| H00562 | |
| H番号 | H00562 |
| 名称 | ジストロフィン異常症 |
| 概要 | Duchenne muscular dystrophy (DMD) is characterized by weakness of leg, pelvic and shoulder girdle muscles starting in early childhood. Becker muscular dystrophy (BMD) is a milder variant of DMD with a better prognosis, with a mean age of onset at 11 years. X-linked dilated cardiomyopathy (XLCM) is a rare disorder with rapidly progressive cardiomyopathy but almost no skeletal muscle impairment. Absence of the dystrophin protein (DMD) and reduced levels or abnormal configuration of dystrophin (BMD) leads to membrane fragility making muscle cells susceptible to damage from contraction. Secondary increase in free radicals and activation of calcium-dependent proteases are thought to further contribute to muscle degeneration. |
| カテゴリ | 神経系疾患; 筋骨格疾患 |
| ネットワーク | - |
| 病因遺伝子 | DMD [HSA:1756] [KO:K10366] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8C70 ICD-10: G71.0 MeSH: D020388 OMIM: 310200 300376 302045 |
| 文献 | PMID:20627570 著者 Hermans MC, Pinto YM, Merkies IS, de Die-Smulders CE, Crijns HJ, Faber CG タイトル Hereditary muscular dystrophies and the heart. 雑誌 Neuromuscul Disord 20:479-92 (2010) DOI:10.1016/j.nmd.2010.04.008 PMID:11879882 著者 Emery AE タイトル The muscular dystrophies. 雑誌 Lancet 359:687-95 (2002) DOI:10.1016/S0140-6736(02)07815-7 |