Université Lyon I, Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie Fonctionnelle et d'Epileptologie, 59 Bd Pinel, 69003 Lyon, France.
Muscle Nerve. 2012 Oct;46(4):604-9. doi: 10.1002/mus.23456.
Distal hereditary motor neuropathy (dHMN) is characterized by isolated distal muscle atrophy without sensory deficit. Nevertheless, clinical sensory loss has been reported despite preserved sensory nerve conduction in a few patients, thus differentiating these cases from the classical type 2 Charcot-Marie-Tooth disease (CMT2).
We report 4 patients who presented with clinical sensory and motor neuropathy and normal peripheral sensory nerve conduction studies and were investigated with complete electrophysiological studies, including somatosensory evoked potentials (SEP).
These patients had a clinical presentation of classical CMT with isolated axonal motor neuropathy suggestive of dHMN. Interestingly, tibial nerve SEPs showed abnormalities suggestive of proximal involvement of dorsal roots that may explain the clinical somatosensory disturbances.
These cases support the concept of spinal CMT that should be recognized as an intermediate form between dHMN and CMT2. SEP recording was helpful in defining a more precise phenotype of spinal CMT.
远端遗传性运动神经病（dHMN）的特征是孤立的远端肌肉萎缩，无感觉缺失。然而，尽管少数患者的感觉神经传导保持正常，但已有临床感觉丧失的报道，因此这些病例与经典型 2 型腓骨肌萎缩症（CMT2）不同。
我们报告了 4 例患者，他们表现出临床感觉和运动神经病，周围感觉神经传导正常，并进行了全面的电生理研究，包括体感诱发电位（SEP）。
这些患者表现为经典的 CMT，伴有孤立的轴索性运动神经病，提示为 dHMN。有趣的是，胫神经 SEP 显示异常，提示背根近端受累，这可能解释了临床感觉障碍。
这些病例支持脊髓 CMT 的概念，应将其视为 dHMN 和 CMT2 之间的中间形式。SEP 记录有助于确定更精确的脊髓 CMT 表型。
