摘要先天性肌病是一组由基因突变所导致的病程相对静止的肌肉病,临床表现为不同程度的肌无力和肌张力低下,以特异性肌纤维结构异常为病理特征.先天性肌病的诊断主要依据特征性临床表现和病理改变.虽然很多不同病理类型的先天性肌病已经明确了基因诊断,更多新的致病基因仍有待被发现.目前先天性肌病的治疗仍主要是针对肌无力所引起的并发症给予支持和对症治疗.

abstractsCongenital myopathies are a group of genetic muscle disorders with a relatively non-progressive clinical course,characterized by weakness and hypotonia of varying severity,morphologically recognized by specific structural abnormalities within the myofibers.The diagnosis of congenital myopathies mainly based on characterized clinical manifestation and histological features on muscle biopsy.The genetic basis of many different forms of the congenital myopathies has been identified,while there are still more genes to be discovered.Until now,the main management of congenital myopathies was to alleviate complications arising from weakness of various muscle groups.