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目的探讨儿童脊髓性肌萎缩症(SMA)的临床及电生理特点。方法收集32例SMA患儿的临床资料,其中28例患儿行肌电图、运动神经传导速度及感觉神经传导速度等神经电生理检查,24例患儿行腓肠肌活检。结果32例SMA中,SMAⅠ型15例,SMAⅡ型12例,SMAⅢ型5例,均表现为进行性肌无力、肌萎缩,肌张力低下。各型SMA患儿起病年龄及病情轻重有其相应的特点。SMAⅠ型患儿不能竖头,均有呼吸肌受累表现,其中10例有颅神经受累症状。SMAⅡ型患儿能独坐,仅1例出现矛盾呼吸及吞咽困难。SMAⅢ型患儿能独站,其中3例可行走,均无呼吸肌受累表现。肌电图呈神经源性损害,主要表现为自发电位,其出现率为87%,运动单位时限延长(幅度30%～150%)、波幅增高(幅度90%～450%),28%运动神经传导速度轻度减慢(降幅24%～40%),93%肌肉复合动作电位波幅降低(降幅56%～99%),远端潜伏期均正常。感觉神经传导速度及诱发波幅均在正常范围。肌肉活检为典型的神经源性肌萎缩。结论根据临床特点、肌电图及肌活检结果可确诊SMA,重视SMA患儿的呼吸管理,可延长患儿生存时间,提高生活质量。
Objective To investigate the clinical and electrophysiological characteristics of children with spinal muscular atrophy (SMA). Methods The clinical data of 32 cases of SMA children were collected. Electromyography, motor nerve conduction velocity and sensory nerve conduction velocity were performed in 28 children. Twenty-four children underwent gastrocnemius muscle biopsy. Results Among the 32 cases of SMA, 15 cases were SMA Ⅰ, 12 cases SMA Ⅱ and 5 cases SMA Ⅲ. All of them showed progressive myasthenia, muscular atrophy and hypotonia. The onset of various types of SMA children with mild illness and severity of its corresponding characteristics. SMA Ⅰ-type children can not be vertical, have respiratory muscle involvement performance, of which 10 cases of cranial nerve involvement symptoms. SMA Ⅱ type children can sit alone, only 1 case of contradictory respiratory and dysphagia. SMA Ⅲ type children can stand alone, of which 3 cases were walking, no respiratory muscle involvement performance. EMG showed neurogenic damage, mainly for the spontaneous potential, the occurrence rate of 87%, prolonged exercise unit time (amplitude 30% to 150%), increased amplitude (amplitude 90% to 450%), 28% of motor nerves The conduction velocity slowed down slightly (by 24% -40%), the amplitude of 93% muscle composite action potential decreased (by 56% -99%), and the distal latency was normal. Sensory nerve conduction velocity and induced amplitude were in the normal range. Muscle biopsy is a typical neurogenic muscle atrophy. Conclusion According to clinical features, electromyography and muscle biopsy results can be confirmed SMA, attention to the respiratory management of children with SMA, can extend the survival of children and improve quality of life.