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Emery-Dreifuss 型肌营养不良具有以下五个显著特征:(1)早期发生明显的挛缩;(2)肱腓肌萎缩;(3)儿童期起病,病程进展缓慢;(4)心脏传导障碍;(5)X 连锁遗传。作者报告两例具有与该病表型综合征相似而为常染色体显性遗传的病例。例1:男,23岁。3岁时即感无力,症状呈缓慢进行性加重。行走时以足尖着地,基底宽,有轻度骨盆摇晃。幼时起即有肘部屈肌挛缩,5岁时出
Emery-Dreifuss muscular dystrophy has the following five distinguishing features: (1) significant early contracture; (2) brachial and muscular atrophy; (3) childhood onset with slow progression; (4) cardiac conduction disorders; (5) X-linked inheritance. The authors report two cases that have an autosomal dominant inheritance similar to the phenotype of the disease. Example 1: Male, 23 years old. Feeling weak at 3 years of age, the symptoms were slowly progressive increase. To tiptoe while walking, wide base, mild pelvis shaking. Elbow flexor contracture when young, out of 5 years old