Bethlem-myopathie (aandoening)
ziekte van Bethlem
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.
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
PALGA thesaurus simple reference set for pathology
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermCongenitale myopathie├źn
SNOMED CT to Orphanet simple map610
SNOMED CT to ICD-10 extended map
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified