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\u9031\u6642\u5148\u65bd\u6253\u985e\u56fa\u9187\u4fc3\u9032\u80ce\u80ba\u6210\u719f\uff0c\u518d\u5b89\u6392\u5256\u8179\u751f\u7522\uff0c\u6700\u5f8c\u7e3d\u7b97\u6bcd\u5b50\u5747\u5b89\uff0c\u674e\u5c0f\u59d0\u611f\u52d5\u5730\u8aaa\uff0c\u300c\u91ab\u5e2b\u4e00\u9031\u5b89\u6392\u5169\u6b21\u8ffd\u8e64\uff0c\u8010\u5fc3\u5206\u6790\u6bcf\u500b\u98a8\u96aa\uff0c\u8b93\u6211\u5728\u6700\u7dca\u5f35\u7684\u6642\u523b\u4e5f\u89ba\u5f97\u5b89\u5fc3\uff0c\u771f\u7684\u975e\u5e38\u611f\u8b1d\u9ad8\u91ab\u5718\u968a\u4e00\u8def\u4e0a\u7684\u5b88\u8b77\u3002\u300d  \u53e6\u4e00\u540d\u810a\u9ad3\u808c\u8089\u840e\u7e2e\u75c7(Spinal Muscular Atrophy, SMA)\u75c5\u7ae5\u51fa\u751f\u4e0d\u4e45\u5f8c\u5373\u9677\u5165\u547c\u5438\u7a98\u8feb\u8207\u9935\u98df\u56f0\u96e3\uff0c\u7531\u65bcSMA\u662f\u5168\u7403\u5b30\u5152\u6b7b\u4ea1\u7387\u6700\u9ad8\u7684\u907a\u50b3\u75be\u75c5\uff0c\u7236\u6bcd\u4e00\u5ea6\u4ee5\u70ba\u770b\u4e0d\u5230\u5b69\u5b50\u9577\u5927\uff0c\u4f46\u4ed6\u5011\u5e36\u8457\u5b69\u5b50\u9060\u5f9e\u5b9c\u862d\u5230\u9ad8\u91ab\u6c42\u8a3a\uff0c\u5728\u9ad8\u91ab\u5152\u79d1\u8de8\u5c08\u696d\u5718\u968a\u7167\u8b77\u4e0b\uff0c\u75c5\u7ae5\u63a5\u53d7\u80c3\u9020\u5ed4\u624b\u8853\u3001\u547c\u5438\u8f14\u52a9\u3001\u85e5\u7269\u6cbb\u7642\u8207\u5fa9\u5065\uff0c\u7576\u521d\u9023\u547c\u5438\u90fd\u662f\u5962\u6c42\u7684\u7537\u5b30\u5982\u4eca\u516b\u6b72\u4e86\uff0c\u96d6\u4ecd\u7121\u6cd5\u884c\u8d70\uff0c\u537b\u80fd\u7a69\u5b9a\u5750\u7acb\uff0c\u4e26\u5feb\u6a02\u5730\u5c31\u8b80\u5c0f\u5b78\u4e09\u5e74\u7d1a\u7279\u6559\u73ed\u3002\u7236\u6bcd\u611f\u52d5\u5730\u8aaa\uff1a\u300c\u7576\u521d\u4ee5\u70ba\u5b69\u5b50\u7684\u4e16\u754c\u6703\u505c\u5728\u5b30\u5152\u5e8a\uff0c\u6c92\u60f3\u5230\u4ed6\u73fe\u5728\u80fd\u5750\u8457\u548c\u540c\u5b78\u804a\u5929\u3001\u5b78\u7fd2\u3002\u9ad8\u91ab\u7d66\u7684\u4e0d\u53ea\u662f\u6cbb\u7642\uff0c\u800c\u662f\u8b93\u5168\u5bb6\u4eba\u770b\u5230\u5e0c\u671b\u3002\u300d  \u9ad8\u91ab\u5152\u79d1\u90e8\u4e3b\u4efb\u5f90\u4ef2\u8c6a\u6307\u51fa\uff0cSMA \u75c5\u7ae5\u7684\u6848\u4f8b\u7a81\u986f\u300c\u75c5\u4eba\u5b89\u5168\u300d\u7684\u91cd\u8981\u6027\u3002\u9ad8\u91ab\u5718\u968a\u7d50\u5408\u91ab\u5e2b\u3001\u8b77\u7406\u3001\u85e5\u5e2b\u53ca\u5fa9\u5065\u7b49\u8de8\u5c08\u696d\u5408\u4f5c\uff0c\u9577\u671f\u966a\u4f34\u75c5\u7ae5\u8207\u5bb6\u5ead\u78ba\u4fdd\u7167\u8b77\u5b89\u5168\u8207\u54c1\u8cea\u3002\u9ad8\u91ab\u5152\u79d1\u5718\u968a\u63a8\u52d5\u5404\u75be\u75c5\u5225\u7684\u75c5\u7ae5\u7167\u8b77\u54c1\u8cea\u4e5f\u5c62\u7372\u570b\u5bb6\u7d1a\u734e\u9805\u80af\u5b9a\uff0c\u5305\u62ec\u751f\u7b56\u6703 SNQ \u570b\u5bb6\u54c1\u8cea\u6a19\u7ae0(\u547c\u51fa\u65b0\u5438\u671b\uff1a\u5152\u7ae5\u795e\u7d93\u808c\u8089\u75be\u75c5\u8de8\u9818\u57df\u7167\u8b77\u5353\u8d8a\u5718\u968a)\u3001\u91ab\u7b56\u6703\u570b\u5bb6\u91ab\u7642\u54c1\u8cea\u734e\u2014\u4e3b\u984c\u6539\u5584\u985e\u9285\u734e(\u63d0\u5347\u9ad8\u98a8\u96aa\u5bb6\u5ead\u6536\u6848\u75c5\u7ae5\u8fd4\u5bb6\u7167\u8b77\u5b89\u5168\u9054\u6210\u7387)\u7b49\u7b49\uff0c\u9019\u4e9b\u6210\u679c\u5f70\u986f\u9ad8\u91ab\u7684\u5c08\u696d\u8207\u5275\u65b0\uff0c\u4e5f\u5c55\u73fe\u91ab\u7642\u5718\u968a\u5b88\u8b77\u5152\u7ae5\u5065\u5eb7\u7684\u5805\u5b9a\u6c7a\u5fc3\u3002  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