{"id":1161,"date":"2014-04-07T16:15:07","date_gmt":"2014-04-07T07:15:07","guid":{"rendered":"https:\/\/wakayama-shogai.com\/?page_id=1161"},"modified":"2014-04-07T16:15:07","modified_gmt":"2014-04-07T07:15:07","slug":"1161-2","status":"publish","type":"page","link":"https:\/\/wakayama-shogai.com\/?page_id=1161","title":{"rendered":"\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\u306b\u3064\u3044\u3066"},"content":{"rendered":"\n<h3 class=\"wp-block-heading\">1. \u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\u3068\u306f<\/h3>\n\n\n\n<p>\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7(spinal muscular atrophy: SMA)\u3068\u306f\u3001\u810a\u9ac4\u306e\u904b\u52d5\u795e\u7d4c\u7d30\u80de(\u810a\u9ac4\u524d\u89d2\u7d30\u80de)\u306e\u75c5\u5909\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u795e\u7d4c\u539f\u6027\u306e\u7b4b\u840e\u7e2e\u75c7\u3067\u3001\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7(ALS)\u3068\u540c\u3058\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u75c5\u306e\u7bc4\u7587\u306b\u5165\u308b\u75c5\u6c17\u3067\u3059\u3002\u4f53\u5e79\u3084\u56db\u80a2\u306e\u7b4b\u529b\u4f4e\u4e0b\u3001\u7b4b\u840e\u7e2e\u3092\u9032\u884c\u6027\u306b\u793a\u3057\u307e\u3059\u3002\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u2160\u578b\uff1a\u91cd\u75c7\u578b\uff08\u5225\u540d\uff1a\u30a6\u30a7\u30eb\u30c9\u30cb\u30c3\u30d2\u30fb\u30db\u30d5\u30de\u30f3Werdnig-Hoffmann\u75c5\uff09\u3001\u2161\u578b\uff1a\u4e2d\u9593\u578b\uff08\u5225\u540d\uff1a\u30c7\u30e5\u30dc\u30d3\u30c3\u30c4Dubowitz\u75c5\uff09\u3001\u2162\u578b\uff1a\u8efd\u75c7\u578b\uff08\u5225\u540d\uff1a\u30af\u30fc\u30b2\u30eb\u30d9\u30eb\u30b0\u30fb\u30a6\u30a7\u30e9\u30f3\u30c0\u30fcKugelberg-Welander\u75c5\uff09\u3068\u3001\u6210\u4eba\u671f\u306b\u767a\u75c7\u3059\u308b\u2163\u578b\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u4e3b\u306b\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3059\u308bSMA\u306f\u7b2c\uff15\u67d3\u8272\u4f53\u306b\u75c5\u56e0\u907a\u4f1d\u5b50\u3092\u6301\u3064\u52a3\u6027\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u304c\u3001\u6210\u4eba\u767a\u75c7\u306eSMA 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protein:\u7565\u3057\u3066NAIP)\u907a\u4f1d\u5b50\u306f\u4fee\u98fe\u907a\u4f1d\u5b50\u3067\u3059\u3002SMN\u907a\u4f1d\u5b50\u306e\u8fd1\u304f\u306b\u306f\u3001SMN\u907a\u4f1d\u5b50\u3068\u306f5\u5869\u57fa\u5bfe\u306e\u307f\u304c\u7570\u306a\u3063\u3066\u3044\u308b\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3057\u3066\u3044\u307e\u3059\u3002SMN\u907a\u4f1d\u5b50\u306e\u3053\u3068\u3092SMN1\u907a\u4f1d\u5b50\u3068\u304b\u3001\u30c6\u30ed\u30e1\u30a2\u5074\u306b\u3042\u308b\u306e\u3067SMNt\u907a\u4f1d\u5b50\u3068\u3001\u8fd1\u508d\u306e\u907a\u4f1d\u5b50\u3092SMN2\u907a\u4f1d\u5b50\u307e\u305f\u306fSMNc\u907a\u4f1d\u5b50\u3068\u540d\u3065\u3051\u3089\u308c\u3066\u3044\u307e\u3059\u3002SMN\u86cb\u767d\u306f\u7d30\u80de\u306e\u6838\u306b\u5b58\u5728\u3057\u3001RNA\u7d50\u5408\u86cb\u767d\u3068\u53cd\u5fdc\u3059\u308b\u3082\u306e\u3067\u3042\u308a\u307e\u3059\u3002NAIP\u306f\u6606\u866b\u7d30\u80de\u306e\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\u3092\u6291\u5236\u3059\u308b\u86cb\u767d\u8cea\u3068\u69cb\u9020\u304c\u4f3c\u3066\u3044\u308b\u305f\u3081\u3001\u795e\u7d4c\u7d30\u80de\u306e\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\u3092\u6291\u5236\u3059\u308b\u86cb\u767d\u8cea\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u2160\u3001\u2161\u578b\u306e95%\u306bSMN\u907a\u4f1d\u5b50\u6b20\u5931\u304c\u8a8d\u3081\u3089\u308c\u3001\u2162\u578b\u306e\u7d04\u534a\u6570\u3001\u2163\u578b\u306e1\uff5e2\u5272\u306b\u304a\u3044\u3066SMN\u907a\u4f1d\u5b50\u5909\u7570\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 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