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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。
Objective To summarize the clinical features and gene diagnosis of patients with Duchenne muscular dystrophy (DMD / BMD) to improve their understanding and diagnosis of DMD / BMD. Methods The clinical features of 40 patients with DMD / BMD were summarized, including serum creatinine, EMG and muscle biopsy, and 18 pairs of primer multiplex PCR were used to diagnose Dystrophin gene deletion. Results DMD / BMD was an insidious onset in childhood, slowly progressive exacerbation, characterized by muscle weakness and muscle atrophy. It mainly selectively infringed on the proximal muscles of the extremities, pelvic muscles and belt muscles, Patients may have mental retardation and myocardial damage; abnormal levels of serum creatinine increased, myogenic ECG showed muscle damage, muscle biopsy was myopathy features. Exon fragment deletion was found in 27 cases of gene diagnosis and no deletion was detected in 13 cases. Conclusion The clinical features of DMD / BMD can be helpful to improve the diagnosis of DMD / BMD. Multiplex PCR is a simple and rapid diagnostic method to diagnose DMD / BMD patients.