Diagnosis and therapy of congenital myopathies / 中华实用儿科临床杂志

ABSTRACT

Congenital 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.