{"id":121899,"date":"2026-01-07T18:16:36","date_gmt":"2026-01-07T09:16:36","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=121899"},"modified":"2026-03-03T17:41:23","modified_gmt":"2026-03-03T08:41:23","slug":"limb-girdle-muscular-dystrophy-type-2d-sgca","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2d-sgca\/","title":{"rendered":"\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30012\u578b"},"content":{"rendered":"\n

\u6982\u8981<\/strong><\/h2>\n\n\n\n

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\u75ab\u5b66<\/strong><\/h2>\n\n\n\n

LGMD\u5168\u4f53\u306e\u6709\u75c5\u7387\u306f\u7d041\u301c9\/100,000\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u4e2d\u3067SGCA\u95a2\u9023\uff08LGMD2D\uff09\u306f\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044\u75c5\u578b\u306e\u4e00\u3064\u3067\u3001\u5730\u57df\u5dee\u306f\u3042\u308b\u3082\u306e\u306eLGMD\u75c7\u4f8b\u306e\u6570\uff05\u301c\u5341\u6570\uff05\u3092\u5360\u3081\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u4e16\u754c\u5404\u5730\u3067\u6563\u767a\u4f8b\u304a\u3088\u3073\u5bb6\u65cf\u5185\u96c6\u7a4d\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n

\u539f\u56e0<\/strong><\/h2>\n\n\n\n

\u75c5\u56e0<\/strong><\/h3>\n\n\n\n

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\u907a\u4f1d\u5f62\u5f0f<\/strong><\/h3>\n\n\n\n

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\u75c7\u72b6<\/strong><\/h2>\n\n\n\n

\u4e3b\u306a\u75c7\u72b6\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n

    \n
  • \u8fd1\u4f4d\u7b4b\u512a\u4f4d\u306e\u7b4b\u529b\u4f4e\u4e0b\uff08\u592a\u3082\u3082\u3001\u6bbf\u7b4b\u3001\u80a9\u5468\u56f2\uff09<\/li>\n\n\n\n
  • \u968e\u6bb5\u6607\u964d\u56f0\u96e3\u3001\u8d70\u884c\u56f0\u96e3\u3001\u7acb\u3061\u4e0a\u304c\u308a\u52d5\u4f5c\u306e\u969c\u5bb3\uff08Gowers\u5fb4\u5019\uff09<\/li>\n\n\n\n
  • \u6b69\u884c\u6642\u306e\u52d5\u63fa\u3001\u8ee2\u5012\u3057\u3084\u3059\u3055<\/li>\n\n\n\n
  • \u9032\u884c\u306b\u4f34\u3044\u62d8\u7e2e\u3001\u5074\u5f2f\u3001\u80a9\u7532\u9aa8\u306e\u7a81\u51fa\uff08\u7ffc\u72b6\u80a9\u7532\uff09<\/li>\n\n\n\n
  • \u8840\u6e05CK\u5024\u306e\u4e0a\u6607<\/li>\n\n\n\n
  • \u5fc3\u7b4b\u969c\u5bb3\u3084\u547c\u5438\u969c\u5bb3\u306f\u6bd4\u8f03\u7684\u307e\u308c\u3060\u304c\u3001\u91cd\u75c7\u4f8b\u3067\u306f\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n

    \u77e5\u7684\u6a5f\u80fd\u969c\u5bb3\u306f\u901a\u5e38\u4f34\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n

