本文报告42例进行性肌营养不良,共分4型。2/3病例有明显家族史,平均发病年龄6.95岁。假肥大型患儿鸭行步态发生率最高(93.6%),Gower氏征占61.3%。生化检查结果因型而异,假肥大型CPK、LDH、Mb的异常率分别为87.1%、71.0%、70%。携带者筛选总检出率27.5%,其中CPK异常率24.2%,LDH异常率17.6%,≤20岁和>20岁两年龄组可疑携带者CPK、LDH的检出率均无显著性差异(p>0.05)。 This article reports 42 cases of progressive muscular dystrophy, divided into 4 types. 2/3 cases have a clear family history, the average age of onset of 6.95 years old. The incidence of ducks in ducks was highest (93.6%) and Gower’s sign was 61.3%. Biochemical test results vary by type. The abnormal rates of false-hypertrophic CPK, LDH and Mb were 87.1%, 71.0% and 70%, respectively. The overall screening rate of carriers was 27.5%. Among them, the abnormality rate of CPK was 24.2%, the abnormal rate of LDH was 17.6%. There was no significant difference in the detection rate of CPK and LDH among suspicious carriers ≤20 years and> 20 years old > 0.05).