ADSSL1 myopathy is an inherited myopathy with limb weakness, respiratory muscle paralysis, dysphagia, and myocardial symptoms. We present an autopsy case of a 66-year-old male carrying compound heterozygous variants c.781G>A (p.D261N) and c.919delA (p.I307fs) in ADSSL1. He had not run fast since school with no family history. He showed a gradual progression of limb weakness and developed dyspnoea, dysphagia, and Brugada syndrome at the age of 56. The magnetic resonance imaging (MRI) revealed bright tongue sign. Muscle biopsy showed only chronic myopathic changes. He died of respiratory muscle weakness at the age of 66. Autopsy revealed that there were many fibres with vacuoles and nemaline rods in the biceps brachii, tongue, diaphragm, and iliopsoas. Many lipopigments and nuclear clumps were also detected. The myocardium and central nervous system had only nonspecific age-related changes. This is the first autopsied case to clarify the terminal state of ADSSL1 myopathy.

ADSSL1 肌病是一种遗传性肌病，伴有肢体无力、呼吸肌麻痹、吞咽困难和心肌症状。我们提出了一个 66 岁男性在 ADSSL1 中携带复合杂合变体 c.781G> A (p.D261N) 和 c.919delA (p.I307fs) 的尸检案例. 他从学校开始就没有跑得快，没有家族史。他在 56 岁时表现出肢体无力的逐渐进展，并出现呼吸困难、吞咽困难和 Brugada 综合征。磁共振成像 (MRI) 显示舌亮征。肌肉活检仅显示慢性肌病变化。他死于呼吸肌无力，享年 66 岁。尸检显示，在肱二头肌、舌、横膈膜和髂腰肌中存在许多带有空泡和线虫杆的纤维。还检测到许多脂肪色素和核团块。心肌和中枢神经系统只有非特异性的年龄相关变化。这是第一个阐明 ADSSL1 肌病终末状态的尸检病例。