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目的 报道一个进展缓慢的显性遗传性肩肱型脊髓性肌萎缩家系 ,探讨其临床特点和诊断规律。方法 对一个家系三代进行调查 ,对 1例先证者进行详细的临床和肌电图检查 ,及右肱二头肌活检标本进行组织学、组织化学和超微结构检查。结果 本家系三代人每代均有发病者 ,共有 4人发病 ,发病年龄在 10～ 3 0岁左右 ,以缓慢进行性的颈肩带及双上肢肌肉萎缩和无力为特点 ,仅 1例出现舌肌束颤 ,均伴有眼外肌麻痹、抬头困难和神经性耳聋 ,1例伴有双眼白内障。对其中 1例病人行肌电图和肌肉活检结果显示为神经原性损害。结论 此例的临床、电生理和肌肉病理检查符合显性遗传性肩肱型脊髓性肌萎缩的诊断 ,合并出现眼外肌麻痹和听神经损害是此家族的临床特点。
Objective To report a slow-moving dominant hereditary shoulder-humerus spinal muscular atrophy family, to explore its clinical features and diagnostic rules. Methods Three generations of a pedigree were surveyed. One case of probands was examined by detailed clinical and EMG examination, and the right biceps biopsy specimens were histologically, histochemically and ultrastructurally examined. Results The three generations of this family have the incidence of each generation, a total of 4 onset, the onset of age in the 10 ~ 30 years old, slowly progressive neck and shoulder muscles and both upper extremity muscle atrophy and weakness, only one case of tongue Muscle bundle fibrillation, are associated with extraocular muscle paralysis, head difficulties and neurological deafness, 1 case with binocular cataracts. Electromyography and muscle biopsy results of one of the patients showed neurogenic damage. Conclusion The clinical, electrophysiological and muscle pathological findings of this case are in line with the diagnosis of dominantly inherited humeral muscular atrophy of the shoulder, which is a clinical feature of this family with combined extraocular muscle paralysis and auditory nerve damage.