Central core disease


Central core disease (CCD) is an autosomal dominant congenital myopathy (inborn muscle disorder)


The symptoms of central core disease are variable, but usually involve hypotonia (decreased muscle tone) at birth, mild delay in child development (highly variable between cases), weakness of the facial muscles, and skeletal malformations such as scoliosis and hip dislocation.


multiple origins; commonly caused by defects in a gene that carries instructions for a molecular "gate" that releases calcium from inside muscle cells


The diagnosis is made on the combination of typical symptoms and the appearance on biopsy (tissue sample) from muscle. The name derives from the typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Respiratory insufficiency develops in a small proportion of cases. Creatine kinase and electromyography (EMG) tend to be normal.


The typical form of dominantly inherited CCD is usually associated with a mild to moderate degree of disability and carries an overall favourable prognosis, although the degree of severity may be variable, occasionally within the same family. Apart from the most severe cases and some of those with congenital orthopaedic complications almost all patients achieve the ability to walk independently. The course of CCD is static or only slowly progressive, even over prolonged periods of follow-up . In the most severely affected, often recessive CCD cases with antenatal onset, respiratory impairment may be life-limiting despite active management, although others appear to stabilise or even improve after a period of ventilation


There is no specific treatment but triggering anesthetics are avoided and relatives are screened for RYR1 mutations as these may make them susceptible to MH