Home > Encyclopedia of Neurological Disorders > Congenital Myopathies

Definition

Myopathies are diseases that cause weakness and hypotonia (poor tone) in the muscles that control voluntary movements. Congenital myopathies are a group of myopathies, usually present from birth, that display structural changes in the skeletal muscles. The list of diseases defined as congenital myopathies varies. Three inherited conditions in particular are definitively known as congenital myopathies: central core disease, nemaline myopathy, and centronuclear (myotubular) myopathy. These myopathies lead to generalized muscle weakness, decreased muscle tone, weak muscle reflexes, poor muscle bulk, and often a characteristic facial and bodily appearance.

Description

Central core disease

First described in 1956, central core disease...