{"id":17304,"date":"2026-01-22T02:00:14","date_gmt":"2026-01-22T02:00:14","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17304"},"modified":"2026-01-22T02:00:14","modified_gmt":"2026-01-22T02:00:14","slug":"duchenne-muscular-dystrophy-dmd","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/duchenne-muscular-dystrophy-dmd\/","title":{"rendered":"Duchenne muscular dystrophy (DMD)"},"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>DMD<\/strong><\/li>\n\n\n\n<li><strong>\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/strong><\/li>\n\n\n\n<li><strong>Dystrophinopathy\uff08\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30ce\u30d1\u30c1\u30fc\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u8d77\u56e0\u3059\u308b\u75be\u60a3\u7fa4\uff08DMD\u3001\u30d9\u30c3\u30ab\u30fc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\u306a\u3069\uff09\u306e\u7dcf\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1aBecker muscular dystrophy (BMD\uff1a\u30d9\u30c3\u30ab\u30fc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc)\n<ul class=\"wp-block-list\">\n<li>\u203bDMD\u3068\u540c\u3058\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3067\u3059\u304c\u3001\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u4e00\u90e8\u6a5f\u80fd\u3092\u6301\u3064\u72b6\u614b\u3067\u7523\u751f\u3055\u308c\u308b\u305f\u3081\u3001DMD\u3088\u308a\u3082\u75c7\u72b6\u304c\u8efd\u304f\u3001\u9032\u884c\u304c\u7de9\u3084\u304b\u306a\u30bf\u30a4\u30d7\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>X\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0921.2\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u6027\u67d3\u8272\u4f53\u3067\u3042\u308bX\u67d3\u8272\u4f53\u4e0a\u306b\u3042\u308b\u3001\u30d2\u30c8\u6700\u5927\u7d1a\u306e\u907a\u4f1d\u5b50\u3067\u3042\u308b**DMD\u907a\u4f1d\u5b50\uff08\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u907a\u4f1d\u5b50\uff09**\u306e\u5909\u7570\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\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u30bf\u30f3\u30d1\u30af\u8cea\u3011<\/p>\n\n\n\n<p>DMD\u907a\u4f1d\u5b50\u306f79\u500b\u306e\u30a8\u30af\u30bd\u30f3\uff08\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u8a2d\u8a08\u56f3\u3068\u306a\u308b\u90e8\u5206\uff09\u304b\u3089\u306a\u308b\u5de8\u5927\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5f79\u5272:<\/strong> \u7b4b\u8089\u306e\u7d30\u80de\u819c\u306e\u5185\u5074\u306b\u5b58\u5728\u3057\u3001\u7d30\u80de\u9aa8\u683c\u3068\u7d30\u80de\u5916\u30de\u30c8\u30ea\u30c3\u30af\u30b9\u3092\u7e4b\u3050\u300c\u30a2\u30f3\u30ab\u30fc\u300d\u3084\u300c\u30af\u30c3\u30b7\u30e7\u30f3\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u7b4b\u8089\u304c\u53ce\u7e2e\u30fb\u5f1b\u7de9\u3092\u7e70\u308a\u8fd4\u3059\u969b\u306e\u7269\u7406\u7684\u306a\u885d\u6483\u304b\u3089\u7d30\u80de\u819c\u3092\u5b88\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>DMD\u306b\u304a\u3051\u308b\u7570\u5e38:<\/strong> DMD\u3067\u306f\u3001\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3084\u91cd\u8907\u3001\u70b9\u5909\u7570\u306b\u3088\u308a\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u8a2d\u8a08\u56f3\u304c\u9014