84 – Muscular Dystrophies

摘要: The muscular dystrophies include a large number of hereditary, degenerative diseases skeletal muscle that differ in clinical presentation, mode inheritance, and genetic basis. They share certain pathologic features, including fiber necrosis, acute chronic changes associated with regeneration inflammation, end stage prominent fibrosis replacement by adipose tissue. Major progress is made identifying the basis for most types dystrophy. However, pathogenetic cascades leading to tissues remain be elucidated even common forms dystrophies. One major area research identify commonalities divergences pathogenesis. This chapter summarizes recent developments understanding these mechanisms. It also describes dystrophy, Duchenne's Becker's childhood myotonic dystrophy adulthood, on informative biochemical abnormalities, such as those defects nuclear membrane proteins protein glycosylation. Representative members different groups based presentation may result from unique or mechanisms have been reviewed. Underlying development novel therapeutic techniques need better knowledge basic physiologic cause diseases.