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class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n<p><strong>\u53cd\u5fa9\u795e\u7d4c\u523a\u6fc0\u8a66\u9a13<\/strong>\u3067\u3001\u7e70\u308a\u8fd4\u3057\u523a\u6fc0\u3057\u305f\u3068\u304d\u306b\u53cd\u5fdc\u304c\u3060\u3093\u3060\u3093\u5c0f\u3055\u304f\u306a\u308b\u73fe\u8c61\uff08waning\uff09\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u5358\u7dda\u7dad\u7b4b\u96fb\u56f3\u3001\u8840\u6e05\u306e\u6297\u30a2\u30bb\u30c1\u30eb\u30b3\u30ea\u30f3\u53d7\u5bb9\u4f53\u6297\u4f53\u30fb\u6297MuSK\u6297\u4f53\uff08<strong>\u5148\u5929\u6027\u3067\u306f\u9670\u6027<\/strong>\uff09\u3001\u7b4b\u751f\u691c\uff08\u578b\u306b\u3088\u308a\u7ba1\u72b6\u51dd\u96c6\u4f53\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa414\u578b\u3067\u306f <strong>ALG2<\/strong> 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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<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>ALG2<\/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<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<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>ALG2<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<h3 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<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<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<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p>\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4\uff08CMS\uff09\u306f<strong>\u795e\u7d4c\u7b4b\u63a5\u5408\u90e8\u306e\u69cb\u6210\u5206\u5b50\u306e\u907a\u4f1d\u7684\u7570\u5e38<\/strong>\u306b\u3088\u308b\u75be\u60a3\u7fa4\u3067\u3001\u969c\u5bb3\u90e8\u4f4d\u306b\u3088\u308a<strong>\u2460\u30b7\u30ca\u30d7\u30b9\u524d\u6027\uff08<em>CHAT<\/em>\u3001<em>SLC5A7<\/em>\u3001<em>SLC18A3<\/em>\u3001<em>SYT2<\/em>\uff09\u3001\u2461\u30b7\u30ca\u30d7\u30b9\u57fa\u5e95\u819c\uff08<em>COLQ<\/em>\u3001<em>LAMB2<\/em>\u3001<em>COL13A1<\/em>\uff09\u3001\u2462\u30b7\u30ca\u30d7\u30b9\u5f8c\u6027\uff08<em>CHRNE<\/em> \u307b\u304bAChR\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3001<em>RAPSN<\/em>\u3001<em>DOK7<\/em>\u3001<em>MUSK<\/em>\u3001<em>AGRN<\/em>\uff09\u3001\u2463\u7cd6\u9396\u4fee\u98fe\uff08<em>GFPT1<\/em>\u3001<em>DPAGT1<\/em>\u3001<em>ALG2<\/em>\u3001<em>ALG14<\/em>\uff09\u3001\u2464\u305d\u306e\u4ed6\uff08<em>PREPL<\/em>\u3001<em>SCN4A<\/em>\u3001<em>MYO9A<\/em>\uff09<\/strong>\u306b\u5206\u985e\u3055\u308c\u308b\u3002<strong>\u983b\u5ea6\u304c\u6700\u3082\u9ad8\u3044\u306e\u306f<em>CHRNE<\/em>\uff08AChR \u03b5\u9396\uff09\u6b20\u640d<\/strong>\u3067\u3042\u308b\u3002<\/p>\n\n\n<p><strong>ALG2<\/strong>\uff089q31.1\uff09\u306f\u03b1-1,3\/1,6-\u30de\u30f3\u30ce\u30fc\u30b9\u8ee2\u79fb\u9175\u7d20\u3067\u3001N\u578b\u7cd6\u9396\u306e\u8102\u8cea\u7d50\u5408\u524d\u99c6\u4f53\uff08LLO\uff09\u306e\u4f38\u9577\u3092\u62c5\u3046\u3002<em>DPAGT1<\/em>\u30fb<em>ALG14<\/em> \u3068\u3068\u3082\u306b<strong>\u300c\u7cd6\u9396\u5408\u6210\u7570\u5e38\u306b\u3088\u308bCMS\u300d\u3068\u3044\u3046\u30b