\u4e2d\u3067\u8aad\u3081\u306a\u304f\u306a\u308b\u300c\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\uff08\u8aad\u307f\u67a0\u306e\u305a\u308c\uff09\u300d\u304c\u8d77\u3053\u308a\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u7b4b\u8089\u5185\u306b**\u300c\u5168\u304f\u5b58\u5728\u3057\u306a\u3044\uff08\u3042\u308b\u3044\u306f\u6975\u3081\u3066\u5fae\u91cf\uff09\u300d**\u72b6\u614b\u3068\u306a\u308a\u3001\u7b4b\u7d30\u80de\u304c\u58ca\u308c\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/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>\u7537\u5150 3,500\u4eba \u301c 5,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6027\u5dee:<\/strong> X\u9023\u9396\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u3068\u3044\u3046\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u57fa\u672c\u7684\u306b\u306f<strong>\u7537\u5150<\/strong>\u306b\u306e\u307f\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5973\u6027\u4fdd\u56e0\u8005:<\/strong> \u5973\u6027\u306fX\u67d3\u8272\u4f53\u30922\u672c\u6301\u3063\u3066\u3044\u308b\u305f\u3081\u3001\u4e00\u65b9\u304c\u5909\u7570\u3057\u3066\u3044\u3066\u3082\u767a\u75c7\u3057\u306a\u3044\u300c\u4fdd\u56e0\u8005\u300d\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u7a00\u306b\u8efd\u5fae\u306a\u7b4b\u529b\u4f4e\u4e0b\u3084\u5fc3\u7b4b\u75c7\u3092\u5448\u3059\u308b\u300c\u767a\u75c7\u4fdd\u56e0\u8005\u300d\u3068\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7a81\u7136\u5909\u7570:<\/strong> \u7d043\u5206\u306e1\u306e\u75c7\u4f8b\u306f\u3001\u5bb6\u65cf\u306b\u75c5\u6b74\u304c\u306a\u3044\u300c\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09\u300d\u306b\u3088\u3063\u3066\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>DMD\u306f\u9032\u884c\u6027\u306e\u75be\u60a3\u3067\u3042\u308a\u3001\u5e74\u9f62\u3068\u3068\u3082\u306b\u75c7\u72b6\u304c\u5909\u5316\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u7b4b\u8089\u306e\u58ca\u6b7b\u3068\u518d\u751f\u3092\u7e70\u308a\u8fd4\u3057\u305f\u7d50\u679c\u3001\u6700\u7d42\u7684\u306b\u306f\u7b4b\u8089\u7d44\u7e54\u304c\u8102\u80aa\u3084\u7dda\u7dad\u306b\u7f6e\u304d\u63db\u308f\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5e7c\u5150\u671f\uff08\u767a\u75c7\u301c5\u6b73\u9803\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u306e\u9045\u308c:<\/strong> \u6b69\u304d\u59cb\u3081\uff08\u72ec\u6b69\u7372\u5f97\uff09\u304c1\u6b736\u30f6\u6708\u4ee5\u964d\u3068\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767b\u6500\u6027\u8d77\u7acb\uff08Gowers&#8217; sign\uff1a\u30ac\u30ef\u30fc\u30ba\u5fb4\u5019\uff09:<\/strong> \u5e8a\u304b\u3089\u7acb\u3061\u4e0a\u304c\u308b\u969b\u3001\u7b4b\u529b\u304c\u5f31\u3044\u305f\u3081\u306b\u81ea\u5206\u306e\u819d\u3084\u592a\u3082\u3082\u3092\u624b\u306b\u4f1d\u3063\u3066\u9019\u3044\u4e0a\u304c\u308b\u3088\u3046\u306b\u3057\u3066\u7acb\u3061\u4e0a\u304c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u52d5\u63fa\u6027\u6b69\u884c\uff08\u30a2\u30d2\u30eb\u6b69\u884c\uff09:<\/strong> \u9aa8\u76e4\u5468\u308a\u306e\u7b4b\u529b\u304c\u5f31\u3044\u305f\u3081\u3001\u4f53\u3092\u5de6\u53f3\u306b\u63fa\u3089\u3057\u306a\u304c\u3089\u6b69\