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目的探讨婴儿型脊肌萎缩症(SMA-Ⅰ)的临床及神经电生理特征,为其早期诊断提供依据。方法回顾性分析22例SMA-Ⅰ患儿的临床表现及肌电图检查结果。结果患儿均为1岁内发病,四肢呈对称性迟缓性瘫痪、进行性加重(近端重于远端);肌电图检查示运动神经肌肉复合动作电位(CMAP)波幅降低(以支配近端肌肉者为著),自发电位出现率为86.26%,运动单位电位时限明显延长、波幅明显增高。结论 SMA-Ⅰ典型临床表现为进行性的对称性肌肉萎缩和无力,特异性神经电生理特征为CMAP波幅下降及失神经表现,临床可据此进行早期诊断及治疗。
Objective To investigate the clinical and neuroelectrophysiological characteristics of infantile spinal muscular atrophy (SMA-Ⅰ) and provide the basis for its early diagnosis. Methods Retrospective analysis of 22 cases of SMA-Ⅰ clinical manifestations and electromyography findings. Results The children were all within 1 year of age. Symptomatic limbs were delayed paralysis, progressive worsening (proximal to distal end); EMG examination showed decreased amplitude of motor neuromuscular composite action potential (CMAP) End muscle-oriented), spontaneous potential was 86.26%, exercise unit potential significantly longer time limit, the amplitude was significantly higher. Conclusion The typical clinical manifestations of SMA-Ⅰ are progressive symmetrical muscular atrophy and weakness. The specific electrophysiological characteristics of SMA-Ⅰ are the decrease of amplitude and denervation of CMAP, which can be diagnosed and treated clinically.