Distal muscular dystrophy of Miyoshi type |
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| Authors: | P Flachenecker R Kiefer M Naumann M Handwerker H Reichmann |
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| Institution: | (1) Department of Neurology, University of Würzburg, Josef-Schneider-Strasse 11, D-97080 Würzburg, Germany Tel.: +49-931/201-2621, Fax: +49-931/201-3489, DE;(2) Department of Neuroradiology, University of Würzburg, Würzburg, Germany, DE;(3) Department of Neurology, University of Dresden, Dresden, Germany, DE |
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| Abstract: | Miyoshi myopathy (MM) is a rare distal myopathy that mainly occurs in Japan. And that is characterized by prominent involvement
of the gastrocnemius muscles. Here we report two patients, brother and sister, from a German family. Onset of the disease
was at the age of 20 and 22 years, respectively. In both siblings, there was an early and predominant involvement of the gastrocnemius
muscles. Creatine kinase activity was elevated 37- to 95-fold above normal. Electromyography revealed fibrillations, positive
sharp waves and a myopathic pattern, particularly in the distal muscles of the lower limbs. Histology of the gastrocnemius
muscles showed myopathic changes consistent with muscular dystrophy. Occurrence in these two siblings but in no other family
members was indicative of an autosomal-recessive inheritance. Our report indicates that MM may also be found in Germany, and
that it should be considered in the differential diagnosis of distal myopathies.
Received: 25 April 1996 Received in revised form: 26 July 1996 Accepted: 26 August 1996 |
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| Keywords: | Distal myopathy Muscular dystrophy Miyoshi myopathy Muscle biopsy Magnetic resonance imaging |
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