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Central core disease
Other Names for this Disease
- CCD
- CCO
- Central core disease of muscle
- Muscle core disease
- Muscular central core disease
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Overview
Central core disease (CCD) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications. Muscle weakness ranges from mild to severe and typically affects muscles in the trunk and upper legs, though muscles in the neck and face can also be affected.[1][2] Muscle weakness in CCD usually does not worsen over time. Skeletal abnormalities may include curving of the spine (scoliosis), dislocation of the hip, or restricted motion in certain joints (contractures). Some individuals with CCD have an increased chance of having a severe reaction to anesthesia, called malignant hyperthermia, which may cause muscle rigidity or break-down (rhabdomyolysis), a high fever, or a rapid heart beat.[1][2] RYR1 is the only gene associated with CCD and clinical testing is available to look for disease-causing alterations in this gene known as mutations.[2]
References
- Central core disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/central-core-disease. Accessed September 6, 2011.
- Malicdan MCV, Nishino I. Central Core Disease. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1391/. Accessed September 6, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Central core disease. Click on the link to go to GHR and review the information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Central core disease. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Central core disease. Click on the link to go to OMIM and review these resources.