{"id":17248,"date":"2026-01-22T00:30:24","date_gmt":"2026-01-22T00:30:24","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17248"},"modified":"2026-01-22T00:30:24","modified_gmt":"2026-01-22T00:30:24","slug":"charcot-marie-tooth-disease-type-1a","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/charcot-marie-tooth-disease-type-1a\/","title":{"rendered":"Charcot-Marie-Tooth disease, type 1A"},"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>CMT1A<\/li>\n\n\n\n<li>\u907a\u4f1d\u6027\u904b\u52d5\u611f\u899a\u6027\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc 1A\u578b\uff08Hereditary Motor and Sensory Neuropathy type IA; HMSN IA\uff09\n<ul class=\"wp-block-list\">\n<li>\u203bCMT\u306f\u6b74\u53f2\u7684\u306a\u540d\u79f0\u3067\u3042\u308a\u3001\u533b\u5b66\u7684\u306a\u5206\u985e\u3068\u3057\u3066\u306fHMSN\u304c\u4f7f\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u306fCMT\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u8153\u9aa8\u7b4b\u840e\u7e2e\u75c7\uff08Peroneal muscular atrophy\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u53e4\u3044\u540d\u79f0\u3067\u3059\u304c\u3001\u3075\u304f\u3089\u306f\u304e\u306e\u7b4b\u8089\u304c\u75e9\u305b\u308b\u7279\u5fb4\u3092\u6349\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u8131\u9ac4\u578bCMT\uff08Demyelinating CMT\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1aHNPP\uff08\u5727\u8106\u5f31\u6027\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc \/ Hereditary Neuropathy with Liability to Pressure Palsies\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b<strong>\u3010\u91cd\u8981\u3011<\/strong> CMT1A\u3068\u540c\u3058\u67d3\u8272\u4f53\u9818\u57df\uff0817p11.2\uff09\u306e\u7570\u5e38\u3067\u3059\u304c\u3001CMT1A\u304c\u300c\u91cd\u8907\uff08\u5897\u3048\u308b\uff09\u300d\u3067\u3042\u308b\u306e\u306b\u5bfe\u3057\u3001HNPP\u306f\u300c\u6b20\u5931\uff08\u6e1b\u308b\uff09\u300d\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u3044\u308f\u3070\u93e1\u5408\u308f\u305b\u306e\u95a2\u4fc2\u306b\u3042\u308b\u75be\u60a3\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/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>17\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0911.2\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e17\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u300c11.2\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\uff08\u7d041.4Mb\u306e\u9818\u57df\uff09\u304c**\u91cd\u8907\uff08Duplication\uff09**\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068PMP22\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u91cd\u8907\u9818\u57df\u306b\u306f\u3001\u672c\u75be\u60a3\u306e\u4e3b\u5f79\u3068\u306a\u308bPMP22\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>PMP22 (Peripheral Myelin Protein 22):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672b\u68a2\u795e\u7d4c\u306e\u300c\u9ac4\u9798\uff08\u305a\u3044\u3057\u3087\u3046\uff1a\u795e\u7d4c\u306e\u96fb\u7dda\u3092\u8986\u3046\u7d76\u7e01\u30ab\u30d0\u30fc\uff09\u300d\u3092\u69cb\u6210\u3059\u308b\u91cd\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u901a\u5e38\u3001\u4eba\u306f\u7236\u65b9\u3068\u6bcd\u65b9\u304b\u30891\u672c\u305a\u3064\u3001\u8a082\u672c\u306e<em>PMP22<\/em>\u907a\u4f1d\u5b50\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>CMT1A\uff08\u672c\u75be\u60a3\uff09:<\/strong> \u907a\u4f1d\u5b50\u304c\u91cd\u8907\u3057\u3066**3\u672c\uff083\u30b3\u30d4\u30fc\uff09**\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001PMP22\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u904e\u5270\u306b\u4f5c\u3089\u308c\u3001\u9