{"id":17460,"date":"2026-01-22T05:31:03","date_gmt":"2026-01-22T05:31:03","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17460"},"modified":"2026-01-22T05:31:03","modified_gmt":"2026-01-22T05:31:03","slug":"spinal-muscular-atrophy-type-1-sma1","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/spinal-muscular-atrophy-type-1-sma1\/","title":{"rendered":"Spinal muscular atrophy, type 1 (SMA1)"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SMA1<\/strong><\/li>\n\n\n\n<li><strong>\u30a6\u30a7\u30eb\u30c9\u30cb\u30c3\u30d2\u30fb\u30db\u30d5\u30de\u30f3\u75c5\uff08Werdnig-Hoffman disease\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u4e73\u5150\u578b\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7<\/strong><\/li>\n\n\n\n<li><strong>\u91cd\u75c7\u578bSMA<\/strong><\/li>\n\n\n\n<li><strong>5q-SMA<\/strong>\uff085\u756a\u67d3\u8272\u4f53\u95a2\u9023SMA\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>5\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0913.2\u9818\u57df<\/strong><\/p>\n\n\n\n<p>SMA1\u306f\u30015\u756a\u67d3\u8272\u4f53\u4e0a\u306e\u300c5q13.2\u300d\u3068\u3044\u3046\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u8907\u96d1\u306a\u69cb\u9020\u3011<\/p>\n\n\n\n<p>5q13.2\u9818\u57df\u306f\u3001\u30b2\u30ce\u30e0\u69cb\u9020\u304c\u975e\u5e38\u306b\u8907\u96d1\u3067\u3001\u9006\u5411\u304d\u306e\u91cd\u8907\u914d\u5217\uff08inverted repeat\uff09\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u4ee5\u4e0b\u306e2\u3064\u306e\u6975\u3081\u3066\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SMN1\u907a\u4f1d\u5b50 (Survival Motor Neuron 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\uff08\u795e\u7d4c\u7d30\u80de\uff09\u306e\u751f\u5b58\u306b\u4e0d\u53ef\u6b20\u306a\u300cSMN\u30bf\u30f3\u30d1\u30af\u8cea\u300d\u3092\u4f5c\u308b\u305f\u3081\u306e\u30e1\u30a4\u30f3\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/li>\n\n\n\n<li>SMA\u60a3\u8005\u3067\u306f\u3001\u3053\u306e<em>SMN1<\/em>\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3001\u3042\u308b\u3044\u306f\u5909\u7570\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u307b\u3068\u3093\u3069\u4f5c\u3089\u308c\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SMN2\u907a\u4f1d\u5b50 (Survival Motor Neuron 2):<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>SMN1<\/em>\u306e\u300c\u30d0\u30c3\u30af\u30a2\u30c3\u30d7\u300d\u306e\u3088\u3046\u306a\u907a\u4f1d\u5b50\u3067\u3059\u304c\u3001\u8a2d\u8a08\u56f3\u306b\u308f\u305a\u304b\u306a\u9055\u3044\uff08\u4e00\u5869\u57fa\u7f6e\u63db\uff09\u304c\u3042\u308b\u305f\u3081\u3001\u6b63\u5e38\u306b\u6a5f\u80fd\u3059\u308bSMN\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u5168\u4f53\u306e\u7d0410%\u7a0b\u5ea6\u3057\u304b\u4f5c\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>SMA1\uff08I\u578b\uff09\u306e\u60a3\u8005\u69d8\u3067\u306f\u3001\u3053\u306e<\/strong><strong><em>SMN2<\/em><\/strong><strong>\u306e\u30b3\u30d4\u30fc\u6570\u304c\u901a\u5e382\u30b3\u30d4\u30fc\u3068\u5c11\u306a\u304f\u3001\u30d0\u30c3\u30af\u30a2\u30c3\u30d7\u6a5f\u80fd\u304c\u4e0d\u5341\u5206\u3067\u3042\u308b\u305f\u3081\u3001\u91cd\u75c7\u5316\u3057\u307e\u3059\u3002<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u51fa\u751f\u5150 10,000\u4eba \u301c 