| Bethlem myopathy (disorder) | | Bethlem myopathy | | Benign autosomal dominant myopathy
| | A benign autosomal dominant form of slowly progressive muscular dystrophy. To date, fewer than 100 cases have been reported in the literature, thus illustrating its rarity. The clinical features do not differ markedly from those of other mild forms of progressive muscular dystrophy with the exception of finger contractures that are sometimes suggestive of the diagnosis. Creatine kinase levels and histological findings are not conclusive. Mutations in one of the three subunits of collagen VI are responsible for the disease. Molecular studies are however hampered by the size and expression pattern of the genes. Treatment remains purely supportive. | | Bethlem-myopathie | | ziekte van Bethlem
bethlemmyopathie
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| | Id | 718572004 | | Status | Primitive |
| PALGA thesaurus simple reference set for pathology |
| Dutch rare neuromuscular disorders simple reference set |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | Target | G71.0 | | Rule | TRUE | | Advice | ALWAYS G71.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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