006\u306b\u9ac4\u9798\u306e\u69cb\u9020\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u308a\u3001\u58ca\u308c\u3084\u3059\u304f\u306a\u308a\u307e\u3059\uff08\u8131\u9ac4\uff09\u3002<\/li>\n\n\n\n<li><strong>HNPP\uff08\u95a2\u9023\u75be\u60a3\uff09:<\/strong> \u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066**1\u672c\uff081\u30b3\u30d4\u30fc\uff09**\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u3082\u307e\u305f\u3001\u9ac4\u9798\u306e\u6a5f\u80fd\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u304c\u3001CMT1A\u3068\u306f\u7570\u306a\u308b\u75c7\u72b6\uff08\u5727\u8feb\u306b\u5f31\u304f\u306a\u308b\uff09\u304c\u51fa\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3092**\u300c\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene dosage effect\uff09\u300d**\u3068\u547c\u3073\u307e\u3059\u3002\u907a\u4f1d\u5b50\u306f\u591a\u3059\u304e\u3066\u3082\u5c11\u306a\u3059\u304e\u3066\u3082\u3001\u6b63\u5e38\u306a\u6a5f\u80fd\u3092\u679c\u305f\u305b\u306a\u3044\u306e\u3067\u3059\u3002<\/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>\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u907a\u4f1d\u6027\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u4f53\u983b\u5ea6:<\/strong> CMT\u5168\u4f53\u3068\u3057\u3066\u306e\u983b\u5ea6\u306f\u3001\u4eba\u53e32,500\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u6307\u5b9a\u96e3\u75c5\u306e\u4e2d\u3067\u3082\u975e\u5e38\u306b\u60a3\u8005\u6570\u304c\u591a\u3044\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>CMT1A\u306e\u5272\u5408:<\/strong> \u5168CMT\u60a3\u8005\u306e\u7d0430\u301c50%\u3001\u8131\u9ac4\u578b\uff081\u578b\uff09\u306b\u9650\u308c\u3070\u7d0470\u301c80%\u3092\u3053\u306e\u300cCMT1A\u300d\u304c\u5360\u3081\u307e\u3059\u3002\u3064\u307e\u308a\u3001CMT\u306e\u4e2d\u3067\u6700\u3082\u51fa\u4f1a\u3046\u78ba\u7387\u306e\u9ad8\u3044\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\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>CMT1A\u306e\u75c7\u72b6\u306f\u3001\u624b\u8db3\u306e\u672b\u7aef\uff08\u9060\u4f4d\uff09\u304b\u3089\u59cb\u307e\u308b\u3001\u3086\u3063\u304f\u308a\u3068\u3057\u305f\u9032\u884c\u6027\u306e\u7b4b\u529b\u4f4e\u4e0b\u3068\u611f\u899a\u969c\u5bb3\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u75c7\u6642\u671f\u306f\u5c0f\u5150\u671f\u301c\u9752\u5e74\u671f\uff0810\u4ee3\u301c20\u4ee3\uff09\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u75c7\u72b6\u304c\u8efd\u5fae\u3067\u4e2d\u5e74\u4ee5\u964d\u306b\u8a3a\u65ad\u3055\u308c\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u751f\u547d\u4e88\u5f8c\uff08\u5bff\u547d\uff09\u306f\u4e00\u822c\u306e\u4eba\u3068\u5909\u308f\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>1. \u904b\u52d5\u6a5f\u80fd\u969c\u5bb3\uff08Motor symptoms\uff09<\/strong><\/p>\n\n\n\n<p>\u795e\u7d4c\u306e\u4f1d\u9054\u901f\u5ea6\u304c\u9045\u304f\u306a\u308b\u3053\u3068\u3067\u3001\u7b4b\u8089\u3078\u306e\u6307\u4ee4\u304c\u5c4a\u304d\u306b\u304f\u304f\u306a\u308a\u3001\u7b4b\u8089\u304c\u75e9\u305b\u3066\u5f31\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0b\u80a2\u306e\u75c7\u72b6\uff08\u521d\u671f\u301c\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0b\u5782\u8db3\uff08Foot drop\uff09\uff1a<\/strong> \u8db3\u9996\u3092\u6301\u3061\u4e0a\u3052\u308b\u7b4b\u8089\uff08\u524d\u811b\u9aa8\u7b4b\u306a\u3069\uff09\u304c\u5f31\u304f\u306a\u308a\u3001\u6b69\u304f\u3068\u304d\u306b\u3064\u307e\u5148\u304c\u4e0b\u304c\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9d8f\u6b69\uff08Steppage