Abstract
A 7-year-old boy, who was noted to be a slow runner at the age of 2 years, had progressive
muscle weakness and atrophy, preferentially affecting distal muscles. At 3 years of
age, he had scoliosis and difficulty in standing on tip-toe. Serum creatine kinase
was 1074 IU/l. Muscle CT scan showed low-density areas in the lower legs and upper arms, but
predominantly in the gastrocnemius and soleus muscles. Biopsy of the biceps brachii
muscle showed moderate dystrophic changes with normal dysferlin expression on immunohistochemical
and western blot analyses. Although muscle involvement mimicked that seen in Miyoshi
myopathy (MM), the very early onset of the disease and scoliosis were quite unusual
for MM. We, therefore, made the diagnosis of early onset dysferlin-positive distal
muscular dystrophy, probably a new type of distal muscular dystrophy.
Keywords
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Article info
Publication history
Accepted:
February 3,
2005
Received:
November 26,
2004
Identification
Copyright
© 2005 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
