Emery-Dreifuss Muscular Dystrophy (EDMD)
摘要
Emery-Dreifuss muscular dystrophy (EDMD) is an early-life muscular dystrophy characterized by early contractures, progressive muscular weakness, and cardiac involvement. The transmission is usually X-linked but autosomal forms occur. The condition results from abnormalities of three groups of proteins together referred to as protein envelopathies. Therapy revolves around the management of cardiac issues, maintenance of mobility, and strategies for preventing and helping the contractures.