gait\uff09\uff1a<\/strong> \u3064\u307e\u5148\u304c\u5f15\u3063\u304b\u304b\u3089\u306a\u3044\u3088\u3046\u306b\u3001\u819d\u3092\u9ad8\u304f\u4e0a\u3052\u3066\u6b69\u304f\u72ec\u7279\u306e\u6b69\u304d\u65b9\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3064\u307e\u305a\u304d\u3084\u3059\u3055:<\/strong> \u4f53\u80b2\u306e\u6642\u9593\u306b\u3088\u304f\u8ee2\u3076\u3001\u4f55\u3082\u306a\u3044\u3068\u3053\u308d\u3067\u3064\u307e\u305a\u304f\u3001\u3068\u3044\u3063\u305f\u30a8\u30d4\u30bd\u30fc\u30c9\u304c\u521d\u671f\u75c7\u72b6\u3068\u3057\u3066\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9006\u30b7\u30e3\u30f3\u30d1\u30f3\u30dc\u30c8\u30eb\u69d8\u4e0b\u817f\uff08Inverted champagne bottle legs\uff09\uff1a<\/strong> \u3075\u304f\u3089\u306f\u304e\u306e\u7b4b\u8089\u304c\u75e9\u305b\u3066\u7d30\u304f\u306a\u308b\u4e00\u65b9\u3067\u3001\u592a\u3082\u3082\u306e\u7b4b\u8089\u306f\u4fdd\u305f\u308c\u308b\u305f\u3081\u3001\u30b7\u30e3\u30f3\u30d1\u30f3\u30dc\u30c8\u30eb\u3092\u9006\u3055\u306b\u3057\u305f\u3088\u3046\u306a\u811a\u306e\u5f62\u306b\u306a\u308a\u307e\u3059\uff08\u30b3\u30a6\u30ce\u30c8\u30ea\u811a\u3068\u3082\u547c\u3070\u308c\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8db3\u306e\u5909\u5f62:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u51f9\u8db3\uff08Pes cavus\uff09\uff1a<\/strong> \u571f\u8e0f\u307e\u305a\u304c\u7570\u5e38\u306b\u9ad8\u304f\u306a\u308b\uff08\u30cf\u30a4\u30a2\u30fc\u30c1\uff09\u5909\u5f62\u304c\u3001\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u69cc\u6307\uff08Hammertoes\uff09\uff1a<\/strong> \u8db3\u306e\u6307\u304c\u9264\u722a\u306e\u3088\u3046\u306b\u66f2\u304c\u308b\u5909\u5f62\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e0a\u80a2\u306e\u75c7\u72b6\uff08\u9032\u884c\u5f8c\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u75c5\u72b6\u304c\u9032\u884c\u3059\u308b\u3068\u3001\u624b\u306e\u7b4b\u8089\uff08\u7279\u306b\u89aa\u6307\u306e\u4ed8\u3051\u6839\u3084\u624b\u306e\u3072\u3089\uff09\u3082\u75e9\u305b\u3066\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30da\u30c3\u30c8\u30dc\u30c8\u30eb\u306e\u30ad\u30e3\u30c3\u30d7\u304c\u958b\u3051\u306b\u304f\u3044\u3001\u30dc\u30bf\u30f3\u304c\u304b\u3051\u306b\u304f\u3044\u3001\u3068\u3044\u3063\u305f\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\uff08\u5de7\u7dfb\u904b\u52d5\u969c\u5bb3\uff09\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u611f\u899a\u969c\u5bb3\uff08Sensory symptoms\uff09<\/strong><\/p>\n\n\n\n<p>\u904b\u52d5\u969c\u5bb3\u306b\u6bd4\u3079\u308b\u3068\u81ea\u899a\u3057\u306b\u304f\u3044\u3067\u3059\u304c\u3001\u8a3a\u5bdf\u3059\u308b\u3068\u660e\u3089\u304b\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u624b\u888b\u9774\u4e0b\u578b\u306e\u611f\u899a\u4f4e\u4e0b:<\/strong> \u624b\u5148\u3084\u8db3\u5148\u3068\u3044\u3063\u305f\u672b\u7aef\u90e8\u5206\u306b\u304a\u3044\u3066\u3001\u632f\u52d5\u899a\uff08\u63fa\u308c\u3092\u611f\u3058\u308b\u611f\u899a\uff09\u3084\u4f4d\u7f6e\u899a\u3001\u89e6\u899a\u304c\u920d\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75db\u307f\u30fb\u3057\u3073\u308c:<\/strong> \u75db\u307f\u3092\u611f\u3058\u306b\u304f\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u795e\u7d4c\u75db\u3084\u7b4b\u8089\u306e\u3051\u3044\u308c\u3093\uff08\u3053\u3080\u3089\u8fd4\u308a\uff09\u3092\u8a34\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6df1\u90e8\u8171\u53cd\u5c04\u306e\u6d88\u5931<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u819d\u3084\u8db3\u9996\u3092\u30cf\u30f3\u30de\u30fc\u3067\u53e9\u3044\u3066\u3082\u53cd\u5fdc\u3057\u306a\u3044\uff08\u7121\u53cd\u5c04\uff09\u3001\u307e\u305f\u306f\u53cd\u5fdc\u304c\u5f31\u3044\uff08\u53cd\u5c04\u4f4e\u4e0b\uff09\u3053\u3068\u304c\u3001\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u810a\u67f1\u5074\u5f2f\u75c7:<\/strong> \u80cc\u9aa8\u304c\u66f2\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u6210\u9577\u671f\u306e\u30c1\u30a7\u30c3\u30af\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7761\u7720\u6642\u7121\u547c\u5438:<\/strong> \u7a00\u306b\u3001\u547c\u5438\u306b\u95a2\u308f\u308b\u7b4b\u8089\u3084\u54bd\u982d\u7b4b\u306e\u5f71\u97ff\u3067\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u80fd:<\/strong> \u77e5\u7684\u767a\u9054\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u8133\u6a5f\u80fd\u306b\u306f\u5f71\u97ff\u3057\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>17\u756a\u67d3\u8272\u4f53\uff0817p11.2\uff09\u306b\u304a\u3051\u308bPMP22\u907a\u4f1d\u5b50\u306e\u91cd\u8907<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f\uff1a\u4e0d\u7b49\u4ea4\u53c9\uff08Unequal Crossing Over\uff09<\/strong><\/p>\n\n\n\n<p>\u306a\u305c\u3001\u3053\u306e\u90e8\u5206\u304c\u5897\u3048\u3066\u3057\u307e\u3046\u306e\u3067\u3057\u3087\u3046\u304b\uff1f<\/p>\n\n\n\n<p>17p11.2\u9818\u57df\u306b\u306f\u3001**\u300cREP\uff08Low Copy Repeats\uff09\u300d**\u3068\u547c\u3070\u308c\u308b\u3001DNA\u306e\u914d\u5217\u304c\u305d\u3063\u304f\u308a\u306a\u30d6\u30ed\u30c3\u30af\u304c\u3001PMP22\u907a\u4f1d\u5b50\u3092\u631f\u3080\u3088\u3046\u306b\u914d\u7f6e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u969b\uff08\u6e1b\u6570\u5206\u88c2\uff09\u3001\u67d3\u8272\u4f53\u540c\u58eb\u304c\u30da\u30a2\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u3053\u306e\u300c\u305d\u3063\u304f\u308a\u306a\u30d6\u30ed\u30c3\u30af\u300d\u306e\u305b\u3044\u3067\u3001\u30da\u30a2\u3092\u7d44\u3080\u4f4d\u7f6e\u304c\u305a\u308c\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u7d50\u679c\u3001\u7247\u65b9\u306e\u67d3\u8272\u4f53\u306b\u306f\u907a\u4f1d\u5b50\u304c2\u3064\u5206\uff08\u91cd\u8907\uff1aCMT1A\uff09\u3001\u3082\u3046\u7247\u65b9\u306b\u306f\u907a\u4f1d\u5b50\u304c\u306a\u3044\uff08\u6b20\u5931\uff1aHNPP\uff09\u3068\u3044\u3046\u73fe\u8c61\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u69cb\u9020\u7684\u306b\u8d77\u3053\u308a\u3084\u3059\u3044\u30a8\u30e9\u30fc\u3067\u3042\u308a\u3001\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3060\u3051\u3067\u306a\u304f\u3001\u7a81\u7136\u5909\u7570\u3068\u3057\u3066\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5f62\u5f0f\uff1a\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff08\u512a\u6027\u907a\u4f1d\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>50%\u306e\u78ba\u7387:<\/strong> \u89aa\u306e\u3069\u3061\u3089\u304b\u304cCMT1A\u306e\u5834\u5408\u3001\u5b50\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6d78\u900f\u7387:<\/strong> \u307b\u307c100%\u3067\u3059\u3002\u3064\u307e\u308a\u3001\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308c\u3070\u3001\u7a0b\u5ea6\u306e\u5dee\u306f\u3042\u308c\u4f55\u3089\u304b\u306e\u75c7\u72b6\uff08\u795e\u7d4c\u4f1d\u5c0e\u901f\u5ea6\u306e\u4f4e\u4e0b\u306a\u3069\uff09\u304c\u51fa\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8868\u73fe\u578b\u306e\u5dee\u7570:<\/strong> \u540c\u3058\u5bb6\u65cf\u5185\uff08\u5168\u304f\u540c\u3058\u907a\u4f1d\u5b50\u5909\u7570\uff09\u3067\u3042\u3063\u3066\u3082\u3001\u8eca\u6905\u5b50\u304c\u5fc5\u8981\u306b\u306a\u308b\u4eba\u3082\u3044\u308c\u3070\u3001\u5c11\u3057\u8db3\u304c\u75b2\u308c\u3084\u3059\u3044\u7a0b\u5ea6\u306e\u4eba\u3082\u3044\u308b\u306a\u3069\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u8db3\u306e\u5909\u5f62\u