Clin Neuropathol. 2022 Sep-Oct;41(5):226-232. doi: 10.5414/NP301466.
Distal hereditary motor neuropathy (dHMN), also known as distal spinal muscular atrophy (dSMA), comprises a group of inherited peripheral neuropathies with great clinical and genetic heterogeneity, mainly characterized by progressive atrophy and weakness of distal muscle without clinical or electrophysiological sensory abnormalities. Next-generation sequencing is widely applied as an effective diagnostic technique to discover pathogenic genes in patients with dHMN. To date, at least 23 causal genes have been identified to be associated with dHMN, several of which encode chaperones. Here, we report a dHMN patient due to a homozygous c.184C>T variant in the gene with rare neuropathic and myopathic characteristics on pathological examination. These findings might broaden the mutational spectrum of and expand the tissue involvement of -related presentations.
遗传性远端运动神经病（dHMN），又称远端脊髓性肌萎缩症（dSMA），是一组具有较大临床和遗传异质性的遗传性周围神经病，主要表现为远端肌肉进行性萎缩和无力，无临床或电生理感觉异常。下一代测序作为一种有效的诊断技术，被广泛应用于发现 dHMN 患者的致病基因。迄今为止，至少有 23 个致病基因与 dHMN 相关，其中一些基因编码分子伴侣。本文报道了 1 例 dHMN 患者，其致病原因为基因纯合 c.184C>T 变异，病理检查显示神经和肌病特征罕见。这些发现可能拓宽了基因的突变谱，并扩大了 -相关表现的组织受累范围。
