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目的 研究 17p11.2 12基因重复的进行性腓骨肌萎缩 (CMT1A )症 1A型患者电生理特点。方法 应用肌电图仪检测和分析来自 2 1个家系的 2 2例CMT1A患者的电生理特征 ,包括肌电图及运动、感觉神经传导速度。结果 77.3 % ( 17/2 2 )的患者肌电图上出现纤颤、正相电位 ,81.8% ( 18/2 2 )的患者运动单位电位时限延长。CMT1A患者正中运动神经传导速度 (MCV)与无重复的CMT1患者相比差异无显著性意义 (t =1.6 3 ,P >0 .0 5 )。 90 .9% ( 2 0 /2 2 )的患者下肢感觉神经传导速度 (SCV)引不出 ,分别有 13例和 12例患者正中神经和尺神经的SCV引不出。 1例患者所检神经的SCV均在正常范围 ,而他的MCV都明显低于正常 ;1例患者尺神经SCV正常 ,而其MCV <2 0m /s ;还有 1例患者正中神经SCV正常 ,而其MCV只有 38m /s。但 13例正中SCV未引出的患者中 ,对应的MCV仅 1例未测出 ,最快的传导速度高达41.6m/s ;12例尺神经SCV未引出者 ,对应的MCV仅 3例未测出 ,最快的传导速度为 32m /s。结论 该组CMT1A患者电生理特点为大多数患者肌电图呈神经源性损害 ;下肢感觉神经病变重于上肢 ;感觉神经与运动神经不一定同时受累 ,受累的严重程度亦可能不一致 ,存在个体差异。
Objective To investigate the electrophysiological characteristics of type 1A patients with progressive Charcot-Marie-Tooth Sympathetic (CMT1A) disease of 17p11.2 12 gene duplication. Methods The electrophysiological characteristics of 22 patients with CMT1A from 21 pedigrees were examined and analyzed by electromyography, including EMG and motor and sensory nerve conduction velocity. Results In 77.3% (17/2) of the patients, fibrillation and normal phase potentials were found on the EMG, and the duration of exercise unit potentials was prolonged in 81.8% (18/2 2) of the patients. The median motor nerve conduction velocity (MCV) in patients with CMT1A was not significantly different from those without CMT1 (t = 1.6 3, P> 0.05). In 90.9% (20/2) of the patients, the sensory nerve conduction velocity (SCV) of lower extremity was not shown. There were 13 cases of SCV and 12 cases of SCN. The SCV of the nerve examined in 1 patient was in the normal range, and his MCV was significantly lower than normal. One patient had normal SCV of ulnar nerve and MCV <20 m / s. In another patient, median SCV was normal, The MCV only 38m / s. However, among the 13 patients without SCV, only 1 of the corresponding MCV was not detected and the fastest conduction velocity was 41.6 m / s. Only 12 patients with ulnar nerve SCV did not appear and only 3 corresponding MCV were not detected , The fastest conduction speed of 32m / s. Conclusion The electrophysiological characteristics of CMT1A patients in this group are neurogenic lesions in most of the patients with EMG; lower limb sensory neuropathy is more severe than upper limbs; the sensory nerve and motor nerve may not be involved at the same time, and the severity of the involvement may be inconsistent with individual differences .