Abstract: Objective To analyze the clinical characteristics of progressive muscular dystrophy (PMD) and discuss the values of serum creatine kinase, electromyogram, muscular pathology and immunohistochemistry in diagnosis of PMD, in order to improve the diagnosis skill. Methods The clinical characteristics, serum creatine kinase electromyogram, genetic analysis and pathological data of 25 children confirmed as PMD were analyzed retrospectively, in order to explore the causes of misdiagnosis. Results All 25 children were all with occult onset mostly in their childhood, and without typical myopathy manifestations at early stage. Due to their abnormal ALT, patients were misdiagnosed as viral hepatitis and treated in liver department. The period from onset to diagnoses was one month to 3 years. Conclusions If we encounter pediatric patients without obvious incentive but with sustained abnormal liver function and poor efficacy in liver protection treatment, the possibility of PMD should be taken into account. Examinations such as CK, genetic detection or electromyogram may contribute to early diagnosis and avoiding misdiagnosis.