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Bethlem myopathy
Disease definition
Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.
ORPHA:610
Classification level: DisorderSummary
Epidemiology
To date, fewer than 100 cases have been reported in the literature, thus illustrating its rarity.
Clinical description
The clinical features do not differ markedly from those of other mild forms of progressive muscular dystrophy with the exception of finger contractures which are sometimes suggestive of the diagnosis.
Etiology
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.
Diagnostic methods
Creatine kinase (CK) levels and histological findings are not conclusive.
Management and treatment
Treatment remains purely supportive.
Detailed information
Article for general public
Professionals
- Anesthesia guidelines
- English (2015, pdf)
- Español (2015, pdf)
- Clinical genetics review
- English (2012)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.