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8153\u8179\u7b4b\u306e\u4eee\u6027\u80a5\u5927:<\/strong> \u3075\u304f\u3089\u306f\u304e\u306e\u7b4b\u8089\u304c\u592a\u304f\u898b\u3048\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u7b4b\u8089\u304c\u5897\u3048\u305f\u306e\u3067\u306f\u306a\u304f\u3001\u8102\u80aa\u3084\u7d50\u5408\u7d44\u7e54\u306b\u7f6e\u304d\u63db\u308f\u3063\u3066\u3044\u308b\u305f\u3081\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5b66\u7ae5\u671f\uff086\u6b73\u301c12\u6b73\u9803\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b69\u884c\u80fd\u529b\u306e\u4f4e\u4e0b:<\/strong> \u968e\u6bb5\u306e\u4e0a\u308a\u4e0b\u308a\u304c\u56f0\u96e3\u306b\u306a\u308a\u3001\u5e73\u5730\u3067\u3082\u8ee2\u5012\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c16\u8db3\uff08\u305b\u3093\u305d\u304f\uff09:<\/strong> \u30a2\u30ad\u30ec\u30b9\u8171\u304c\u77ed\u7e2e\u3057\u3001\u304b\u304b\u3068\u304c\u5730\u9762\u306b\u3064\u304b\u305a\u306b\u3064\u307e\u5148\u7acb\u3061\u3067\u6b69\u304f\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b69\u884c\u4e0d\u80fd:<\/strong> 10\u6b73\u301c12\u6b73\u9803\u306b\u306f\u81ea\u529b\u6b69\u884c\u304c\u56f0\u96e3\u306b\u306a\u308a\u3001\u8eca\u6905\u5b50\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u601d\u6625\u671f\u301c\u9752\u5e74\u671f\uff0813\u6b73\u4ee5\u964d\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0a\u80a2\u30fb\u4f53\u5e79\u306e\u7b4b\u529b\u4f4e\u4e0b:<\/strong> \u98df\u4e8b\u3084\u7740\u66ff\u3048\u306a\u3069\u306e\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff08ADL\uff09\u306b\u4ecb\u52a9\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u810a\u67f1\u5074\u5f2f\u75c7:<\/strong> \u4f53\u5e79\u306e\u7b4b\u529b\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u80cc\u9aa8\u304cS\u5b57\u306b\u66f2\u304c\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u547c\u5438\u6a5f\u80fd\u3084\u5185\u81d3\u3078\u306e\u5727\u8feb\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u547c\u5438\u4e0d\u5168:<\/strong> \u547c\u5438\u7b4b\uff08\u6a2a\u9694\u819c\u306a\u3069\uff09\u306e\u4f4e\u4e0b\u306b\u3088\u308a\u3001\u81ea\u767a\u547c\u5438\u304c\u4e0d\u5341\u5206\u306b\u306a\u308a\u307e\u3059\u3002\u591c\u9593\u306e\u7761\u7720\u6642\u7121\u547c\u5438\u304b\u3089\u59cb\u307e\u308a\u3001\u3084\u304c\u3066\u65e5\u4e2d\u3082\u4eba\u5de5\u547c\u5438\u5668\u306e\u88dc\u52a9\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u7b4b\u75c7:<\/strong> \u5fc3\u81d3\u3082\u7b4b\u8089\u3067\u3042\u308b\u305f\u3081\u300110\u4ee3\u5f8c\u534a\u304b\u3089\u5fc3\u6a5f\u80fd\u306e\u4f4e\u4e0b\uff08\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff09\u3084\u4e0d\u6574\u8108\u304c\u73fe\u308c\u307e\u3059\u3002\u3053\u308c\u304c\u73fe\u5728\u306eDMD\u306b\u304a\u3051\u308b\u4e3b\u8981\u306a\u6b7b\u56e0\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u77e5\u7684\u30fb\u884c\u52d5\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>DMD\u306e\u60a3\u8005\u3055\u3093\u306e\u7d0430%\u306b\u3001\u8efd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3084\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3001ADHD\u3001\u5b66\u7fd2\u969c\u5bb3\u306a\u3069\u306e\u795e\u7d4c\u767a\u9054\u75c7\u304c\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u304c\u8133\u5185\u3067\u3082\u4e00\u90e8\u50cd\u3044\u3066\u3044\u308b\u305f\u3081\u3068\u8003\u3048\u3089\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>DMD\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u306e\u6b20\u640d<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b20\u5931\uff08\u7d0460-70%\uff09:<\/strong> 