{"id":136666,"date":"2026-09-08T12:23:00","date_gmt":"2026-09-08T03:23:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136666"},"modified":"2026-09-08T12:23:00","modified_gmt":"2026-09-08T03:23:00","slug":"spinal-muscular-atrophy-smn1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/spinal-muscular-atrophy-smn1\/","title":{"rendered":"\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\uff08SMA\uff09\u306f\u3001\u80cc\u9aa8\u306e\u306a\u304b\u3092\u901a\u308b\u810a\u9ac4\u3067\u3001\u7b4b\u8089\u306b\u300c\u52d5\u3051\u300d\u3068\u3044\u3046\u547d\u4ee4\u3092\u9001\u308b\u795e\u7d4c\u7d30\u80de\uff08\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\uff09\u304c\u6e1b\u3063\u3066\u3044\u304f\u305f\u3081\u306b\u3001\u4f53\u306e\u529b\u304c\u5f31\u304f\u306a\u3063\u3066\u3044\u304f\u75c5\u6c17\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>SMN1<\/strong> 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class=\"wp-block-list\">\n<li><strong>I\u578b\uff08\u91cd\u75c7\u578b\u30fb\u30a6\u30a7\u30eb\u30c9\u30cb\u30c3\u30d2\u30db\u30d5\u30de\u30f3\u75c5\uff09<\/strong>\uff1a\u751f\u5f8c6\u304b\u6708\u307e\u3067\u306b\u767a\u75c7\u3002\u9996\u304c\u3059\u308f\u3089\u306a\u3044\u3001\u5bdd\u8fd4\u308a\u304c\u3067\u304d\u306a\u3044\u3001\u54fa\u4e73\u3084\u547c\u5438\u304c\u5f31\u3044<\/li>\n\n\n\n<li><strong>II\u578b\uff08\u4e2d\u9593\u578b\uff09<\/strong>\uff1a\u304a\u3059\u308f\u308a\u306f\u3067\u304d\u308b\u304c\u3001\u652f\u3048\u306a\u3057\u3067\u7acb\u3066\u306a\u3044\u3002\u5074\u5f2f\u3084\u95a2\u7bc0\u306e\u62d8\u7e2e\u3092\u4f34\u3046<\/li>\n\n\n\n<li><strong>III\u578b\uff08\u8efd\u75c7\u578b\u30fb\u30af\u30fc\u30b2\u30eb\u30d9\u30eb\u30b0\u30fb\u30a6\u30a7\u30e9\u30f3\u30c0\u30fc\u75c5\uff09<\/strong>\uff1a\u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u308b\u304c\u3001\u305d\u306e\u5f8c\u306b\u968e\u6bb5\u3084\u6b69\u884c\u304c\u96e3\u3057\u304f\u306a\u308b<\/li>\n\n\n\n<li><strong>IV\u578b\uff08\u6210\u4eba\u767a\u75c7\u578b\uff09<\/strong>\uff1a\u6210\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u3001\u3086\u3063\u304f\u308a\u3068\u7b4b\u529b\u304c\u4f4e\u4e0b\u3059\u308b<\/li>\n\n\n\n<li>\u5171\u901a\u3057\u3066\u3001\u4f53\u5e79\u3084\u624b\u8db3\u306e\u4ed8\u3051\u6839\u306b\u8fd1\u3044\u7b4b\u8089\u304b\u3089\u5f31\u304f\u306a\u308b\uff0f\u820c\u304c\u3074\u304f\u3074\u304f\u52d5\u304f\uff08\u7dda\u7dad\u675f\u6523\u7e2e\uff09<\/li>\n\n\n\n<li><strong>\u77e5\u80fd\u306f\u4fdd\u305f\u308c\u307e\u3059<\/strong><\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u7b4b\u529b\u306e\u4f4e\u4e0b\u306e\u69d8\u5b50\u304b\u3089\u7591\u3044\u3001<strong>SMN1<\/strong> \u907a\u4f1d\u5b50\u306e\u6b20\u5931\uff08\u591a\u304f\u306f\u7b2c7\u30a8\u30af\u30bd\u30f3\u306e\u6b20\u5931\uff09\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u8a3a\u65ad\u3057\u307e\u3059\u3002\u3042\u308f\u305b\u3066 <strong>SMN2<\/strong> \u306e\u30b3\u30d4\u30fc\u6570\u3092\u6e2c\u308a\u3001\u91cd\u75c7\u5ea6\u306e\u898b\u901a\u3057\u3068\u6cbb\u7642\u306e\u9078\u629e\u306b\u5f79\u7acb\u3066\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30cc\u30b7\u30cd\u30eb\u30bb\u30f3\uff08\u30b9\u30d4\u30f3\u30e9\u30b6\u00ae\uff09<\/strong>\uff1aSMN2\u304b\u3089\u4f5c\u3089\u308c\u308b\u305f\u3093\u3071\u304f\u8cea\u3092\u5897\u3084\u3059\u85ac\u3002\u9ac4\u6db2\u306e\u306a\u304b\u3078\u5b9a\u671f\u7684\u306b\u6ce8\u5c04\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30aa\u30ca\u30bb\u30e0\u30ce\u30b2\u30f3 