20,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u4f53\u50cf:<\/strong> SMA\u5168\u4f53\u306e\u4e2d\u3067\u306f\u3001\u3053\u306eI\u578b\uff08SMA1\uff09\u304c\u6700\u3082\u591a\u304f\u3001\u5168\u4f53\u306e\u7d0450\u301c60%\u3092\u5360\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4fdd\u56e0\u8005\u983b\u5ea6:<\/strong> \u7d0440\u4eba\u301c60\u4eba\u306b1\u4eba\u304c\u3001SMA\u306e\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u5909\u7570\u3092\u7247\u65b9\u306e\u67d3\u8272\u4f53\u306b\u6301\u3063\u3066\u3044\u308b\u300c\u4fdd\u56e0\u8005\uff08\u30ad\u30e3\u30ea\u30a2\uff09\u300d\u3067\u3042\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65e5\u672c\u56fd\u5185:<\/strong> \u65e5\u672c\u56fd\u5185\u306e\u767a\u751f\u983b\u5ea6\u3082\u6b27\u7c73\u3068\u307b\u307c\u540c\u69d8\u3067\u3042\u308a\u3001\u5e74\u9593\u7d04100\u4eba\u7a0b\u5ea6\u306e\u65b0\u3057\u3044\u60a3\u8005\u69d8\u304c\u751f\u307e\u308c\u3066\u3044\u308b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>SMA1\u306f\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u751f\u5f8c6\u30f6\u6708\u307e\u3067\u306b\u767a\u75c7\u3059\u308b\u6700\u91cd\u75c7\u578b\u3067\u3059\u3002\u300c\u904b\u52d5\u767a\u9054\u306e\u505c\u6b62\u300d\u3068\u300c\u5168\u8eab\u306e\u9032\u884c\u6027\u7b4b\u840e\u7e2e\u300d\u304c\u4e3b\u5fb4\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u904b\u52d5\u6a5f\u80fd\u306e\u4f4e\u4e0b<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8:<\/strong> \u300c\u3050\u306b\u3083\u3050\u306b\u3083\u3057\u305f\u8d64\u3061\u3083\u3093\u300d\u3068\u547c\u3070\u308c\u3001\u62b1\u304d\u4e0a\u3052\u305f\u6642\u306b\u4f53\u304c\u975e\u5e38\u306b\u67d4\u3089\u304b\u304f\u3001\u9996\u304c\u3059\u308f\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u306e\u672a\u5230\u9054:<\/strong> \u81ea\u529b\u3067\u5bdd\u8fd4\u308a\u3092\u6253\u3064\u3053\u3068\u3084\u3001\u652f\u3048\u306a\u3057\u3067\u5ea7\u308b\uff08\u72ec\u6b69\u30fb\u72ec\u5750\uff09\u3053\u3068\u304c\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u30ab\u30a8\u30eb\u69d8\u80a2\u4f4d:<\/strong> \u4ef0\u5411\u3051\u306b\u5bdd\u304b\u305b\u308b\u3068\u3001\u8db3\u306e\u529b\u304c\u5f31\u3044\u305f\u3081\u3001\u30ab\u30a8\u30eb\u306e\u8db3\u306e\u3088\u3046\u306b\u80a1\u95a2\u7bc0\u3092\u5916\u5074\u306b\u958b\u3044\u305f\u72b6\u614b\u3067\u5e73\u3079\u3063\u305f\u304f\u5bdd\u308b\u59ff\u52e2\u3092\u3068\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u547c\u5438\u5668\u7cfb\u306e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9418\u72b6\u80f8\uff08\u30d9\u30eb\u578b\u80f8\u90ed\uff09:<\/strong> \u808b\u9593\u7b4b\u304c\u840e\u7e2e\u3059\u308b\u4e00\u65b9\u3067\u3001\u6a2a\u9694\u819c\u306b\u3088\u308b\u8179\u5f0f\u547c\u5438\u306f\u4fdd\u305f\u308c\u308b\u305f\u3081\u3001\u80f8\u304c\u3078\u3053\u307f\u3001\u304a\u8179\u304c\u81a8\u3089\u3080\u72ec\u7279\u306e\u547c\u5438\u69d8\u5f0f\uff08\u30b7\u30fc\u30bd\u30fc\u547c\u5438\uff09\u3068\u306a\u308a\u3001\u80f8\u90ed\u304c\u30d9\u30eb\u306e\u3088\u3046\u306a\u5f62\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u547c\u5438\u4e0d\u5168:<\/strong> \u54b3\u3092\u3059\u308b\u529b\u304c\u5f31\u3044\u305f\u3081\u3001\u75f0\u3092\u51fa\u3059\u3053\u3068\u304c\u3067\u304d\u305a\u3001\u80ba\u708e\u3092\u7e70\u308a\u8fd4\u3057\u307e\u3059\u3002\u3053\u308c\u304c\u304b\u3064\u3066\u306e\u4e3b\u306a\u6b7b\u56e0\u3067\u3057\u305f\