1\u3064\u307e\u305f\u306f\u8907\u6570\u306e\u30a8\u30af\u30bd\u30f3\u304c\u629c\u3051\u843d\u3061\u308b\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907\uff08\u7d045-10%\uff09:<\/strong> \u7279\u5b9a\u306e\u30a8\u30af\u30bd\u30f3\u304c\u7e70\u308a\u8fd4\u3055\u308c\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5fae\u5c0f\u5909\u7570\uff08\u7d0420-30%\uff09:<\/strong> 1\u6587\u5b57\u3060\u3051\u306e\u66f8\u304d\u63db\u3048\uff08\u70b9\u5909\u7570\uff09\u3084\u5c0f\u3055\u306a\u633f\u5165\u30fb\u6b20\u5931\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>\u81e8\u5e8a\u75c7\u72b6\uff08\u30ac\u30ef\u30fc\u30ba\u5fb4\u5019\u306a\u3069\uff09\u304b\u3089\u7591\u3044\u3001\u4ee5\u4e0b\u306e\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u6db2\u691c\u67fb\uff08CK\u5024\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u6e05\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff08CK\/CPK\uff09\u306e\u8457\u660e\u306a\u9ad8\u5024:<\/strong> \u7b4b\u8089\u304c\u58ca\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u6b63\u5e38\u306e\u6570\u5341\u500d\u301c\u767e\u500d\u4ee5\u4e0a\u306e\u5024\uff08\u6570\u5343\u301c\u6570\u4e07\uff09\u3092\u793a\u3057\u307e\u3059\u3002\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>MLPA\u6cd5:<\/strong> \u6b20\u5931\u3084\u91cd\u8907\u3092\u8abf\u3079\u308b\u4e3b\u8981\u306a\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc:<\/strong> MLPA\u3067\u5224\u660e\u3057\u306a\u3044\u5fae\u5c0f\u5909\u7570\u3092\u7279\u5b9a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u751f\u691c\uff08\u73fe\u5728\u306f\u6e1b\u5c11\u50be\u5411\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u8089\u306e\u4e00\u90e8\u3092\u63a1\u53d6\u3057\u3001\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u67d3\u8272\u3092\u884c\u3044\u307e\u3059\u3002\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u304c\u5168\u304f\u67d3\u307e\u3089\u306a\u3044\u3053\u3068\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u6a5f\u80fd\u691c\u67fb\u30fb\u547c\u5438\u6a5f\u80fd\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5408\u4f75\u75c7\u306e\u8a55\u4fa1\u306e\u305f\u3081\u306b\u5b9a\u671f\u7684\u306b\u884c\u308f\u308c\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>\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001DMD\u3092\u5b8c\u5168\u306b\u6cbb\u7652\u3055\u305b\u308b\u65b9\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001**\u300c\u75c5\u6c17\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u6cbb\u7642\u300d<strong>\u3068<\/strong>\u300c\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u300d**\u306f\u98db\u8e8d\u7684\u306b\u9032\u6b69\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u85ac\u7269\u7642\u6cd5<