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class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>SMN1<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>SMN1<\/strong> 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class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>SMA\u306f <strong>SMN1<\/strong>\uff085q13.2\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\uff08\u7d0495%\u306f\u30a8\u30af\u30bd\u30f37\u3092\u542b\u3080\u30db\u30e2\u63a5\u5408\u6027\u6b20\u5931\u3001\u6b8b\u308a\u306f\u6b20\u5931\uff0b\u70b9\u5909\u7570\u306e\u8907\u5408\u30d8\u30c6\u30ed\uff09\u306b\u3088\u308a\u751f\u3058\u308b\u3002\u4fdd\u56e0\u8005\u983b\u5ea6\u306f\u7d041\/50\u3001\u767a\u75c7\u983b\u5ea6\u306f\u7d041\/10,000\u51fa\u751f\u3068\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u75be\u60a3\u306e\u306a\u304b\u3067\u3082\u9ad8\u983b\u5ea6\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u540c\u4e00\u9818\u57df\u306b\u5b58\u5728\u3059\u308b <strong>SMN2<\/strong> \u306f\u3001\u30a8\u30af\u30bd\u30f37\u5185\u306e c.840C>T \u306b\u3088\u308a\u5927\u90e8\u5206\u306e\u8ee2\u5199\u7523\u7269\u3067\u30a8\u30af\u30bd\u30f37\u304c\u30b9\u30ad\u30c3\u30d7\u3055\u308c\u3001\u4e0d\u5b89\u5b9a\u306a SMN\u03947 \u86cb\u767d\u3068\u306a\u308b\u3002\u3057\u304b\u3057\u7d0410%\u306f\u5168\u9577SMN\u3092\u7523\u751f\u3059\u308b\u305f\u3081\u3001<strong>SMN2\u30b3\u30d4\u30fc\u6570\u304c\u8868\u73fe\u578b\u306e\u4e3b\u8981\u306a\u4fee\u98fe\u56e0\u5b50<\/strong>\u3068\u306a\u308b\uff08\u30b3\u30d4\u30fc\u6570\u304c\u591a\u3044\u307b\u3069\u8efd\u75c7\uff09\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f3\u5264\u304c\u56fd\u5185\u627f\u8a8d\u3055\u308c\u3066\u3044\u308b\u3002\u30cc\u30b7\u30cd\u30eb\u30bb\u30f3\uff08\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u30aa\u30ea\u30b4\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u3001\u9ac4\u8154\u5185\u6295\u4e0e\uff09\u3068\u30ea\u30b9\u30b8\u30d7\u30e9\u30e0\uff08\u4f4e\u5206\u5b50\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u4fee\u98fe\u85ac\u3001\u7d4c\u53e3\uff09\u306f\u3044\u305a\u308c\u3082SMN2\u306e\u30a8\u30af\u30bd\u30f37\u30b9\u30ad\u30c3\u30d4\u30f3\u30b0\u3092\u6291\u5236\u3057\u3001\u30aa\u30ca\u30bb\u30e0\u30ce\u30b2\u30f3 \u30a2\u30d9\u30d1\u30eb\u30dc\u30d9\u30af\u306fAAV9\u30d9\u30af\u30bf\u30fc\u306b\u3088\u308bSMN1\u907a\u4f1d\u5b50\u88dc\u5145\u7642\u6cd5\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>NURTURE\u8a66\u9a13\u30fbSPR1NT\u8a66\u9a13\u306b\u3088\u308a\u3001<strong>\u767a\u75c7\u524d\u6295\u4e0e\u3067\u904b\u52d5\u767a\u9054\u304c\u307b\u307c\u6b63\u5e38\u306b\u4fdd\u305f\u308c\u308b<\/strong>\u3053\u3068\u304c\u793a\u3055\u308c\u3001\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u610f\u7fa9\u304c\u78ba\u7acb\u3057\u305f\u3002\u65e5\u672c\u3067\u3082\u81ea\u6cbb\u4f53\u5358\u4f4d\u3067\u306e\u5c0e\u5165\u304c\u9032\u3093\u3067\u3044\u308b\u3002\u3057\u305f\u304c\u3063\u3066\u672c\u75c7\u306f\u3001\u4fdd\u56e0\u8005\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304a\u3088\u3073\u65e9\u671f\u8a3a\u65ad\u306e\u81e8\u5e8a\u7684\u610f\u7fa9\u304c\u304d\u308f\u3081\u3066\u9ad8\u3044\u75be\u60a3\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u306f\u3044