Central core disease
Other Names for this Disease
- Central core disease of muscle
- Muscle core disease
- Muscular central core disease
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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. 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. 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.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
Last updated: 9/8/2011
- Central core disease. Genetics Home Reference. October, 2007; http://ghr.nlm.nih.gov/condition/central-core-disease. Accessed 9/6/2011.
- Malicdan MCV, Nishino I. Central Core Disease. GeneReviews. May 11, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1391/. Accessed 9/6/2011.
- Genetics Home Reference (GHR) contains information on the P2RY12 gene and its related conditions. This website is maintained by the National Library of Medicine.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- 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.