Flachenecker P, Kiefer R, Naumann M, Handwerker M, Reichmann H
Department of Neurology, University of Würzburg, Germany.
J Neurol. 1997 Jan;244(1):23-9. doi: 10.1007/pl00007726.
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.
宫下肌病（MM）是一种罕见的远端肌病，主要发生在日本。其特征是腓肠肌明显受累。本文报告了来自一个德国家庭的两名患者，兄妹二人。发病年龄分别为20岁和22岁。在这两名患者中，腓肠肌早期且主要受累。肌酸激酶活性比正常水平升高了37至95倍。肌电图显示有纤颤、正锐波和肌病样模式，尤其是在下肢远端肌肉。腓肠肌组织学显示与肌肉营养不良一致的肌病性改变。这两名患者发病而其他家庭成员未发病表明为常染色体隐性遗传。我们的报告表明，德国也可能发现宫下肌病，在远端肌病的鉴别诊断中应考虑该病。