300d\u300c\u8171\u53cd\u5c04\u6d88\u5931\u300d\u306a\u3069\u306e\u81e8\u5e8a\u6240\u898b\u306b\u52a0\u3048\u3001\u96fb\u6c17\u751f\u7406\u5b66\u7684\u691c\u67fb\u3068\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u4f1d\u5c0e\u691c\u67fb\uff08NCS\uff09\uff1a\u5fc5\u9808<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u76ae\u819a\u306e\u4e0a\u304b\u3089\u96fb\u6c17\u523a\u6fc0\u3092\u4e0e\u3048\u3001\u795e\u7d4c\u3092\u4f1d\u308f\u308b\u901f\u3055\u3092\u6e2c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>CMT1A\u3067\u306f\u3001\u9ac4\u9798\u304c\u58ca\u308c\u3066\u3044\u308b\u305f\u3081\u3001**\u4f1d\u5c0e\u901f\u5ea6\u304c\u8457\u3057\u304f\u4f4e\u4e0b\uff08\u5747\u4e00\u306b\u9045\u304f\u306a\u308b\uff09**\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5177\u4f53\u7684\u306b\u306f\u3001\u6b63\u4e2d\u795e\u7d4c\u306a\u3069\u306e\u904b\u52d5\u795e\u7d4c\u4f1d\u5c0e\u901f\u5ea6\uff08MCV\uff09\u304c<strong>38 m\/s\u4ee5\u4e0b<\/strong>\uff08\u6b63\u5e38\u306f50-60 m\/s\u4ee5\u4e0a\uff09\u306b\u306a\u308b\u3053\u3068\u304c\u8a3a\u65ad\u57fa\u6e96\u306e\u4e00\u3064\u3067\u3059\u3002\u5c0f\u5150\u671f\u304b\u3089\uff08\u75c7\u72b6\u304c\u51fa\u308b\u524d\u304b\u3089\uff09\u901f\u5ea6\u4f4e\u4e0b\u306f\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff1a\u78ba\u5b9a\u8a3a\u65ad<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8840\u6db2\u691c\u67fb\uff08DNA\u691c\u67fb\uff09\u3067\u300117p11.2\u9818\u57df\u306e\u91cd\u8907\uff08PMP22\u306e\u30b3\u30d4\u30fc\u6570\uff09\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>FISH\u6cd5<\/strong>\u3084<strong>MLPA\u6cd5<\/strong>\u3001<strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u6cd5<\/strong>\u306a\u3069\u304c\u7528\u3044\u3089\u308c\u3001\u91cd\u8907\u304c\u78ba\u8a8d\u3055\u308c\u308c\u3070\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u65e5\u672c\u3067\u306f\u4fdd\u967a\u9069\u7528\u3067\u691c\u67fb\u304c\u53ef\u80fd\u3067\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>\u73fe\u6642\u70b9\u3067\u3001\u907a\u4f1d\u5b50\u91cd\u8907\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u85ac\u306f\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u4e16\u754c\u4e2d\u3067\u6d3b\u767a\u306b\u958b\u767a\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306e\u533b\u7642\u306f\u3001\u6a5f\u80fd\u3092\u7dad\u6301\u3057\u751f\u6d3b\u3092\u652f\u3048\u308b**\u300c\u5bfe\u75c7\u7642\u6cd5\uff08\u30ea\u30cf\u30d3\u30ea\u30fb\u88c5\u5177\u30fb\u624b\u8853\uff09\u300d**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u30fb\u88c5\u5177\u7642\u6cd5<\/strong><\/p>\n\n\n\n<p><strong>CMT1A\u6cbb\u7642\u306e\u8981\uff08\u304b\u306a\u3081\uff09\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u529b\u4f4e\u4e0b\u3092\u9632\u3050\u305f\u3081\u306e\u9069\u5ea6\u306a\u7b4b\u529b\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u3001\u95a2\u7bc0\u304c\u56fa\u304f\u306a\u308b\uff08\u62d8\u7e2e\uff09\u306e\u3092\u9632\u3050\u30b9\u30c8\u30ec\u30c3\u30c1\u3092\u884c\u3044\u307e\u3059\u3002\u904e\u5ea6\u306a\u904b\u52d5\u306f\u9006\u52b9\u679c\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u5c02\u9580\u5bb6\u306e\u6307\u5c0e\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u88c5\u5177\uff08Orthotics\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u77ed\u4e0b\u80a2\u88c5\u5177\uff08AFO\uff09\uff1a<\/strong> \u4e0b\u5782\u8db3\uff08\u3064\u307e\u5148\u304c\u4e0b\u304c\u308b\uff09\u304c\u3042\u308b\u5834\u5408\u3001\u88c5\u5177\u3092\u3064\u3051\u308b\u3053\u3068\u3067\u6b69\u884c\u304c\u5287\u7684\u306b\u5b89\u5b9a\u3057\u3001\u8ee2\u5012\u3092\u9632\u3