成人型脊髓性肌萎缩症46例临床分析

目的 总结成人型脊髓性肌萎缩症(SMA_4)的临床、肌电图和病理特征。方法 收集48例经肌肉活检确诊的SMA_4病人的临床、肌电图和病理资料,对其进行回顾性分析和研究。结果 SMA_4病人平均发病年龄38.23岁,起病隐袭,肌无力和肌萎缩以四肢近端为主,进展缓慢,预后相对较好。肌电图主要表现为插入电位异常,常见纤颤波和束颤波,部分可见正相尖波,平均波幅和平均时限均显著增加,大都有多相电位增多,大力收缩都不能达到干扰相。肌活检主要表现为小群性肌萎缩,并可见同型肌君化及肌纤维代偿性肥大。结论 根据临床特征,结合肌电图和肌活检结果,可以确诊成人型脊髓性肌萎缩症。

Clinical and electromyography analysis of 46 cases of adult spinal muscular atrophy

Objective To summarize the clinical, electromyography and muscular pathological feature in adult spinalmuscular atrophy (SMA_4). Methods The clinical and electromyography and pathological materials from 48 patients withSMA_4. were studied in retrospect tively. Results SMA_4 onset was averaged 38.23 years old,The disease showed proximalweakness and atrophy. The electromyoguphy in the patients with SMA_4. presented as abnormal insertion potential,fibrilla-tion potential and fascicular potential, positive spike in some patients, remarkable increase of mean amplitude, mean timelimit and polyphasic action potential,and so on. Muscle biopsy showed: 1. small groups atrophy mainly;2. extensive fibertype grouping and more hypertrophic fiber. Conclusions SMA_4 could be diagnosed by the clinical manifestations andelectromyography and muscle biopsy.