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6442\u98df\u30fb\u56a5\u4e0b\u969c\u5bb3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u54fa\u4e73\u56f0\u96e3:<\/strong> \u98f2\u307f\u8fbc\u3080\u529b\u304c\u5f31\u3044\u305f\u3081\u3001\u30df\u30eb\u30af\u3092\u98f2\u3080\u306e\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u3001\u3042\u308b\u3044\u306f\u8aa4\u56a5\uff08\u3080\u305b\u308b\uff09\u3092\u8d77\u3053\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u820c\u306e\u7dda\u7dad\u675f\u6027\u53ce\u7e2e:<\/strong> \u820c\u304c\u7d30\u304b\u304f\u30d4\u30af\u30d4\u30af\u3068\u9707\u3048\u308b\u73fe\u8c61\u304c\u898b\u3089\u308c\u307e\u3059\uff08\u8133\u795e\u7d4c\u306e\u5909\u6027\u3092\u793a\u5506\u3059\u308b\u5fb4\u5019\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u77e5\u80fd\u3068\u611f\u899a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u80fd\u306f\u6b63\u5e38:<\/strong> SMA\u306f\u904b\u52d5\u795e\u7d4c\u306e\u307f\u306e\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u77e5\u80fd\u3084\u611f\u53d7\u6027\u306f\u5b8c\u5168\u306b\u4fdd\u305f\u308c\u3066\u3044\u307e\u3059\u3002\u975e\u5e38\u306b\u8868\u60c5\u8c4a\u304b\u3067\u3001\u8061\u660e\u306a\u77b3\u3092\u6301\u3064\u304a\u5b50\u69d8\u304c\u591a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u611f\u899a\u795e\u7d4c\u306e\u4fdd\u6301:<\/strong> \u75db\u307f\u3084\u89e6\u308c\u3089\u308c\u305f\u611f\u899a\u306a\u3069\u306f\u6b63\u5e38\u306b\u4fdd\u305f\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong><em>SMN1<\/em><\/strong><strong>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u30fb\u5909\u7570\u306b\u3088\u308bSMN\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u4e0d\u8db3\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5f62\u5f0f:<\/strong><strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d<\/strong> \u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u4e21\u89aa\u304c\u3068\u3082\u306b\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u300125%\u306e\u78ba\u7387\u3067\u304a\u5b50\u69d8\u304c\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>SMN1<\/em>\u907a\u4f1d\u5b50\u304c\u306a\u3044\u305f\u3081\u306b\u3001\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u3092\u7dad\u6301\u3059\u308b\u305f\u3081\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u4f5c\u3089\u308c\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u304c\u6b7b\u6ec5\u3059\u308b\u3068\u3001\u8133\u304b\u3089\u306e\u6307\u4ee4\u304c\u7b4b\u8089\u306b\u4f1d\u308f\u3089\u306a\u304f\u306a\u308a\u3001\u4f7f\u308f\u308c\u306a\u3044\u7b4b\u8089\u304c\u307f\u308b\u307f\u308b\u3046\u3061\u306b\u75e9\u305b\u7d30\u3063\u3066\uff08\u840e\u7e2e\u3057\u3066\uff09\u3044\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SMN2\u30b3\u30d4\u30fc\u6570\u306e\u5f71\u97ff:<\/strong>\n<ul class=\"wp-block-list\">\n<li>SMA\u306e\u91cd\u75c7\u5ea6\u306f\u3001\u30d0\u30c3\u30af\u30a2\u30c3\u30d7\u907a\u4f1d\u5b50\u3067\u3042\u308b<em>SMN2<\/em>\u306e\u6570\u306b\u4f9d\u5b58\u3057\u307e\u3059\u3002<strong>SMA1\u306e\u591a\u304f\u306f<\/strong><strong><em>SMN2<\/em><\/strong><strong>\u304c2\u30b3\u30d4\u30fc<\/strong>\u3067\u3042\u308a\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u4f9b\u7d66\u304c\u6975\u3081\u3066\u4f4e\u3044\u305f\u3081\u3001\u65e9\u671f\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>2010\u5e74\u4ee3\u5f8c\u534a\u304b\u3089\u3001SMA\u306e\u6cbb\u7642\u306f\u300c\u4e0d\u6cbb\u306e\u75c5\u300d\u304b\u3089\u300c\u6cbb\u7642\u53ef\u80fd\u306a\u75be\u60a3\u300d\u3078\u3068\u5287\u7684\u306b\u5909\u5316\u3057\u307e\u3057\u305f\u3002\u73fe\u5728\u306f\u4ee5\u4e0b\u306e3\u3064\u306e\u4e3b\u8981\u306a\u6cbb\u7642\u85ac\u304c\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u907a\u4f1d\u5b50\u6cbb\u7642\u85ac\uff1a\u30aa\u30ca\u30bb\u30e0\u30ce\u30b2\u30f3 \u30a2\u30d9\u30d1\u30eb\u30dc\u30d9\u30af\uff08\u30be\u30eb\u30b2\u30f3\u30b9\u30de\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4ed5\u7d44\u307f:<\/strong> \u30a6\u30a4\u30eb\u30b9\u30d9\u30af\u30bf\u30fc\uff08\u7121\u5bb3\u5316\u3057\u305f\u30a6\u30a4\u30eb\u30b9\uff09\u3092\u7528\u3044\u3066\u3001\u6b63\u5e38\u306a<em>SMN1<\/em>\u907a\u4f1d\u5b50\u3092\u76f4\u63a5\u7d30\u80de\u5185\u306b\u5c0e\u5165\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6295\u4e0e:<\/strong> \u751f\u6daf\u306b\u4e00\u5ea6\u3060\u3051\u306e\u70b9\u6ef4\u9759\u6ce8\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u52b9\u679c:<\/strong> \u65e9\u671f\u306b\u6295\u4e0e\u3059\u308b\u307b\u3069\u3001\u5287\u7684\u306a\u904b\u52d5\u6a5f\u80fd\u306e\u6539\u5584\u304c\u898b\u8fbc\u307e\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6838\u9178\u533b\u85ac\uff1a\u30cc\u30b7\u30cd\u30eb\u30bb\u30f3\uff08\u30b9\u30d4\u30f3\u30e9\u30b6\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4ed5\u7d44\u307f:<\/strong> \u30d0\u30c3\u30af\u30a2\u30c3\u30d7\u907a\u4f1d\u5b50\u3067\u3042\u308b<em>SMN2<\/em>\u304b\u3089\u3001\u6b63\u5e38\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u591a\u304f\u4f5c\u3089\u308c\u308b\u3088\u3046\u306b\u66f8\u304d\u63db\u3048\uff08\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u8abf\u7bc0\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6295\u4e0e:<\/strong> \u9ac4\u6ce8\uff08\u8170\u690e\u7a7f\u523a\u306b\u3088\u308a\u9ac4\u6db2\u306b\u76f4\u63a5\u6295\u4e0e\uff09\u3092\u5b9a\u671f\u7684\u306b\u7d99\u7d9a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7d4c\u53e3\u85ac\uff1a\u30ea\u30b9\u30b8\u30d7\u30e9\u30e0\uff08\u30a8\u30d6\u30ea\u30b9\u30c7\u30a3\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4ed5\u7d44\u307f:<\/strong> \u30cc\u30b7\u30cd\u30eb\u30bb\u30f3\u3068\u540c\u69d8\u306b<em>SMN2<\/em>\u306b\u50cd\u304d\u304b\u3051\u307e\u3059\u304c\u3001\u5168\u8eab\u306b\u884c\u304d\u6e21\u308b\u98f2\u307f\u85ac\uff08\u6563\u5264\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6295\u4e0e:<\/strong> \u6bce\u65e5\u81ea\u5b85\u3067\u670d\u7528\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u591a\u8077\u7a2e\u306b\u3088\u308b\u5305\u62ec\u7684\u30b1\u30a2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u547c\u5438\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3:<\/strong> \u6392\u75f0\u88dc\u52a9\u88c5\u7f6e\uff08\u30ab\u30d5\u30a2\u30b7\u30b9\u30c8\uff09\u3084\u975e\u4fb5\u8972\u7684\u967d\u5727\u63db\u6c17\uff08NPPV\uff09\u306e\u4f7f\u7528\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7ba1\u7406:<\/strong> \u7d4c\u7ba1\u6804\u990a\u3084\u80c3\u763b\u306b\u3088\u308b\u6804\u990a\u30b5\u30dd\u30fc\u30c8\u3002<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\u7684\u4ecb\u5165:<\/strong> \u95a2\u7bc0\u306e\u62d8\u7e2e\uff08\u56fa\u307e\u308b\u3053\u