Encyclopedia of Genetic Disorders | Central core disease

Definition

Central core disease (CCD) is an inherited muscle disorder that affects many of the voluntary muscles necessary for movement. The hips and legs are particularly affected. Although central core disease is disabling, it is not fatal.

Description

First described in 1956, central core disease is one of a group of muscle disorders, or myopathies, named for certain abnormalities found in the muscle biopsies of people with the syndrome. CCD occurs when the central parts, or cores, of certain muscle cells are metabolically inactive, meaning they do not produce energy correctly. This happens because the cores lack a substance called mitochondria, the energy-producing parts of the muscle cells.

According to the Muscular Dystrophy Association, a muscle cell produces thousands of...