5\u30d6\u30b0\u30eb\u30fc\u30d7<\/strong>\u3092\u5f62\u6210\u3059\u308b\u3002<strong>\u3053\u308c\u3089\u306e\u578b\u3067\u306f\u773c\u77bc\u4e0b\u5782\u30fb\u773c\u7403\u904b\u52d5\u969c\u5bb3\u3092\u6b20\u304f\u3053\u3068\u304c\u591a\u304f\u3001\u53e4\u5178\u7684\u306aCMS\u306e\u30a4\u30e1\u30fc\u30b8\u3068\u5408\u81f4\u3057\u306a\u3044<\/strong>\u305f\u3081\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u3002\u91cd\u75c7\u4f8b\u306f\u5148\u5929\u6027\u7cd6\u9396\u7570\u5e38\u75c7\uff08CDG-Ii\uff09\u3068\u3057\u3066\u7b4b\u7121\u529b\u306b\u52a0\u3048\u591a\u81d3\u5668\u75c7\u72b6\u3092\u5448\u3059\u308b\u3002\u8840\u6e05\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u7b49\u96fb\u70b9\u96fb\u6c17\u6cf3\u52d5\u304c\u7570\u5e38\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u3001\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\u3057\u3066\u6709\u7528\u306a\u5834\u5408\u304c\u3042\u308b\u3002<\/p>\n\n\n<p><strong>\u6cbb\u7642\u4e0a\u306e\u6700\u91cd\u8981\u4e8b\u9805\u306f\u3001\u30b3\u30ea\u30f3\u30a8\u30b9\u30c6\u30e9\u30fc\u30bc\u963b\u5bb3\u85ac\u304c\u7981\u5fcc\u3068\u306a\u308b\u578b\u3092\u898b\u5206\u3051\u308b\u3053\u3068<\/strong>\u3067\u3042\u308b\u3002<strong><em>COLQ<\/em>\uff08\u7d42\u677f\u30a2\u30bb\u30c1\u30eb\u30b3\u30ea\u30f3\u30a8\u30b9\u30c6\u30e9\u30fc\u30bc\u6b20\u640d\uff09\u3001<em>DOK7<\/em>\u3001\u304a\u3088\u3073\u30b9\u30ed\u30fc\u30c1\u30e3\u30cd\u30eb\u75c7\u5019\u7fa4\uff08AChR\u306e\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\uff09<\/strong>\u3067\u306f\u3001\u30a2\u30bb\u30c1\u30eb\u30b3\u30ea\u30f3\u306e\u4f5c\u7528\u5ef6\u9577\u304c<strong>\u7d42\u677f\u306e\u8131\u5206\u6975\u9077\u5ef6\u3068\u30ab\u30eb\u30b7\u30a6\u30e0\u904e\u8ca0\u8377\u306b\u3088\u308b\u7d42\u677f\u30df\u30aa\u30d1\u30c1\u30fc<\/strong>\u3092\u60aa\u5316\u3055\u305b\u308b\u3002\u3053\u308c\u3089\u3067\u306f<strong>\u30b5\u30eb\u30d6\u30bf\u30e2\u30fc\u30eb\u3084\u30a8\u30d5\u30a7\u30c9\u30ea\u30f3\u304c\u7b2c\u4e00\u9078\u629e<\/strong>\u3068\u306a\u308b\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u91cd\u75c7\u7b4b\u7121\u529b\u75c7\uff08\u81ea\u5df1\u514d\u75ab\u6027\uff09\u3001\u4e73\u5150\u30dc\u30c4\u30ea\u30cc\u30b9\u75c7\u3001\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\u3001\u5148\u5929\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30df\u30aa\u30d1\u30c1\u30fc\u304c\u6319\u304c\u308b\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u91cd\u75c7\u7b4b\u7121\u529b\u75c7\u3068\u306f\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u307e\u3063\u305f\u304f\u5225\u306e\u75c5\u6c17\u3067\u3059\u3002<\/strong>\u91cd\u75c7\u7b4b\u7121\u529b\u75c7\u306f\u514d\u75ab\u304c\u81ea\u5206\u306e\u304b\u3089\u3060\u3092\u653b\u6483\u3059\u308b\u75c5\u6c17\u3067\u3001\u30b9\u30c6\u30ed\u30a4\u30c9\u3084\u514d\u75ab\u6291\u5236\u85ac\u3001\u8840\u6f3f\u4ea4\u63db\u304c\u6709\u52b9\u3067\u3059\u3002\u4e00\u65b9\u3053\u306e\u75c5\u6c17\u306f\u751f\u307e\u308c\u3064\u304d\u306e\u4f53\u8cea\u306b\u3088\u308b\u3082\u306e\u3067\u3001<strong>\u514d\u75ab\u306e\u6cbb\u7