3068\uff09\u3092\u9632\u3050\u305f\u3081\u306e\u30ea\u30cf\u30d3\u30ea\u3084\u88c5\u5177\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6cbb\u7642\u3092\u884c\u308f\u306a\u3044\u5834\u5408:<\/strong> \u4ee5\u524d\u306f\u3001\u751f\u5f8c2\u6b73\u307e\u3067\u306b\u4eba\u5de5\u547c\u5438\u5668\u304c\u5fc5\u8981\u306b\u306a\u308b\u304b\u3001\u6b7b\u306b\u81f3\u308b\u30b1\u30fc\u30b9\u304c90%\u4ee5\u4e0a\u3067\u3057\u305f\u3002<\/li>\n\n\n\n<li><strong>\u73fe\u5728\u306e\u4e88\u5f8c:<\/strong> **\u300c\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u6cbb\u7642\u300d**\u304c\u3059\u3079\u3066\u3092\u5de6\u53f3\u3057\u307e\u3059\u3002\u767a\u75c7\u524d\u3001\u3042\u308b\u3044\u306f\u767a\u75c7\u76f4\u5f8c\u306b\u6cbb\u7642\u3092\u958b\u59cb\u3057\u305f\u304a\u5b50\u69d8\u306e\u4e2d\u306b\u306f\u3001\u72ec\u6b69\uff08\u4e00\u4eba\u6b69\u304d\uff09\u304c\u53ef\u80fd\u306b\u306a\u3063\u305f\u308a\u3001\u901a\u5e38\u306e\u5b66\u6821\u751f\u6d3b\u3092\u9001\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u308a\u3059\u308b\u4f8b\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u91cd\u8981\uff1a\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u610f\u7fa9<\/strong><\/h2>\n\n\n\n<p>SMA1\u306b\u304a\u3044\u3066\u6700\u3082\u91cd\u8981\u306a\u306e\u306f\u3001**\u300c\u75c7\u72b6\u304c\u51fa\u308b\u524d\u306b\u6cbb\u7642\u3092\u59cb\u3081\u308b\u3053\u3068\u300d**\u3067\u3059\u3002\u4e00\u5ea6\u6b7b\u6ec5\u3057\u305f\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u306f\u518d\u751f\u3057\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u73fe\u5728\u65e5\u672c\u5404\u5730\u3067\u81ea\u6cbb\u4f53\u306b\u3088\u308b\u300c\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08\u751f\u5f8c\u3059\u3050\u306e\u8840\u6db2\u691c\u67fb\uff09\u300d\u3078\u306eSMA\u8ffd\u52a0\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u767a\u75c7\u524d\u306b\u8a3a\u65ad\u3057\u3001\u5373\u5ea7\u306b\u6cbb\u7642\u3092\u958b\u59cb\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Spinal muscular atrophy, type 1 (SMA1\uff1a\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7 I\u578b) \u306f\u3001\u7b4b\u8089\u3092\u52d5\u304b\u3059\u795e\u7d4c\u304c\u3046\u307e\u304f\u50cd\u304b\u305a\u3001\u5168\u8eab\u306e\u7b4b\u529b\u304c\u4f4e\u4e0b\u3057\u3066\u3044\u304f\u91cd\u3044\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u304b\u3064\u3066\u306f\u975e\u5e38\u306b\u53b3\u3057\u3044\u4e88\u5f8c\u304c\u8a9e\u3089\u308c\u3066\u304d\u305f\u75be\u60a3\u3067\u3059\u304c\u3001\u4eca\u3001\u305d\u306e\u6b74\u53f2\u306f\u5927\u304d\u304f\u5857\u308a\u66ff\u3048\u3089\u308c\u3088\u3046\u3068\u3057\u3066\u3044\u307e\u3059\u3002\u9769\u65b0\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u65b0\u3057\u3044\u304a\u85ac\u306e\u767b\u5834\u306b\u3088\u308a\u3001\u65e9\u671f\u306b\u6cbb\u7642\u3092\u958b\u59cb\u3059\u308c\u3070\u3001\u304a\u5b50\u69d8\u304c\u5ea7\u308a\u3001\u7acb\u3061\u3001\u6b69\u304f\u3068\u3044\u3046\u672a\u6765\u304c\u73fe\u5b9f\u306e\u3082\u306e\u3068\u306a\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u65e9\u671f\u767a\u898b\u300d\u3053\u305d\u304c\u304a\u5b50\u69d8\u306e\u672a\u6765\u3092\u5b88\u308b\u9375\u3067\u3059\u3002\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3001\u3042\u308b\u3044\u306f\u6388\u4e73\u3084\u52d5\u304d\u306b\u4e0d\u5b89\u3092\u611f\u3058