u4e00\u4ef6\u4e8b\uff0c\u4f46\u8fd9\u5e76\u4e0d\u610f\u5473\u7740\u6211\u5bf9\u5f71\u54cd\u6211\u4eec\u5171\u540c\u5206\u4eab\u7684\u4e16\u754c\u6beb\u65e0\u8d21\u732e\u3002<\/p>\n

LGMD \u6559\u4f1a\u6211\u5bf9\u5bb6\u4eba\u5fc3\u5b58\u611f\u6fc0\uff0c\u56e0\u4e3a\u4ed6\u4eec\u7ed9\u4e88\u4e86\u6211\u65e0\u5fae\u4e0d\u81f3\u7684\u652f\u6301\u3002<\/p>\n

\u5b83\u8ba9\u6211\u66f4\u52a0\u70ed\u7231\u751f\u6d3b\uff0c\u70ed\u7231\u6bcf\u4e00\u523b\u3002<\/p>\n

\u7531\u4e8e\u8fd9\u662f\u4e00\u79cd\u9000\u884c\u6027\u75be\u75c5\uff0c\u75c5\u60c5\u4f1a\u4e0d\u65ad\u53d1\u5c55\uff0c\u6211\u4eca\u5929\u80fd\u505a\u7684\u4e8b\u60c5\uff0c\u6765\u5e74\u53ef\u80fd\u5c31\u505a\u4e0d\u4e86\u4e86\u3002\u56e0\u6b64\uff0c\u6211\u8bd5\u7740\u4eab\u53d7\u4eca\u5929\u3001\u73b0\u5728\u6240\u80fd\u505a\u7684\u6bcf\u4e00\u4e2a\u80a2\u4f53\u52a8\u4f5c\u3002\u4ece\u68b3\u5934\u5f00\u59cb\uff0c\u5230\u4e3a\u81ea\u5df1\u6ce1\u4e00\u676f\u8336\uff0c\u6211\u90fd\u5f88\u73cd\u60dc\u3002<\/p>\n

\u60a8\u5e0c\u671b\u4e16\u754c\u4e86\u89e3 LGMD \u7684\u54ea\u4e9b\u65b9\u9762\uff1f<\/strong>:<\/p>\n