050\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d7\u30e9\u30b9\u30c1\u30c3\u30af\u88fd\u3084\u30ab\u30fc\u30dc\u30f3\u88fd\u306a\u3069\u3001\u76ee\u7acb\u3061\u306b\u304f\u3044\u3082\u306e\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30a4\u30f3\u30bd\u30fc\u30eb\uff08\u4e2d\u6577\u304d\uff09\uff1a<\/strong> \u51f9\u8db3\uff08\u30cf\u30a4\u30a2\u30fc\u30c1\uff09\u306b\u3088\u308b\u8db3\u88cf\u306e\u75db\u307f\u3084\u30bf\u30b3\u3092\u8efd\u6e1b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6574\u5f62\u5916\u79d1\u7684\u624b\u8853<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8db3\u306e\u5909\u5f62\uff08\u51f9\u8db3\u3084\u5185\u53cd\u8db3\uff09\u304c\u5f37\u304f\u3001\u88c5\u5177\u3067\u3082\u6b69\u884c\u304c\u56f0\u96e3\u306a\u5834\u5408\u3084\u75db\u307f\u304c\u5f37\u3044\u5834\u5408\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8171\u79fb\u884c\u8853:<\/strong> \u5f37\u3044\u7b4b\u8089\u306e\u4ed8\u7740\u90e8\u3092\u79fb\u52d5\u3055\u305b\u3066\u3001\u5f31\u3063\u305f\u7b4b\u8089\u306e\u50cd\u304d\u3092\u52a9\u3051\u3001\u30d0\u30e9\u30f3\u30b9\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u5207\u308a\u8853\u30fb\u95a2\u7bc0\u56fa\u5b9a\u8853:<\/strong> \u9aa8\u306e\u5f62\u3092\u6574\u3048\u305f\u308a\u3001\u95a2\u7bc0\u3092\u56fa\u5b9a\u3057\u3066\u5b89\u5b9a\u3055\u305b\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u624b\u8853\u306b\u3088\u3063\u3066\u6b69\u884c\u80fd\u529b\u304c\u6539\u5584\u3059\u308b\u30b1\u30fc\u30b9\u306f\u591a\u3044\u3067\u3059\u304c\u3001\u9069\u5207\u306a\u6642\u671f\uff08\u6210\u9577\u7d42\u4e86\u5f8c\u306a\u3069\uff09\u3092\u898b\u6975\u3081\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7981\u5fcc\u85ac\u30fb\u6ce8\u610f\u3059\u3079\u304d\u85ac\u5264\uff08Drug Contraindications\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u6bd2\u6027\u306e\u3042\u308b\u85ac\u5264:<\/strong>\n<ul class=\"wp-block-list\">\n<li>CMT\u306e\u60a3\u8005\u3055\u3093\u306f\u795e\u7d4c\u304c\u50b7\u3064\u304d\u3084\u3059\u3044\u305f\u3081\u3001\u4e00\u90e8\u306e\u6297\u304c\u3093\u5264\uff08\u30d3\u30f3\u30af\u30ea\u30b9\u30c1\u30f3\u306a\u3069\uff09\u306f\u3001\u91cd\u7be4\u306a\u9ebb\u75fa\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u539f\u5247\u7981\u5fcc\u3001\u3042\u308b\u3044\u306f\u6975\u3081\u3066\u614e\u91cd\u306b\u4f7f\u7528\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305d\u306e\u4ed6\u306e\u85ac\u5264\u306b\u3064\u3044\u3066\u306f\u3001CMT\u95a2\u9023\u306e\u30a6\u30a7\u30d6\u30b5\u30a4\u30c8\uff08CMT Association\u306a\u3069\uff09\u3067\u30ea\u30b9\u30c8\u3092\u78ba\u8a8d\u3057\u3001\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7814\u7a76\u4e2d\u306e\u6cbb\u7642\u85ac\uff08PXT3003\u306a\u3069\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>PXT3003 (Pharnext):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u65e2\u5b58\u306e3\u3064\u306e\u85ac\uff08\u30d0\u30af\u30ed\u30d5\u30a7\u30f3\u3001\u30ca\u30eb\u30c8\u30ec\u30ad\u30bd\u30f3\u3001\u30bd\u30eb\u30d3\u30c8\u30fc\u30eb\uff09\u3092\u914d\u5408\u3057\u305f\u5408\u5264\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>PMP22<\/em>\u907a\u4f1d\u5b50\u306e\u904e\u5270\u306a\u767a\u73fe\u3092\u6291\u3048\u308b\u52b9\u679c\u304c\u671f\u5f85\u3055\u308c\u3066\u304a\u308a\u3001\u56fd\u969b\u7684\u306a\u81e8\u5e8a\u8a66\u9a13\uff08\u7b2c3\u76f8\u8a66\u9a13\uff09\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002CMT1A\u306b\u5bfe\u3059\u308b\u4e16\u754c\u521d\u306e\u6cbb\u7642\u85ac\u3068\u306a\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u60c5\u5831\u306e\u6574\