Fujii Shintaro, Eguchi Katsuki, Sato Chika, Saito Yoshihiko, Indrawati Luh Ari, Shirai Shinichi, Nishino Ichizo, Yabe Ichiro
Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University.
Department of Neurology, National Center of Neurology and Psychiatry.
Rinsho Shinkeigaku. 2020 Aug 7;60(8):554-559. doi: 10.5692/clinicalneurol.60.cn-001431. Epub 2020 Jul 7.
A 42-year-old man with a history of two previous coronary embolisms was referred to our hospital. He had been experiencing muscle weakness since he was around 40 years old. He had muscle atrophy of the scapula, upper arm, and lower extremities, and electromyography revealed myogenic changes in the limb muscles. Histopathological analysis of the muscle biopsy specimen revealed a complete deficiency of emerin protein, and genetic examination revealed a mutation in the emerin (EMD) gene, resulting in a diagnosis of Emery-Dreifuss muscular dystrophy (EDMD). EDMD is a muscular disorder with three symptoms: joint contracture at early onset, muscle weakness and atrophy, and cardiac dysfunction. Although this patient showed no obvious joint contracture, the course and clinical symptoms vary among patients. Therefore, in patients in whom clinical diagnosis is difficult, muscle biopsy and genetic testing should be performed for EDMD in order to prevent sudden death due to this disease.
一名有两次冠状动脉栓塞病史的42岁男性被转诊至我院。他从40岁左右开始就一直感到肌肉无力。他的肩胛骨、上臂和下肢出现肌肉萎缩，肌电图显示肢体肌肉有肌源性改变。肌肉活检标本的组织病理学分析显示emerin蛋白完全缺乏，基因检测显示emerin（EMD）基因发生突变，从而诊断为Emery-Dreifuss肌营养不良症（EDMD）。EDMD是一种具有三种症状的肌肉疾病：早发性关节挛缩、肌肉无力和萎缩以及心脏功能障碍。虽然该患者没有明显的关节挛缩，但患者之间的病程和临床症状各不相同。因此，对于临床诊断困难的患者，应进行肌肉活检和EDMD基因检测，以预防因该病导致的猝死。
