The clinical analysis of mitochondrial myopathy and mitochondrial encephalomyopathy

Objective To investigate the pathogenesis,diagnosis,clinical and pathological features of the mitochondrial disease of neuromuscular system.Method Seven patients were retrospectively studied in term of the clinical manifestations,pathological examination,laboratory and imaging data.Results Three of the seven patients were diagnosed as mitochondrial myopathy,and four cases mitochondrial encephalomyopathy.The blood lactate level elevated in two cases.EMG abnormalities and characteristic change of the muscle biopsy were found in all the seven cases.The abnormal changes of the head imaging were found in the four cases of patients with mitochondrial encephalomyopathy.Conclusion Mitochondrial disease mainly involves the muscles and central nervous system.Its diagnosis mainly depends on clinical and pathological performance.Recently the genetic study and diagnostic imaging are developing rapidly.Symptomatic treatment is the main treatment.