What is Central Core Disease (CCD) and how is it related to MH?
Central Core Disease is an inherited disorder with varied manifestations. Some are weak from birth on, others only later in life. The inheritance may be autosomal dominant or recessive, depending on the family. The genetic variation that underlies the disorder is also found on the same gene (RYR-1 gene) that is responsible for MH. It has been known for a long time that patients with this disorder are also at risk for MH and should be treated as MH-susceptible. The signs and symptoms of CCD are variable but mostly are characterized by weakness. A muscle biopsy is needed to confirm the diagnosis. Genetic diagnosis of CCD is developing very rapidly.
