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FOR EMERGENCIES ONLY

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.

Central Core Disease
Central Core Disease

Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from almost unnoticeable to very severe.

This item filed in the following categories:
  • Molecular Genetics
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scientific understanding of MH and related disorders.