Miyaue Noriyuki, Yamanishi Yuki, Tada Satoshi, Ando Rina, Nagai Masahiro, Nomoto Masahiro
Department of Neurology and Clinical Pharmacology, Ehime University Graduate School of Medicine, Japan.
Intern Med. 2018 Dec 1;57(23):3439-3443. doi: 10.2169/internalmedicine.1210-18. Epub 2018 Jul 6.
Myoclonus epilepsy associated with ragged-red fibers (MERRF) is traditionally characterized by myoclonus, generalized epilepsy and ragged-red fibers. We herein report a 42-year-old man who complained of falling after starting running, symptoms resembling those of paroxysmal kinesigenic dyskinesia. He showed only slight muscle weakness of the right quadriceps femoris. Muscle pathology and a genetic analysis identified him as having MERRF with a 8344A>G mtDNA mutation. We diagnosed his symptoms as having been caused by slight quadriceps femoris muscle weakness and exercise intolerance. This case suggests that mitochondrial myopathy should be considered in cases with strong muscle symptoms for muscle weakness.
肌阵挛性癫痫伴破碎红纤维病（MERRF）传统上的特征为肌阵挛、全身性癫痫和破碎红纤维。我们在此报告一名42岁男性，他主诉开始跑步后跌倒，症状类似于阵发性运动诱发性运动障碍。他仅表现出右股四头肌轻度肌无力。肌肉病理学检查和基因分析确定他患有MERRF，存在8344A>G线粒体DNA突变。我们诊断他的症状是由股四头肌轻度肌无力和运动不耐受引起的。该病例表明，对于有明显肌肉症状提示肌无力的患者，应考虑线粒体肌病。
