OBECTIVE: To investigate the clinical and pathological features of progressive muscular dystrophy (PMD) in children and to provide help for the early and accurate diagnosis of PMD. METHODS: Retrospective analysis was performed on the clinical data of 99 hospitalized children with PMD, including clinical manifestations, age of onset, family history, creatase, electromyogram (EMG) and pathological changes of muscles. RESULTS: Of the 99 children with PMD, the age of onset was 0.5-14.5 (4.7±3.1) years. Eleven cases (11%) had a family history of PMD. Twenty-six (26%) were misdiagnosed as other diseases. All patients presented with muscle weakness when seeing the doctor, and 66 (67%) of them had muscle atrophy and/or hypertrophy. All patients had elevated creatine kinase (CK) levels. The 2-7-year-old group (n=51) had a mean CK level of 9965±8876 U/L, and the 7-15-year-old group (n=48) had a mean CK level of 5110±4498 U/L, with a significant difference between the two groups (P<0.01). The EMG examination performed on 66 patients showed that 54 cases (82%) had myogenic damage and 10 cases (15%) had neurogenic damage. Light microscopy revealed coexistence of atrophy and hypertrophy of muscle fibers, hyaline degeneration and granular degeneration. Electron microscopy showed that muscle fibers were different in thickness, some atrophic or hypertrophic; muscle cell nuclei moved inwardly, myofilaments dissolved and disappeared mildly under the sarcolemma, there were scattered melting lesions within muscle fibers, the numbers of glycogen granules and mitochondria increased, mild hyperplasia and expansion of sarcoplasmic reticulum were seen, and a small number of muscle fibers had necrosis. CONCLUSIONS: Weakness of both lower extremities remains the main reason for PMD patients seeing the doctor. CK is the main laboratory indicator for diagnosis of PMD. PMD is mainly manifested as myogenic damage in the early stage and may be accompanied by neurogenic damage in the late stage, according to the EMG examination. With a high misdiagnosis rate, PMD may be misdiagnosed as many other diseases. Pathological examination under light microscope and electron microscope is the main means for confirming a PMD diagnosis.