远端遗传性运动神经病的临床与神经电生理特点分析

Clinical and neuroelectrophysiological characteristics of distal hereditary motor neuropathy

目的 总结分析5例遗传性远端运动神经病患者的临床与神经电生理特点。方法 对2018年5月至2020年1月于河南省人民医院就诊的5例dHMN(distal hereditary motor neuropathies, dHMN)患者的临床表现与神经电生理特点进行总结与分析。结果 5例患者来自3个家系,男性2例,女性3例,发病年龄介于15~50岁,均以下肢远端无力起病,病程介于2~25年。其中3例仅表现为双下肢无力,另外2例在发病20年和23年后出现双上肢无力。3例神经电生理表现为四肢运动轴索性神经病,2例为下肢运动轴索性神经病。基因检查发现1例携带VRK1基因p.W375X突变,2例携带SLC5A7基因p.Y500C突变,另两例未发现致病基因。结论 5例患者临床与神经电生理表现符合长度依赖性运动轴索性神经病特点,即下肢远端神经先于下肢近端及上肢神经受累,且受累程度更重。神经电生理检查对dHMN的诊断与鉴别诊断具有重要价值。

Objective To summarize and analyze the clinical and neuroelectrophysiological characteristics of 5 patients with hereditary distal motor neuropathy(dHMN). Methods The clinical manifestations and neuroelectrophysiological characteristics of 5 patients with dHMN who were referred to Henan Provincial People’s Hospital from May 2018 to January 2020 were summarized and analyzed. Results Five patients came from 3 families, 2 males and 3 females. The age of onset ranged from 15-50 years. All patients presented with weakness of distal lower extremities. The disease duration ranged from 2-25 years. Three of them only showed weakness of lower extremities, and the other 2 cases also showed weakness in upper extremities at 20 and 23 years after the onset, respectively. The neuroelectrophysiological manifestations of 3 cases were motor axonal neuropathy of four extremities, and 2 cases were motor axonal neuropathy of the lower extremities. Genetic testing revealed one case carrying the VRK1 gene p.W375 X mutation, two cases carrying the SLC5 A7 gene p.Y500 C mutation, and no definite disease-causing mutations was found in the other two cases. Conclusion The clinical and neuroelectrophysiological characteristics of 5 patients were consistent with the features of length-dependent motor axonal neuropathy, that is, the distal nerves of the lower extremities were involved before the proximal nerves of lower extremities and upper limbs, and the degree of involvement was more severe in the distal nerves of the lower extremities. Neuroelectrophysiological examination is of great value in the diagnosis and differential diagnosis of dHMN.