    \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n

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      \n
    1. \u81e8\u5e8a\u8a55\u4fa1<\/strong>\uff1a\u8fd1\u4f4d\u7b4b\u512a\u4f4d\u306e\u7b4b\u529b\u4f4e\u4e0b\u3001\u5bb6\u65cf\u6b74\u3001\u9032\u884c\u6027\u7d4c\u904e<\/li>\n\n\n\n
    2. \u8840\u6db2\u691c\u67fb<\/strong>\uff1a\u8840\u6e05CK\u9ad8\u5024<\/li>\n\n\n\n
    3. \u7b4b\u753b\u50cf\u691c\u67fb\uff08MRI\uff09<\/strong>\uff1a\u7b4b\u306e\u8102\u80aa\u5909\u6027\u30fb\u840e\u7e2e\u30d1\u30bf\u30fc\u30f3\u8a55\u4fa1<\/li>\n\n\n\n
    4. \u7b4b\u751f\u691c\uff08\u88dc\u52a9\uff09<\/strong>\uff1a\u03b1-\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u306e\u514d\u75ab\u67d3\u8272\u3067\u6b20\u640d\u3092\u78ba\u8a8d<\/li>\n\n\n\n
    5. \u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1aSGCA\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u3088\u308b\u75c5\u7684\u5909\u7570\u306e\u540c\u5b9a<\/strong>\u304c\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059<\/li>\n<\/ol>\n\n\n\n

      \u6cbb\u7642<\/strong><\/h2>\n\n\n\n

      \u73fe\u6642\u70b9\u3067\u6839\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u6cbb\u7642\u306f\u652f\u6301\u7642\u6cd5\u3068\u5408\u4f75\u75c7\u4e88\u9632<\/strong>\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n

        \n
      • \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u95a2\u7bc0\u62d8\u7e2e\u4e88\u9632\u3001\u53ef\u52d5\u57df\u7dad\u6301\uff09<\/li>\n\n\n\n
      • \u88c5\u5177\u30fb\u6b69\u884c\u88dc\u52a9\u5177\u306b\u3088\u308b\u8ee2\u5012\u4e88\u9632\u30fb\u79fb\u52d5\u80fd\u529b\u7dad\u6301<\/li>\n\n\n\n
      • \u5fc3\u6a5f\u80fd\u30fb\u547c\u5438\u6a5f\u80fd\u306e\u5b9a\u671f\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/li>\n\n\n\n
      • \u75bc\u75db\u7ba1\u7406\u3001\u6574\u5f62\u5916\u79d1\u7684\u4ecb\u5165\uff08\u5fc5\u8981\u6642\uff09<\/li>\n\n\n\n
      • \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/li>\n<\/ul>\n\n\n\n

        \u8fd1\u5e74\u306f\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u5206\u5b50\u6a19\u7684\u6cbb\u7642\u306e\u7814\u7a76\u3082\u9032\u884c\u4e2d\u3067\u3059\u304c\u3001\u81e8\u5e8a\u6a19\u6e96\u6cbb\u7642\u3068\u3057\u3066\u306f\u307e\u3060\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n

        \u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n
          \n
        1. GeneReviews\u00ae<\/strong>: Sarcoglycanopathies<\/em> \u2014 \u75c5\u614b\u3001\u8a3a\u65ad\u3001\u7ba1\u7406\u306e\u7dcf\u8aac\u3002<\/li>\n\n\n\n
        2. MedlinePlus Genetics<\/strong>: Limb-girdle muscular dystrophy<\/em> \/ SGCA gene<\/em> \u2014 \u907a\u4f1d\u5b50\u6a5f\u80fd\u3068\u81e8\u5e8a\u50cf\u3002<\/li>\n\n\n\n
        3. Orphanet<\/strong>: Alpha-sarcoglycan-related limb-girdle muscular dystrophy (LGMD2D)<\/em> \u2014 \u75ab\u5b66\u30fb\u75be\u60a3\u6982\u8981\u3002<\/li>\n\n\n\n
        4. Bushby K, et al. Lancet Neurology<\/em> 2014 \u2014 LGMD\u306e\u5206\u985e\u30fb\u8a3a\u65ad\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002<\/li>\n\n\n\n
        5. Straub V, et al. Neuromuscular Disorders<\/em> 2018 \u2014 \u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc\u306e\u81e8\u5e8a\u30ec\u30d3\u30e5\u30fc\u3002<\/li>\n<\/ol>\n\n\n\n

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