\u3002\u73fe\u57283\u7a2e\u985e\u306e\u6cbb\u7642\u85ac\u304c\u56fd\u5185\u3067\u4f7f\u3048\u307e\u3059\uff08\u9ac4\u8154\u5185\u6ce8\u5c04\u30fb\u907a\u4f1d\u5b50\u6cbb\u7642\u30fb\u98f2\u307f\u85ac\uff09\u3002\u3069\u308c\u3092\u9078\u3076\u304b\u306f\u3001\u767a\u75c7\u306e\u6642\u671f\u3084\u5e74\u9f62\u3001\u5168\u8eab\u306e\u72b6\u614b\u306b\u3088\u3063\u3066\u6c7a\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6cbb\u7642\u306f\u3044\u3064\u59cb\u3081\u308b\u306e\u304c\u3088\u3044\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. <strong>\u3067\u304d\u308b\u3060\u3051\u65e9\u304f<\/strong>\u3067\u3059\u3002\u75c7\u72b6\u304c\u51fa\u308b\u524d\u306b\u6cbb\u7642\u3092\u59cb\u3081\u305f\u5834\u5408\u3001\u904b\u52d5\u306e\u767a\u9054\u304c\u307b\u307c\u6b63\u5e38\u306b\u4fdd\u305f\u308c\u305f\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. SMN2\u306e\u30b3\u30d4\u30fc\u6570\u3068\u306f\u4f55\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. <strong>SMN1<\/strong> \u306b\u3088\u304f\u4f3c\u305f\u4e88\u5099\u306e\u907a\u4f1d\u5b50\u3067\u3001\u3053\u306e\u672c\u6570\u304c\u591a\u3044\u307b\u3069\u75c7\u72b6\u304c\u8efd\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u91cd\u75c7\u5ea6\u306e\u898b\u901a\u3057\u3068\u6cbb\u7642\u306e\u9078\u629e\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u77e5\u80fd\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u77e5\u80fd\u306f\u4fdd\u305f\u308c\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u3067\u5f31\u304f\u306a\u308b\u306e\u306f\u7b4b\u8089\u3092\u52d5\u304b\u3059\u795e\u7d4c\u3067\u3001\u8003\u3048\u308b\u529b\u306b\u306f\u5f71\u97ff\u3057\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u4fdd\u56e0\u8005\u306f\u3069\u306e\u304f\u3089\u3044\u3044\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u304a\u3088\u305d50\u4eba\u306b1\u4eba\u3068\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u306e\u75c5\u6c17\u306e\u306a\u304b\u3067\u3082\u9ad8\u3044\u983b\u5ea6\u3067\u3059\u3002\u3054\u592b\u5a66\u306e\u4e21\u65b9\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u30014\u5206\u306e1\u306e\u78ba\u7387\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Lefebvre S, B\u00fcrglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. <em>Cell<\/em>. 1995;80(1):155-165.<\/li>\n\n\n\n<li>Prior TW, Leach ME, Finanger E. Spinal Muscular Atrophy. In: <em>GeneReviews\u00ae<\/em>. University of Washington, Seattle.<\/li>\n\n\n\n<li>Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. <em>N Engl J Med<\/em>. 2017;377(18):1723-1732.<\/li>\n\n\n\n<li>Mendell JR, Al-Zaidy S, Shell R, et al. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. <em>N Engl J Med<\/em>. 2017;377(18):1713-1722.<\/li>\n\n\n\n<li>De Vivo DC, Bertini E, Swoboda KJ, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. <em>Neuromuscul Disord<\/em>. 2019;29(11):842-856.<\/li>\n\n\n\n<li>OMIM #253300 Spinal muscular atrophy, type I<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136666","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136666","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136666\/revisions"}],"predecessor-version":[{"id":137036,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136666\/revisions\/137036"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136666"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}