ASYMPTOMATIC FAMILIAL HYPERCKEMIA ASSOCIATED WITH DESMIN ACCUMULATIONIN SKELETAL-MUSCLE

We describe a family, two brothers and their mother, who came to our o bservation because of slight to moderate hyperCKemia. The younger brot her, who had the highest CK values, was only suffering from episodic m yalgia, the other two members of the family were asymptomatic. Neurolo gical examination was normal. Both brothers underwent muscle biopsy wh ich was significant for the presence of abnormal sarcoplasmic areas of desmin accumulation. So far, desmin abnormalities have never been rep orted in patients with such a mild neuromuscular pattern. We discuss p ossible correlations between severity of clinical phenotype and degree of desmin accumulation.