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e88\u5f8c\uff08\u5bff\u547d\u306f\u6b63\u5e38\u3067\u3042\u308b\u3053\u3068\u3001\u9032\u884c\u306f\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\uff09\u3092\u6b63\u3057\u304f\u4f1d\u3048\u3001\u904e\u5ea6\u306a\u4e0d\u5b89\u3092\u53d6\u308a\u9664\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u3084\u3001\u8840\u7e01\u8005\u306e\u767a\u75c7\u30ea\u30b9\u30af\uff08\u89aa\u304c\u672a\u8a3a\u65ad\u306e\u60a3\u8005\u3067\u3042\u308b\u53ef\u80fd\u6027\uff09\u306b\u3064\u3044\u3066\u76f8\u8ac7\u306b\u4e57\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7d50\u5a5a\u3084\u5c31\u8077\u3001\u598a\u5a20\u30fb\u51fa\u7523\u306a\u3069\u306e\u30e9\u30a4\u30d5\u30a4\u30d9\u30f3\u30c8\u306b\u304a\u3051\u308b\u60a9\u307f\u306b\u5bfe\u3057\u3001\u9577\u671f\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Charcot-Marie-Tooth disease, type 1A (CMT1A) \u306f\u3001\u672b\u68a2\u795e\u7d4c\u306e\u30ab\u30d0\u30fc\uff08\u9ac4\u9798\uff09\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u304c\u300c\u91cd\u8907\u300d\u3057\u3066\u5897\u3048\u3059\u304e\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u306e\u4f1d\u308f\u308b\u901f\u5ea6\u304c\u9045\u304f\u306a\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>CMT\u306e\u4e2d\u3067\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u6c7a\u3057\u3066\u73cd\u3057\u3059\u304e\u308b\u75c5\u6c17\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u7279\u5fb4\u306f\u3001\u5b50\u4f9b\u306e\u9803\u304b\u3089\u300c\u304b\u3051\u3063\u3053\u304c\u82e6\u624b\u300d\u300c\u3088\u304f\u8ee2\u3076\u300d\u3068\u3044\u3063\u305f\u30b5\u30a4\u30f3\u3067\u59cb\u307e\u308a\u3001\u3086\u3063\u304f\u308a\u3068\u8db3\u3084\u624b\u306e\u529b\u304c\u5f31\u304f\u306a\u3063\u3066\u3044\u304f\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u91cd\u8981\u306a\u3053\u3068\u306f\u3001**\u300c\u9032\u884c\u306f\u975e\u5e38\u306b\u3086\u3063\u304f\u308a\u3067\u3042\u308a\u3001\u5bff\u547d\u306b\u306f\u5f71\u97ff\u3057\u306a\u3044\u300d**\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u65b9\u306f\u3001\u4ed5\u4e8b\u3092\u6301\u3061\u3001\u5bb6\u5ead\u3092\u7bc9\u304d\u3001\u81ea\u7acb\u3057\u305f\u4eba\u751f\u3092\u9001\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u7684\u306a\u767a\u9054\u306b\u306f\u5168\u304f\u554f\u984c\u304c\u306a\u304f\u3001\u75db\u307f\u3084\u611f\u899a\u306e\u920d\u3055\u3082\u3001\u88c5\u5177\u3084\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3067\u4e0a\u624b\u306b\u4ed8\u304d\u5408\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u8db3\u9996\u3092\u652f\u3048\u308b\u88c5\u5177\uff08AFO\uff09\u306a\u3069\u306e\u88dc\u52a9\u5177\u306f\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5927\u304d\u304f\u9ad8\u3081\u3066\u304f\u308c\u308b\u983c\u3082\u3057\u3044\u5473\u65b9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u73fe\u5728\u4e16\u754c\u4e2d\u3067\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u6574\u3059\u308b\u304a\u85ac\uff08PXT3003\u306a\u3069\uff09\u306e\u958b\u767a\u304c\u6700\u7d42\u6bb5\u968e\u306b\u5165\u3063\u3066\u304a\u308a\u3001\u6cbb\u7642\u306e\u672a\u6765\u306f\u660e\u308b\u304f\u306a\u308a\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u3084\u3054\u672c\u4eba\u304c\u4e00\u756a\u6c17\u3092\u3064\u3051\u308b\u3079\u304d\u306f\u3001\u300c\u8ee2\u5012\u306b\u3088\u308b\u602a\u6211\u300d\u3068\u300c\u5408\u308f\u306a\u3044\u9774\u306b\u3088\u308b\u8db3\u306e\u30c8\u30e9\u30d6\u30eb\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u795e\u7d4c\u5185\u79d1\u533b\u3001\u6574\u5f62\u5916\u79d1\u533b\u3001\u30ea\u30cf\u30d3\u30ea\u30b9\u30bf\u30c3\u30d5\u3001\u7fa9\u80a2\u88c5\u5177\u58eb\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u3054\u81ea\u8eab\u306e\u8db3\u306e\u7279\u5fb4\u3092\u3088\u304f\u7406\u89e3\u3057\u305f\u4e0a\u3067\u3001\u81ea\u5206\u3089\u3057\u3044\u30a2\u30af\u30c6\u30a3\u30d6\u306a\u751f\u6d3b\u3092\u7d9a\u3051\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Lupski, J.R., et al.