Distal muscular dystrophy of the Miyoshi type

OBJECTIVE: Miyoshi myopathy is an autosomal recessive muscular dystrophy. It is characterized by distal muscle involvement, especially the gastrocnemius and soleus. The disease starts with weakness and atrophy of the calves. MATERIAL AND METHODS: Here we report on 2 patients, brother and sister, from a Turkish family. Onset of the disease was at the age of 20 and 26 years of age, respectively. In both siblings, there was an early and predominant involvement of the distal muscles of the lower limbs. Creatine kinase activity was elevated 50- to 100-fold above normal values. RESULTS: Electromyography revealed a myopathic pattern. Histology of the biceps muscles indicated some myopathic changes consistent with muscular dystrophy. Occurrence in only these 2 siblings with no other family members was indicative of an autosomal recessive inheritance. CONCLUSIONS: We describe the distinctive clinical features in 2 siblings of a Turkish family with MM as differential diagnosis and histological change.