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u526f\u814e\u76ae\u8cea\u30b9\u30c6\u30ed\u30a4\u30c9\uff08\u30d7\u30ec\u30c9\u30cb\u30be\u30ed\u30f3\u3001\u30c7\u30d5\u30e9\u30b6\u30b3\u30fc\u30c8\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6a19\u6e96\u6cbb\u7642<\/strong>\u3067\u3059\u3002\u7b4b\u529b\u306e\u7dad\u6301\u3001\u6b69\u884c\u53ef\u80fd\u671f\u9593\u306e\u5ef6\u9577\uff081\u301c2\u5e74\u4ee5\u4e0a\uff09\u3001\u547c\u5438\u30fb\u5fc3\u6a5f\u80fd\u306e\u4fdd\u8b77\u3001\u810a\u67f1\u5074\u5f2f\u306e\u6291\u5236\u306b\u52b9\u679c\u304c\u3042\u308a\u307e\u3059\u3002\u526f\u4f5c\u7528\uff08\u80a5\u6e80\u3001\u9aa8\u7c97\u9b06\u75c7\u3001\u4f4e\u8eab\u9577\u306a\u3069\uff09\u306e\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6838\u9178\u533b\u85ac\uff08\u30a8\u30af\u30bd\u30f3\u30b9\u30ad\u30c3\u30d7\u7642\u6cd5\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>**\u30d3\u30eb\u30c8\u30e9\u30eb\u30bb\u30f3\uff08\u30d3\u30eb\u30c6\u30d7\u30bd\uff09**\u306a\u3069\u3002\u7279\u5b9a\u306e\u6b20\u5931\u30d1\u30bf\u30fc\u30f3\uff08\u4f8b\uff1a\u30a8\u30af\u30bd\u30f344, 45, 51, 53\u306e\u6b20\u5931\u306b\u5bfe\u5fdc\uff09\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u306b\u5bfe\u3057\u3001\u8aad\u307f\u98db\u3070\u3057\uff08\u30b9\u30ad\u30c3\u30d7\uff09\u3092\u8a98\u5c0e\u3057\u3066\u300c\u30d9\u30c3\u30ab\u30fc\u578b\u300d\u306e\u3088\u3046\u306a\u90e8\u5206\u7684\u306b\u6a5f\u80fd\u3059\u308b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u3092\u4f5c\u3089\u305b\u308b\u6cbb\u7642\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u4fdd\u8b77\u85ac:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30a8\u30ca\u30e9\u30d7\u30ea\u30eb\uff08ACE\u963b\u5bb3\u85ac\uff09\u3084\u03b2\u906e\u65ad\u85ac\u306a\u3069\u3092\u3001\u5fc3\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3059\u308b\u524d\u306e\u65e9\u671f\u304b\u3089\u6295\u4e0e\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u30fb\u88c5\u5177<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b9\u30c8\u30ec\u30c3\u30c1:<\/strong> \u95a2\u7bc0\u304c\u56fa\u307e\u308b\uff08\u62d8\u7e2e\uff09\u306e\u3092\u9632\u3050\u305f\u3081\u3001\u6bce\u65e5\u306e\u30a2\u30ad\u30ec\u30b9\u8171\u3084\u95a2\u7bc0\u306e\u30b9\u30c8\u30ec\u30c3\u30c1\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u591c\u9593\u7528\u88c5\u5177:<\/strong> \u5bdd\u3066\u3044\u308b\u9593\u306b\u8db3\u9996\u304c\u56fa\u307e\u3089\u306a\u3044\u3088\u3046\u306b\u56fa\u5b9a\u3059\u308b\u88c5\u5177\uff08\u9577\u4e0b\u80a2\u88c5\u5177\u306a\u3069\uff09\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8eca\u6905\u5b50\u30fb\u798f\u7949\u6a5f\u5668:<\/strong> QOL\u5411\u4e0a\u306e\u305f\u3081\u3001\u96fb\u52d5\u8eca\u6905\u5b50\u3084\u74b0\u5883\u5236\u5fa1\u88c5\u7f6e\u3092\u5c0e\u5165\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u547c\u5438\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u975e\u4fb5\u8972\u7684\u967d\u5727\u63db\u6c17\uff08NPPV\uff09:<\/strong> \u9f3b\u30de\u30b9\u30af\u3092\u7528\u3044\u3066\u591c\u9593\u306e\u547c\u5438\u3092\u52a9\u3051\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u5bff\u547d\u304c\u5927\u5e45\u306b\u5ef6\u3073\u307e\u3057\u305f\u3002