We herein report a case with a novel homozygous variant in the kyphoscoliosis peptidase (KY) gene. A 58-year-old Japanese female was referred to our hospital with a gait disturbance that gradually worsened after the age of 50. She had bilateral equinus foot deformity since early childhood. Neurological examination revealed moderate weakness of the neck, trunk, femoral, and brachial muscles, mild respiratory failure, and areflexia. Whole-exome sequencing revealed a novel homozygous frameshift variant of the KY gene, NM_178554.6:c.824del p.(Glu275Glyfs*53). Our case demonstrated that KY-associated neuromuscular disease can present with extremely slow progressive muscle weakness and respiratory failure over a long natural course.

我们在此报告一例脊柱后侧凸肽酶（KY）基因中存在新的纯合变异的病例。一名58岁的日本女性因50岁以后步态障碍逐渐加重而被转诊至我院。她自幼就有双侧马蹄足畸形。神经系统检查显示颈部、躯干、股骨和肱肌中度无力、轻度呼吸衰竭和反射消失。全外显子组测序揭示了KY基因的一种新型纯合移码变体，NM_178554.6:c.824del p.(Glu275Glyfs*53)。我们的病例表明，KY相关的神经肌肉疾病可以在长期的自然病程中出现极其缓慢的进行性肌肉无力和呼吸衰竭。