\u3066\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u306f\u3001\u975e\u5e38\u306b\u5927\u304d\u306a\u4e0d\u5b89\u306e\u4e2d\u306b\u3044\u3089\u3063\u3057\u3083\u308b\u3053\u3068\u3067\u3057\u3087\u3046\u3002\u3057\u304b\u3057\u3001\u4eca\u306e\u533b\u7642\u306b\u306f\u3001\u304a\u5b50\u69d8\u306e\u751f\u304d\u308b\u529b\u3092\u5f15\u304d\u51fa\u3059\u5f37\u529b\u306a\u6b66\u5668\u304c\u3042\u308a\u307e\u3059\u3002\u5c02\u9580\u533b\u3001\u30ea\u30cf\u30d3\u30ea\u30b9\u30bf\u30c3\u30d5\u3001\u5730\u57df\u793e\u4f1a\u3068\u624b\u3092\u53d6\u308a\u5408\u3044\u3001\u6700\u65b0\u306e\u6cbb\u7642\u3068\u30b1\u30a2\u3092\u5c4a\u3051\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002\u304a\u5b50\u69d8\u306e\u77b3\u306b\u6620\u308b\u8f1d\u304d\u3092\u3001\u793e\u4f1a\u5168\u4f53\u3067\u652f\u3048\u3066\u3044\u304f\u6642\u4ee3\u304c\u6765\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Werdnig, G.<\/strong> (1891). <em>Two early infantile hereditary cases of progressive muscular atrophy.<\/em> Archiv f\u00fcr Psychiatrie und Nervenkrankheiten.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30a6\u30a7\u30eb\u30c9\u30cb\u30c3\u30d2\u306b\u3088\u308b\u6700\u521d\u306e\u75c7\u4f8b\u5831\u544a\u3002SMA1\u306e\u6b74\u53f2\u7684\u57fa\u790e\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lefebvre, S., et al.<\/strong> (1995). <em>Identification and characterization of a spinal muscular atrophy-determining gene.<\/em> Cell.\n<ul class=\"wp-block-list\">\n<li>\uff08SMN1\u907a\u4f1d\u5b50\u306e\u540c\u5b9a\u3002SMA\u306e\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u89e3\u660e\u3057\u305f\u6975\u3081\u3066\u91cd\u8981\u306a\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Finkel, R. S., et al.<\/strong> (2017). <em>Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.<\/em> New England Journal of Medicine (NEJM).\n<ul class=\"wp-block-list\">\n<li>\uff08\u30cc\u30b7\u30cd\u30eb\u30bb\u30f3\u306e\u6709\u52b9\u6027\u3092\u8a3c\u660e\u3057\u305f\u5927\u898f\u6a21\u81e8\u5e8a\u8a66\u9a13\u306e\u7d50\u679c\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Mendell, J. R., et al.<\/strong> (2017). <em>Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy.<\/em> New England Journal of Medicine (NEJM).\n<ul class=\"wp-block-list\">\n<li>\uff08\u30be\u30eb\u30b2\u30f3\u30b9\u30de\u306b\u3088\u308b\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u5287\u7684\u306a\u52b9\u679c\u3092\u5831\u544a\u3057\u305f\u9769\u65b0\u7684\u306a\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Spinal Muscular Atrophy<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u8a3a\u65ad\u30fb\u7ba1\u7406\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u4e16\u754c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Cure SMA (International Support Group)<\/strong>: <em>Comprehensive Guide to Spinal Muscular Atrophy Type 1<\/em>.<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17460","genetic-screening","type-genetic-screening","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17460","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17460\/revisions"}],"predecessor-version":[{"id":17461,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17460\/revisions\/17461"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17460"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}