腓骨肌萎缩症1型临床与电生理分析

目的：分析腓骨肌萎缩症1型(charcot-marie-tooth disease，CMT1)患者的临床与电生理特点。方法：对1家系24人(已故2例)中7例(已故1例)CMT1患者临床特点进行总结，分析其中6例的电生理特征．包括肌电图(EMG)、运动神经传导速度(MCV)和感觉神经传导速度(SCV)。结果：4例于青少年期发病，有肢体远端肌无力和萎缩、腱反射减弱或消失、足畸形等典型的临床症状；3例EMG出现纤颤、正相电位，6例有运动电位时限延长；3例下肢SCV引不出，1例MCV引不出。结论：同一家系的CMT1型患者，临床表现亦差异较大；电生理特点为下肢神经病变重于上肢，感觉神经病变重于运动神经，且受累的严重程度不一致。

Clinical and Electrophysiological Analysis of Charcot-Marie-Tooth Disease Type 1

Objective: To analyze the clinical and electrophysiological features of Charcot-Marie-Tooth disease type 1. Methods: Clinical symptoms and signs were summarized in 7 patients from one family of 24 persons. Electromyography (EMG) as well as motor conduction velocities (MCV) and sensory conduction velocities (SCV) examinations were performed on 6 patients. Results: Most patients suffered CMT1 in their youth. The typical clinical manifestations of CMT1 included weakness and atrophy in the distal limbs, weakness or absence of the tendon reflexes and talipes equinovarus. EMG revealed that 3 cases had fibrillation and positive sharp potentials. All of them had prolonged motor unit potential limit. Values of SCV and MCV for the lower limbs were not obtained in 3 patients and 1 patient respectively. Conclusion: The clinical features of CMT1 showed various manifestations from the same family. The electrophysiological features were that the damages of nerves for the lower limbs were more severer than those in the upper limbs and the damages of the sensory nerves were more severer than those of the motor nerves. The severity of sensory nerves and motor nerves were different in different patients.