Bethlem Myopathy

Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

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.