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线粒体细胞病(mitochondrial cytopathy,MC)是神经肌肉同时受累并伴线粒体氧化代谢障碍和/或结构异常的一组疾病群,其特点是骨骼肌及受累脏器线粒体异常。临床表现自轻微的肌无力至严重的伴有中枢神经系统受累的多系统功能障碍。多数病例为散发性,但有高比例的母系传递。本组疾病群大致包括Kearns-Sayre综合征(KSS)、Alpers综合征、Leigh脑病、Mnekens病、Canavan病、家族性进行性脑灰质萎缩、Zellweger综合征、MELAS(线粒体脑肌病、乳酸酸中毒、卒中样发作)Fukuhara(伴粗糙红纤维的肌阵挛性癫痫)、Luft病。
Mitochondrial cytopathy (MC) is a group of disorders involving neuromuscular involvement with mitochondrial oxidative dysfunctions and / or structural abnormalities characterized by mitochondrial abnormalities in skeletal muscle and affected organs. Clinical manifestations range from mild myasthenia to severe multiple system dysfunction with central nervous system involvement. Most cases are sporadic but have a high percentage of maternal transmission. This group of disease groups generally include Kearns-Sayre syndrome (KSS), Alpers syndrome, Leigh encephalopathy, Mnekens disease, Canavan disease, familial progressive gray matter atrophy, Zellweger syndrome, MELAS (mitochondrial encephalomyopathy, lactic acidosis , Stroke-like episodes) Fukuhara (myoclonic epilepsy with rough red fibers), Luft’s disease.