假性肥大型进行性肌营养不良症包括杜兴氏肌营养不良(Duchenne muscular dystrophy,DMD)和贝克氏肌营养不良(Becker muscular dystrophy,BMD)两种临床类型,二者是等位基因异质性疾病.发病率分别为活产男婴的1/3500和1/30000。其中DMD是肌营养不良症中最常见和最严重的类型,由于基因突变影响dystrophin蛋白在横纹肌组织的表达,导致肢体近端骨骼肌进行性萎缩、无力和腓肠肌假性肥大,典型表现为运动发育迟缓甚至倒退,特殊的“鸭步”步态, Pseudo-hypertrophic progressive muscular dystrophy includes two clinical types of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), both of which are allelic heterogeneity Sexually transmitted diseases The incidence rates were 1/3500 and 1/30000 for live births, respectively. Among them, DMD is the most common and severe type of muscular dystrophy. Mutations of dystrophin affect the expression of dystrophin in striated muscle tissue, lead to progressive atrophy and weakness of proximal skeletal muscle, and pseudo-gastrocnemius, typical of motor development Slow or even retrogression, special “duck step ” gait,