婴儿型脊肌萎缩症的临床及电生理分析

Clinical and Eletrophysiology Analysis of Infantile Spinal Muscular Atrophy

目的分析婴儿型脊肌萎缩症患儿的临床及电生理表现,探讨本病的电生理特点及早期诊断要点。方法回顾性分析25例婴儿型脊肌萎缩症临床资料,肌电电生理按常规方法进行,针极肌电图按汤氏正常计算,神经传导速度按本室正常计算。结果患儿大多在1岁内起病,四肢呈对称性、迟缓性瘫痪,下肢重于上肢,近端重于远端;血清CK、LDH正常。肌电图表现为3个肢体在肌肉安静时出现广泛的失神经电位,轻用力时出现长时限、高波幅的运动单位电位,大力募集时电位数减少;神经传导速度正常,肌肉复合动作电位降低;肌肉活检为典型的神经源性肌萎缩。结论本病确诊应依据临床特点、肌电电生理、肌肉活检的改变。

Objective To explore the feature of electrical physiology and the key aspect of diagnosis in early stage of spinal muscular atrophy in infants. Method The hack clinical data of the tousle change of electrical physiology within 25 cases were analyzed, Resuits The children were ill in 1 year old,with the symptom that four limbs present symmetry and paralysing slowly, low limbs being more serious than upper limbs, the close and the distant of the four limbs. The levels of creatine kinase（CK） and lactate dehydrogenase （LDH） in serum were normal and the case unconcentrated was not seen rarely. The show of electromyogram（EMG） was that three limbs presenting wide-range losing nerve electric potential in peace state, when straingently the deadline was long and the motor unit potential（MUP） was high,when strain highly the eletric potential was decreased; the speed of nerve conduction was common. Muscle inspection was typical nervine myatrophy. Conclusion The clinical feature, the changes of muscle electrical physiology and the muscle inspection are valuable for diagnosis ,so as to afford reliable evidence for further gene diagnosis.