<\/strong> (1991). <em>DNA duplication associated with Charcot-Marie-Tooth disease type 1A.<\/em> Cell.\n<ul class=\"wp-block-list\">\n<li>(\u203bCMT1A\u306e\u539f\u56e0\u304c17p11.2\u9818\u57df\u306eDNA\u91cd\u8907\u3067\u3042\u308b\u3053\u3068\u3092\u7a81\u304d\u6b62\u3081\u305f\u3001\u6b74\u53f2\u7684\u304b\u3064\u6700\u3082\u91cd\u8981\u306a\u539f\u8457\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Raeymaekers, P., et al.<\/strong> (1991). <em>Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a).<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bLupski\u3089\u306e\u767a\u898b\u3068\u540c\u6642\u671f\u306b\u3001\u6b27\u5dde\u306e\u7814\u7a76\u30b0\u30eb\u30fc\u30d7\u304c\u91cd\u8907\u5909\u7570\u3092\u5831\u544a\u3057\u305f\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Pareyson, D., et al.<\/strong> (2009). <em>Diagnosis and management of Charcot-Marie-Tooth disease.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bCMT\u306e\u8a3a\u65ad\u30d5\u30ed\u30fc\u30c1\u30e3\u30fc\u30c8\u3001\u5404\u75c5\u578b\u306e\u7279\u5fb4\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3084\u5916\u79d1\u7684\u6cbb\u7642\u3092\u542b\u3080\u7ba1\u7406\u6307\u91dd\u3092\u7db2\u7f85\u3057\u305f\u30ec\u30d3\u30e5\u30fc\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Attarian, S., et al.<\/strong> (2021). <em>Efficacy and safety of PXT3003 in patients with Charcot-Marie-Tooth disease type 1A (PREMIER trial).<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u73fe\u5728\u958b\u767a\u4e2d\u306e\u6cbb\u7642\u85acPXT3003\u306e\u81e8\u5e8a\u8a66\u9a13\u7d50\u679c\u306b\u95a2\u3059\u308b\u6700\u65b0\u306e\u5831\u544a\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Charcot-Marie-Tooth Neuropathy Type 1<\/em>. Initial Posting: 1998; Last Update: 2022. <em>Authors: Bird TD.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bCMT1A\u306e\u8a3a\u65ad\u57fa\u6e96\u3001\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u60c5\u5831\u3001\u7981\u5fcc\u85ac\u30ea\u30b9\u30c8\u306a\u3069\u3092\u7db2\u7f85\u3057\u305f\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u6700\u3082\u4fe1\u983c\u3055\u308c\u308b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Saporta, A.S., et al.<\/strong> (2011). <em>Charcot-Marie-Tooth disease subtypes and genetic testing strategies.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bCMT\u306e\u591a\u6570\u306e\u60a3\u8005\u30b3\u30db\u30fc\u30c8\u3092\u89e3\u6790\u3057\u3001CMT1A\u304c\u5168\u4f53\u306e\u904e\u534a\u6570\u3092\u5360\u3081\u308b\u3053\u3068\u3084\u3001\u5404\u75c5\u578b\u306e\u983b\u5ea6\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u75ab\u5b66\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/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-17248","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\/17248","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":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17248\/revisions"}],"predecessor-version":[{"id":17250,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17248\/revisions\/17250"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17248"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}