| H00562 | |
| H number | H00562 |
| Name | Dystrophinopathies |
| Description | 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. |
| Category | Nervous system disease; Musculoskeletal disease |
| Network | - |
| Gene | DMD [HSA:1756] [KO:K10366] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C70 ICD-10: G71.0 MeSH: D020388 OMIM: 310200 300376 302045 |
| Reference | PMID:20627570 AUTHORS Hermans MC, Pinto YM, Merkies IS, de Die-Smulders CE, Crijns HJ, Faber CG TITLE Hereditary muscular dystrophies and the heart. JOURNAL Neuromuscul Disord 20:479-92 (2010) DOI:10.1016/j.nmd.2010.04.008 PMID:11879882 AUTHORS Emery AE TITLE The muscular dystrophies. JOURNAL Lancet 359:687-95 (2002) DOI:10.1016/S0140-6736(02)07815-7 |