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Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture
K Tanaka1, T Yamada, H Kikuchi
1Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Acta Neurologica Scandinavica
|September 9, 1999
Abstract:
We herein describe a Japanese family suffering from autosomal dominant limb-girdle muscular dystrophy showing a later onset and a predilection for males. All patients developed a plantar flexion contracture of the ankles when no distal muscular weakness was evident. The serum creatine kinase activity was remarkably elevated to 55 times the normal value. These clinical features suggest a novel phenotype.