Central core disease

As a central core myopathy ( central core disease, central core disease, CCD) is a rare muscle disease from the group of congenital myopathies referred to, which was first described in 1956.

Clinic

Clinically be found from birth hypotension muscle ( floppy infant ) and delayed motor development. However, most sufferers develop the ability to walk independently. In the foreground is a weakness of the thigh and hip muscles; often occur also added orthopedic problems such as hip dislocation or scoliosis. Striking is the usually little progressive, static course. Of particular clinical importance is the fact that patients often with central core myopathy have a predisposition to malignant hyperthermia, a condition that can occur as a life-threatening complication of anesthesia in appearance.

Histology and genetics

Muscle biopsy disorders of oxidative intermyofibrillären network with central, bright spots ( cores ) are characteristic, especially in the enzymehistochemical staining for NADH. The disease is inherited in the majority of cases, autosomal dominant with variable penetrance. They are based on predominantly mutations of the gene encoding a ryanodine receptor gene RYR1.