Central core disease
Other Names for this Disease
- Central core disease of muscle
- Muscle core disease
- Muscular central core disease
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. 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. 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 Central core disease. This website is maintained by the National Library of Medicine.
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- The Online Mendelian Inheritance in Man (OMIM) is an 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.
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