Barohn R J, Miller R G, Griggs R C
Department of Medicine, University of Texas Health Science Center, San Antonio 78284.
Neurology. 1991 Sep;41(9):1365-70. doi: 10.1212/wnl.41.9.1365.
We describe five new cases of autosomal recessive distal dystrophy (Miyoshi myopathy) and emphasize the distinctive clinical and laboratory features of this unusual muscular dystrophy. Symptoms began at age 15 to 25, the gastrocnemius muscles were selectively involved, and creatine kinase was elevated more than 10 times normal. The EMG showed abundant brief motor units with numerous fibrillations. Dystrophic features without vacuoles were best seen in the biceps femoris muscle. Asymptomatic creatine kinase elevation was present years prior to the development of weakness. The disorder appears to be inherited in an autosomal recessive pattern. Miyoshi myopathy can be distinguished from other distal muscular dystrophies. We propose a new classification for the distal muscular dystrophies.
我们描述了5例常染色体隐性遗传性远端肌营养不良（三好肌病）的新病例，并强调了这种不寻常的肌营养不良独特的临床和实验室特征。症状始于15至25岁，腓肠肌被选择性累及，肌酸激酶升高超过正常水平的10倍。肌电图显示有大量短时限运动单位及众多纤颤电位。在股二头肌中最易观察到无空泡的营养不良性改变。在肌无力出现前数年就存在无症状性肌酸激酶升高。该疾病似乎以常染色体隐性模式遗传。三好肌病可与其他远端型肌营养不良相鉴别。我们提出了一种新的远端型肌营养不良分类方法。
