进行性肌营养不良(progressive muscu lar dystrophy,PMD)是一组原发于骨骼肌的遗传性疾病,临床上以进行性肌无力,肌肉萎缩或假性肌肥大,运动障碍,血清肌酸激酶(CK)显著增高为特征。本病多为幼年起病,早期症状轻微,往往缺乏典型肌病表现,而且临床少见,常在肝功能化验检查时发现 Progressive muscu lar dystrophy (PMD) is a group of inherited disorders of primary skeletal muscle. It is clinically associated with progressive myasthenia, muscular dystrophy or pseudomyopia, dyskinesia, serum creatine kinase ( CK) was significantly increased. The disease mostly juvenile onset, early symptoms are mild, often the lack of typical myopathic performance, and clinical rare, often found in liver function tests