<\/li>\n\n\n\n<li><strong>\u6392\u75f0\u88dc\u52a9\u88c5\u7f6e\uff08\u30ab\u30d5\u30a2\u30b7\u30b9\u30c8\uff09:<\/strong> \u54b3\u3092\u3059\u308b\u529b\u304c\u5f31\u307e\u3063\u305f\u969b\u306b\u3001\u6a5f\u68b0\u7684\u306b\u75f0\u3092\u51fa\u3059\u306e\u3092\u52a9\u3051\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u5b50\u6cbb\u7642\uff08\u6700\u65b0\u306e\u5c55\u671b\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30fb\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u907a\u4f1d\u5b50\u6cbb\u7642:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5de8\u5927\u306a\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u907a\u4f1d\u5b50\u3092\u77ed\u7e2e\u3057\u3001\u30a6\u30a4\u30eb\u30b9\u30d9\u30af\u30bf\u30fc\u3092\u7528\u3044\u3066\u5168\u8eab\u306e\u7b4b\u8089\u306b\u5c4a\u3051\u308b\u6cbb\u7642\u3067\u3059\u3002\u7c73\u56fd\u306a\u3069\u3067\u4e00\u90e8\u627f\u8a8d\u30fb\u5b9f\u65bd\u304c\u59cb\u307e\u3063\u3066\u304a\u308a\u3001\u65e5\u672c\u3067\u3082\u6cbb\u9a13\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<p>\u304b\u3064\u3066\u306f20\u6b73\u524d\u5f8c\u3067\u4ea1\u304f\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u75be\u60a3\u3067\u3057\u305f\u304c\u3001\u30b9\u30c6\u30ed\u30a4\u30c9\u7642\u6cd5\u3001\u5fc3\u4fdd\u8b77\u85ac\u3001\u547c\u5438\u7ba1\u7406\uff08NPPV\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u73fe\u5728\u306f<strong>30\u4ee3\u301c40\u4ee3<\/strong>\u307e\u3067\u5b58\u547d\u3059\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002\u793e\u4f1a\u4eba\u3068\u3057\u3066\u6d3b\u52d5\u3057\u305f\u308a\u3001\u5bb6\u5ead\u3092\u6301\u3063\u305f\u308a\u3059\u308b\u60a3\u8005\u3055\u3093\u3082\u3044\u3089\u3063\u3057\u3083\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>Duchenne muscular dystrophy (DMD) \u306f\u3001\u7b4b\u8089\u3092\u5b88\u308b\u300c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u4f5c\u3089\u308c\u306a\u3044\u3053\u3068\u3067\u3001\u5168\u8eab\u306e\u7b4b\u8089\u304c\u5f90\u3005\u306b\u5f31\u304f\u306a\u3063\u3066\u3044\u304f\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u7b4b\u8089\u304c\u5f31\u304f\u306a\u308b\u300d\u3068\u3044\u3046\u73fe\u5b9f\u306b\u3001\u3054\u672c\u4eba\u3084\u3054\u5bb6\u65cf\u306f\u5927\u304d\u306a\u4e0d\u5b89\u3092\u62b1\u304b\u308c\u308b\u3053\u3068\u3067\u3057\u3087\u3046\u3002\u3057\u304b\u3057\u3001\u4eca\u306e\u533b\u7642\u306f\u300c\u305f\u3060\u898b\u5b88\u308b\u300d\u3060\u3051\u306e\u6642\u4ee3\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u30b9\u30c6\u30ed\u30a4\u30c9\u6cbb\u7642\u3084\u65b0\u3057\u3044\u6838\u9178\u533b\u85ac\u3001\u305d\u3057\u3066\u9032\u5316\u3057\u7d9a\u3051\u308b\u547c\u5438\u30fb\u5fc3\u81d3\u306e\u7ba1\u7406\u6280\u8853\u306b\u3088\u308a\u3001\u75c5\u6c17\u306e\u9032\u884c\u3092\u7de9\u3084\u304b\u306b\u3057\u3001\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u9577\u304f\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u3068\u3044\u3046\u6839\u672c\u7684\u306a\u6cbb\u7642\u3078\u306e\u6249\u3082\u958b\u304d\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u5207\u306a\u306e\u306f\u3001\u65e9\u671f\u306b\u5c02\u9580\u533b\uff08\u795e\u7d4c\u5185\u79d1\u