【摘要】 目的　探讨线粒体肌病和线粒体脑肌病的临床特点及预后。方法　对 2 1例线粒体肌病患者的临床、生化、病理及 5年以上的随访资料进行分析、总结。结果　 2 1例患者中 ,有 4例分别在病后 3、4、6、8年死于肺内感染与肺内感染合并多脏器功能损害 ,2例于病后 4 8年死于癫痫持续状态 ,生存最长者已达 12年。 6例线粒体肌病中有 2例分别在病后 5、6年演变为肌阵挛性癫痫合并不整红边纤维 ;3例慢性进行性眼外肌麻痹中有 1例在病后 7年演变为乳酸血症合并卒中样发作。结论　依据临床、生化及病理检查诊断本病并不困难 ,但应注意本病在其发展过程中的演变 ,有必要随访观察更多还原

【Abstract】 Objective To investigate the symptomatic, biochenical, and pathological characteristics of mitochondrial myopathy and mitochondrial encephalomyopathy. Methods Physical examination, electromyography, electroencephalography, cranial CT or MRI, serum enzymological examination, and light microscopy and electron microscopy of muscule biopsy specimens were made among twenty one in patients with the diagnosis of mitochondrial myopathy and mitochondrial encephalopathy. All the patients were followed up for more than 5 years. Results Four patients died of lung infection, epilepticism or multiple organ failure 3, 4, 6, and 8 years after the onset of disease. One patient had already survived for 12 years. Among the 6 patients with the original diagnosis of mitochondrial myopathy, the diagnosis of two was chenged as myoclonus epilepsy with ragged fiber (MERRF) 5 and 6 yearsa after the onset. Among the seven patients whose disease was originally diagnosed as chronic progressive external ophthamoplegia the diagnosis was chenged as mitochondrial encephalomyopathy with lactic acidemia and stroke loike episodes seven years after the onset. Conclusion It is not difficult to diagnose mitochondrial myopathy and mitochondrial encephalomyopathy based on the symptomatical, biochemical, and pathological characteristics. However, the clinical manifestations of these diseases may change during the progress of the disease. Follow up is highly recommended.更多还原