\u6211\u5e0c\u671b\u5168\u4e16\u754c\u90fd\u77e5\u9053\uff0c\u8fd9\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u75be\u75c5\u3002\u5b83\u53ef\u80fd\u53d1\u751f\u5728\u4efb\u4f55\u4eba\u8eab\u4e0a\u3002\u5b83\u53ef\u80fd\u53d1\u751f\u5728\u6b63\u5728\u9605\u8bfb\u8fd9\u7bc7\u6587\u7ae0\u7684\u4f60\u8eab\u4e0a\uff0c\u4e5f\u53ef\u80fd\u53d1\u751f\u5728\u4f60\u4e0d\u8ba4\u8bc6\u7684\u4eba\u8eab\u4e0a\u3002\u4f46\u662f\uff0c\u4eba\u4eec\u6b63\u5728\u5fcd\u53d7\u7740\u8fd9\u79cd\u808c\u8089\u840e\u7f29\u6027\u75be\u75c5\uff0c\u7b49\u5f85\u7740\u5b83\u7684\u6cbb\u6108\u3002\u6211\u53ef\u4ee5\u7ed9\u4f60\u4e3e\u4e00\u4e2a\u5927\u6d41\u884c\u75c5\u7684\u4f8b\u5b50\uff0c\u770b\u770b\u5168\u4e16\u754c\u7684\u79d1\u5b66\u5bb6\u662f\u5982\u4f55\u4e89\u5206\u593a\u79d2\u5730\u5bfb\u627e\u75ab\u82d7\u7684\u3002\u800c\u5bf9\u4e8e LGMD \u800c\u8a00\uff0c\u51e0\u5341\u5e74\u7684\u7814\u7a76\u90fd\u6ca1\u6709\u7ed3\u679c\uff0c\u7f3a\u4e4f\u8d44\u91d1\u6216\u7f3a\u4e4f\u653f\u5e9c\u652f\u6301\u662f\u5176\u4e2d\u7684\u51e0\u4e2a\u539f\u56e0\u3002\u4ece\u51fa\u73b0\u75c7\u72b6\u5230\u786e\u8bca\uff0c\u76f4\u5230\u6211\u63a5\u53d7 LGMD \u5e76\u5f00\u59cb\u4e0e\u5b83\u5171\u5b58\uff0c\u8fd9\u662f\u4e00\u6bb5\u5b64\u72ec\u7684\u65c5\u7a0b\u3002\u4e08\u592b\u3001\u5bb6\u4eba\u548c\u670b\u53cb\u7684\u652f\u6301\u6bcf\u5929\u90fd\u5728\u7ed9\u6211\u52c7\u6c14\u3002\u6bcf\u6b21\u770b\u533b\u751f\u65f6\uff0c\u6211\u90fd\u4f1a\u9047\u5230\u7f3a\u4e4f\u4e13\u5bb6\u3001\u7f3a\u4e4f\u76f8\u5173\u77e5\u8bc6\u7684\u95ee\u9898\u3002\u6211\u4eec\u9700\u8981\u5728\u4e00\u4e2a\u6ca1\u6709\u969c\u788d\u7684\u73af\u5883\u4e2d\u83b7\u5f97\u5171\u9e23\u3002\u6628\u5929\u6211\u8fd8\u80fd\u8d70\u8def\uff0c\u4eca\u5929\u6211\u5c31\u9700\u8981\u5750\u8f6e\u6905\u4e86\u3002\u5982\u679c\u4eba\u4eec\u4e86\u89e3 LGMD\uff0c\u5c31\u4f1a\u66f4\u5bb9\u6613\u4e3a\u6211\u7684\u75c5\u60c5\u8fa9\u89e3\u3002<\/p>\n

\u5982\u679c\u60a8\u7684 LGMD \u660e\u5929\u5c31\u80fd \"\u6cbb\u6108\"\uff0c\u60a8\u9996\u5148\u60f3\u505a\u7684\u662f\u4ec0\u4e48\uff1f<\/strong>:<\/p>\n

\u6211\u56de\u7b54\u7684\u95ee\u9898\u662f\u5047\u8bbe\u6027\u7684\u3002\u6211\u591a\u4e48\u5e0c\u671b\u80fd\u628a\u5b83\u5f53\u4f5c\u5b9e\u9645\u95ee\u9898\u6765\u56de\u7b54\uff0c\u6211\u6000\u7740\u79ef\u6781\u548c\u5e0c\u671b\u671f\u5f85\u7740\u8fd9\u4e00\u5929\u7684\u5230\u6765\u3002<\/p>\n

\u8fd9\u4e00\u5929\u4e5f\u8bb8\u8fd8\u5f88\u9065\u8fdc\uff0c\u4e5f\u8bb8\u5f88\u5feb\u5c31\u4f1a\u5230\u6765\u3002\u6211\u5f88\u60f3\u8dea\u4e0b\u6765\u7948\u7977\uff0c\u5c31\u50cf\u6211\u7684\u5b97\u6559\u4fe1\u4ef0\u90a3\u6837\u3002\u6211\u5f88\u60f3\u8df3\u821e\u548c\u6ed1\u51b0\uff0c\u4f46\u7531\u4e8e\u6211\u60a3\u6709 LGMD\uff0c\u6211\u518d\u4e5f\u4e0d\u80fd\u8fd9\u6837\u505a\u4e86\u3002\u6211\u5e0c\u671b\u80fd\u5f00\u8f66\u3002\u6211\u6e34\u671b\u91cd\u65b0\u72ec\u7acb\u3002<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":3836,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,22],"tags":[],"class_list":["post-3769","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2b"],"acf":[],"yoast_head":"\nINDIVIDUAL WITH LGMD - Saira - LGMD Awareness Foundation<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.lgmd-info.org\/zh\/individuals-with-lgmd-interviews\/2020\/12\/03\/individual-with-lgmd-saira\/\" 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