Chinese patients with distal hereditary motor neuropathy: An analysis of clinical characteristics / 第二军医大学学报

ABSTRACT

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.