假肥大型肌营养不良症7例临床特征分析

目的:总结假肥大型肌营养不良症(DMD)患儿的临床特征,以提高对DMD疾病的认识及诊疗水平。方法:分析7例DMD患儿的临床表现及检查资料,包括血清肌酶、心电图、超声心动图、肌电图及肌肉活检等。结果:DMD好发于儿童,以肌无力和肌萎缩为特点,可有肌肉假性肥大;患者血清肌酶水平异常增高,心电图、超声心电图可有异常表现,肌电图示肌源性损害,肌肉活检呈肌病特征。结论:识别DMD的临床特征有助于提高对该病的诊断水平,充分认识DMD患者的肌酶改变、心脏病变、肌电图及肌活检特点对诊断该病有重要意义。

Objective：To summarize the clini- cal features of Duchenne muscular dystrophy （DMD） for accurate clinical diagnosis. Methods ： The data of clinical features, myo- cardial enzymes, electrocardiograms, echo- cardiogram, electromyography, muscle biopsy of 7 DMD Patients were comprehensively analyzed by using clinical statistical meth- ods. Results： DMD is a myopathic disorder beginning at the younger, and characterized by muscle weakness and atrophy. Pseudohypertrophy caused by fatty infiltration of muscle is common. Myocardial markers such as the level of creatine kinase（CK） was exceptionally high. Some patients had abnormal echocardiography and electrocardiogram changes, Muscle lesions were observed by electromyography and muscle biopsy. Conclusions：Recognizing the clinical features of DMD can be useful in diagnosing the dis- ease. It is very important to understand the changes of the creatine kinase, the pathological change characteristics in the cardic, the features of electromyography and muscle biopsy of DMD patients.