Central Core Disease (CCD)

Central core disease (CCD) or central core myopathy is characterized by decreased muscle tone, skeleton malformations involving the trunk (such as hip dislocation and scoliosis), facial muscle weakness, and developmental delay. This inborn muscle disorder is often validated through biopsy from the muscle. There is a reduced oxidative activity along the muscle fibers’ central cores (the longitudinal axis of the fiber). This was first described in 1956 by Shy and Magee. There is no cure; multidisciplinary support such as physiotherapy, breathing exercises, and corrective surgery are done to help cope with the condition.

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