假肥大型肌营养不良症40例临床特征与基因诊断

目的对假肥大型肌营养不良症（DMD／BMD）患者总结其临床特征并进行基因诊断，以提高对DMD／BMD疾病的认识及诊断水平。方法对40例DMD／BMD患者临床特征进行总结包括临床表现、血清肌酶、肌电图及肌肉活检等，并应用18对引物多重PCR的方法对其进行Dystrophin基因缺失诊断。结果DMD／BMD为儿童期隐匿起病、缓慢进行性加重，以肌无力和肌萎缩为特点，主要选择性侵犯四肢近端肌、盆带肌、腰带肌等，可有肌肉假性肥大，有些患者可有智能减退和心肌损害；血清肌酶水平异常增高，肌电图示肌源性损害，肌肉活检呈肌病特征。基因诊断27例存在外显子片段缺失，13例未检测到缺失。结论识别DMD／BMD的临床特征有助于提高对其的诊断水平，多重PCR作为一种简便快速的诊断方法可对DMD／BMD患者进行基因诊断。

Clinical features and gene diagnosis of Duchenne/Becker muscular dystrophy

Objective To summarize clinical features of Duchenne/Becker muscular dystrophy （DMD/ BMD） and perform gene diagnosis for accurate diagnosis. Methods Clinical features of forty cases of DMD/ BMD were summarized. These cases were screened with multiplex-PCR （mPCR） using eighteen pairs of primers. Results DMD/BMD is a myopathic disorder beginning at younger, slowly progressive, and characterized by muscle weakness and wasting. Weakness is most pronounced in the proximal lower extremities. Pseudohypertrophy of the calves caused by fatty infiltration of muscle is common. Mental retardation is a frequent accompaniment, and the heart is involved late in the course. The level of serum ereatine kinase was exceptionally high. Muscle lesions were observed by eleetromyography and muscle biopsy. The results of gene diagnosis in forty cases of DMD/BMD patients showed that different exon deletions were detected in twent-seven cases, thirteen were not. Conclusions Recognizing clinical features of DMD/BMD can be usefue in diagnosing the disease. It is feasible to perform gene diagnosis for DMD/BMD by mPCR.