30fb\u5c0f\u5150\u79d1\uff09\u3068\u7e4b\u304c\u308a\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3084\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3092\u6700\u5927\u9650\u306b\u6d3b\u7528\u3057\u306a\u304c\u3089\u3001\u305d\u306e\u6642\u3005\u306e\u30d9\u30b9\u30c8\u306a\u751f\u6d3b\u74b0\u5883\u3092\u6574\u3048\u3066\u3044\u304f\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>DMD\u306e\u5b50\u4f9b\u305f\u3061\u306f\u3001\u4f53\u306f\u4e0d\u81ea\u7531\u306b\u306a\u3063\u3066\u3082\u3001\u8c4a\u304b\u306a\u77e5\u6027\u3068\u5fc3\u3092\u6301\u3061\u3001\u793e\u4f1a\u306e\u4e00\u54e1\u3068\u3057\u3066\u8f1d\u304f\u529b\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u591a\u8077\u7a2e\u306e\u533b\u7642\u30c1\u30fc\u30e0\u3068\u624b\u3092\u53d6\u308a\u5408\u3044\u3001\u304a\u5b50\u69d8\u306e\u672a\u6765\u3092\u5171\u306b\u652f\u3048\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>Duchenne, G. B.<\/strong> (1868). <em>Recherches sur le paralyse musculaire pseudohypertrophique ou paralyse myosclerosique.<\/em> (DMD\u3092\u521d\u3081\u3066\u8a73\u7d30\u306b\u8a18\u8ff0\u3057\u305f\u6b74\u53f2\u7684\u6587\u732e)<\/li>\n\n\n\n<li><strong>Hoffman, E. P., et al.<\/strong> (1987). <em>Dystrophin: the protein product of the Duchenne muscular dystrophy locus.<\/em> Cell. (\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u7523\u7269\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u3092\u7279\u5b9a\u3057\u305f\u8a18\u5ff5\u7891\u7684\u8ad6\u6587)<\/li>\n\n\n\n<li><strong>Birnkrant, D. J., et al.<\/strong> (2018). <em>Diagnosis and management of Duchenne muscular dystrophy, part 1, 2, 3.<\/em> The Lancet Neurology. (\u56fd\u969b\u7684\u306a\u6700\u65b0\u8a3a\u7642\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3)<\/li>\n\n\n\n<li><strong>\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a \/ \u65e5\u672c\u5c0f\u5150\u795e\u7d4c\u5b66\u4f1a<\/strong>: <em>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u8a3a\u7642\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3 2024<\/em>. (\u56fd\u5185\u306e\u6a19\u6e96\u7684\u306a\u8a3a\u7642\u6307\u91dd)<\/li>\n\n\n\n<li><strong>Clemens, P. R., et al.<\/strong> (2020). <em>Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy.<\/em> JAMA Neurology. (\u6838\u9178\u533b\u85ac\u306e\u6709\u52b9\u6027\u306b\u95a2\u3059\u308b\u7814\u7a76)<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Dystrophinopathies (DMD, BMD)<\/em>. (NCBI). (\u8a3a\u65ad\u30fb\u7ba1\u7406\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u6700\u65b0\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9)<\/li>\n\n\n\n<li><strong>Muscle Study Group \/ TREAT-NMD<\/strong>: <em>Standard of care for DMD<\/em>. (\u4e16\u754c\u7684\u306a\u30b1\u30a2\u57fa\u6e96)<\/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-17304","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\/17304","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\/17304\/revisions"}],"predecessor-version":[{"id":17305,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17304\/revisions\/17305"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17304"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}