A DANISH FAMILY WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE

We describe a Danish family of five generations showing a slowly progr essive autosomal dominant limb-girdle myopathy with onset in early chi ldhood. Three patients from two generations were examined and showed w eakness predominantly of the proximal muscles of upper and lower extre mities. Early contractures of wrist, tight heel cords, metacarpophalan geal and interphalangeal joints were present. Walking ability was part ly preserved. Serum creatine kinase activity was normal or slightly el evated. EMG and biopsy showed mildly myopathic changes. Magnetic reson ance images of the thigh showed severe atrophy of all compartments but with musculus semimembranosus, sartorius, and gracilis relatively pre served. This myopathy has a clinical picture similar to the Bethlem my opathy.