中文摘要：

目的：分析远端型遗传性运动神经病（dHMN）的临床特征。方法：对国内文献报道及本院收治的dHMN患者的临床资料进行回顾性分析。结果：男：女为1.32：1,发病年龄13～60岁,平均（38.2±10.4）岁。下肢起病、上肢起病和四肢同时起病者分别为84.7%、5.6%、9.7%,上肢反射减退、消失,下肢反射减退和消失者分别为30.4%、65.3%,13.0%、87.0%;上肢肌力3～4级、2级、0～1级,下肢肌力3～4级、2级和0～1级者分别为55.4%、37.5%、7.1%,50.0%、37.5%、12.5%。所有患者均无感觉障碍。26例患者行肌电图检查,均提示神经源性损害,运动传导速度和感觉传导速度均正常;8例患者行肌肉活检,均提示神经源性肌萎缩。结论：dHMN多于中年起病,以下肢起病多见,主要表现为四肢末端的肌无力或萎缩,腱反射减退或消失,无感觉障碍,神经电生理及病理检查对dHMN的诊断有重要作用。

英文摘要：

Objective：To evaluate the clinical characteristics of Chinese patients with distal hereditary motor neuropathy（dHMN）.Methods：The clinical data on patients with dHMN collected from literatures published in China and from the patients treated in our hospital were retrospectively analyzed.Results：The male to female ratio of patients was 1.321.The age of onset was from 13 to 60 years old,with a mean of（38.2±10.4）years old.The incidences of onset from the lower limbs,the upper limbs,and the four limbs were 84.7%,5.6%,and 9.7%,respectively.The incidences of decreased tendon reflexes,lost tendon reflexes in the upper limbs,decreased tendon reflexes and lost tendon reflexes in the upper limbs were 30.4%,65.3%,13.0%,and 87.0%,respectively.The incidences of grade 3-4,grade 2,and grade 0-1 muscle strength of the upper limbs,grade 3-4,grade 2,and grade 0-1 muscle strength of the lower limbs were 55.4%,37.5%,7.1%,50.0%,37.5%,and 12.5%,respectively.No sensory disturbance was found in the patients.Electromyography（EMG）of 26 patients showed neurogenic damages,the motor and sensory nerve conduction velocities were all normal.Eight patients showed neurogenic amyotrophy in muscular biopsy.Conclusion：The onset of dHMN is mainly at middle-age and mainly in the lower limbs.The major manifestations include weakness and atrophy of distal limb muscles,decreased or lost tendon reflexes without sensory loss.Electrophysiology and pathology examinations play an important role in the diagnosis of dHMN.