【摘要】 目的探讨遗传性运动感觉神经病Ⅰa型的神经电生理、基因与临床特点。方法选择遗传性运动感觉神经病Ⅰa型患者10例,分析其电生理特征,应用肌电图仪检测运动、感觉神经传导速度和肌电图,其中6例进行了基因检测。结果 10例患者感觉神经均未引出反应,4例下肢运动神经未引出反应,6例运动神经传导速度明显减慢;肌电图示轻收缩时运动单位电位时限大致正常。6例基因检测均提示周围神经髓鞘蛋白22基因突变。结论遗传性运动感觉神经病Ⅰa型患者的电生理检测呈神经性损害,运动神经传导速度减慢,基因检测及神经肌电图检查有助于遗传性运动感觉神经病Ⅰa型的诊断。更多还原

【Abstract】 Objective To explore hereditary motor sensory neuropathy disease typeⅠa of neural electrophysiological and gene and clinical features.Methods Ten patients with typeⅠa of hereditary motor sensory neuropathy were selected,and their electrophysiological characteristics were analyzed.Electromyography was used to detect motion,sensory nerve conduction velocity and electromyography,and 6 of them were detected.Results In 10 cases,the sensory nerve did not lead to the reaction,4 cases of lower extremity motor nerve did not lead to reaction,6 cases of motor nerve conduction velocity decreased significantly,and the electromyographic map showed that the motor potential time limit was generally normal when the contraction was light contraction.6 cases of gene detection suggested peripheral myelin protein 22 gene mutation.Conclusion The electrophysiological detection of typeⅠapatients with hereditary motor sensory neuropathy is neurogenic damage,motor nerve conduction velocity is slow,gene detection and nerve electromyography examination are helpful to the diagnosis of type Ⅰa of hereditary sensorineural neuropathy.更多还原