642\u306f\u52b9\u304d\u307e\u305b\u3093\u3002<\/strong>\u6cbb\u7642\u304c\u307e\u3063\u305f\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u533a\u5225\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u4eba\u53e3100\u4e07\u4eba\u3042\u305f\u308a\u6570\u4eba\u304b\u3089\u5341\u6570\u4eba\u3068\u3055\u308c\u3001\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002\u305f\u3060\u3057<strong>\u91cd\u75c7\u7b4b\u7121\u529b\u75c7\u3084\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3068\u8aa4\u8a3a\u3055\u308c\u3066\u3044\u308b\u4f8b\u304c\u3042\u308b<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u5b9f\u969b\u306b\u306f\u3082\u3046\u5c11\u3057\u591a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u85ac\u3092\u98f2\u3081\u3070\u666e\u901a\u306b\u751f\u6d3b\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u578b\u306b\u5408\u3063\u305f\u85ac\u304c\u898b\u3064\u304b\u308c\u3070\u3001\u5927\u304d\u304f\u6539\u5584\u3059\u308b\u65b9\u304c\u591a\u304f\u3044\u307e\u3059\u3002<\/strong>\u75c7\u72b6\u304c\u5b8c\u5168\u306b\u306a\u304f\u306a\u308b\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u304c\u3001\u901a\u5b66\u30fb\u5c31\u52b4\u3092\u542b\u3081\u305f\u65e5\u5e38\u751f\u6d3b\u304c\u9001\u308c\u308b\u3088\u3046\u306b\u306a\u308b\u65b9\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u307e\u3076\u305f\u306f\u4e0b\u304c\u3063\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u75c5\u6c17\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u3001\u307e\u3076\u305f\u306e\u4e0b\u5782\u3084\u76ee\u306e\u52d5\u304d\u306e\u5236\u9650\u304c\u76ee\u7acb\u305f\u306a\u3044\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002\u80a9\u3084\u8170\u306e\u7b4b\u529b\u4f4e\u4e0b\u3068\u3001\u904b\u52d5\u5f8c\u306e\u75b2\u308c\u3084\u3059\u3055\u304c\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<strong>\u7121\u547c\u5438\u767a\u4f5c\u3092\u8d77\u3053\u3059\u578b\u3067\u306f\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3092\u65e9\u671f\u306b\u8a3a\u65ad\u3067\u304d\u308c\u3070\u547d\u3092\u5b88\u308b\u3053\u3068\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Engel AG, Shen XM, Selcen D, Sine SM. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. <em>Lancet Neurol<\/em>. 2015;14(4):420-434.<\/li>\n\n\n\n<li>Finsterer J. Congenital myasthenic syndromes. <em>Orphanet J Rare Dis<\/em>. 2019;14(1):57.<\/li>\n\n\n\n<li>Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes. <em>Int J Mol Sci<\/em>. 2023;24(4):3730.<\/li>\n\n\n\n<li>Cossins J, Belaya K, Hicks D, et al. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. <em>Brain<\/em>. 2013;136(Pt 3):944-956.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-137001","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\/137001","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\/137001\/revisions"}],"predecessor-version":[{"id":137319,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/137001\/revisions\/137319"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=137001"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}