We describe a 48-year-old man, suffering from difficulties in closing his eyes. He subsequently experienced progressive weakness in the facial and bulbar regions and upper limbs. His father and paternal grandmother had limb weakness as initial manifestations and were diagnosed with amyotrophic lateral sclerosis (ALS). In the present case, neuroimaging and laboratory studies were unremarkable, and neurophysiological studies disclosed diffuse denervation. Genetic testing identified a heterozygous c.10A>G, p.K4E (K3E) variant in superoxide dismutase 1 (SOD1) gene, and he was diagnosed with familial ALS. In ALS, facial muscles are rarely involved as an initial symptom. The present patient is a first case of facial onset ALS with K3E variant in SOD1 gene. Two case reports identified facial palsy as an initial manifestation in familial ALS with C6G variant in SOD1 gene. Several ALS patients with variants in SOD1 gene may have facial onset history.

我们描述了一个48岁的男人，他因闭上眼睛有困难。随后，他在面部和延髓区域以及上肢出现渐进性无力。他的父亲和祖母最初以肢体无力为特征，并被诊断出患有肌萎缩性侧索硬化症（ALS）。在目前的情况下，神经影像学和实验室研究并不显着，神经生理学研究显示弥漫性神经支配。基因检测发现超氧化物歧化酶1（SOD1）基因中存在杂合的c.10A> G，p.K4E（K3E）变异，他被诊断患有家族性ALS。在ALS中，面部肌肉很少作为初始症状出现。本患者是SOD1中具有K3E变异的面部发病ALS的第一例基因。有两个病例报告确认面部麻痹是家族性ALS中SOD1基因C6G变异的最初表现。几名SOD1基因变异的ALS患者可能有面部发病史。