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目的探讨面肩肱型肌营养不良的临床特点。方法对2个家系患者的临床资料进行分析。结果患者起病多在青春期,男性多于女性,病情呈进行性发展,临床主要表现为肌萎缩和肌无力主要累及面肌、肩带肌和上臂肌群,常见翼状肩;肌电图显示肌源性损害,肌肉活检表现肌病特征。结论该病临床异质性很高,无特殊有效治疗,预后相对良好。
Objective To investigate the clinical features of facial and shoulder humerus muscular dystrophy. Methods The clinical data of 2 pedigrees were analyzed. Results The onset of the disease was mostly in adolescence. There were more males than females and the disease developed progressively. The main clinical manifestations were muscular atrophy and muscular weakness mainly involving the facial muscles, shoulder muscles and upper arm muscles, common wing shoulders; Derived damage, muscle biopsy performance characteristics of myopathy. Conclusion The clinical heterogeneity of the disease is high, no special effective treatment, the prognosis is relatively good.