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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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]
Last updated: 9/8/2011

References

  1. Central core disease. Genetics Home Reference. October, 2007; http://ghr.nlm.nih.gov/condition/central-core-disease. Accessed 9/6/2011.
  2. Malicdan MCV, Nishino I. Central Core Disease. GeneReviews. May 11, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1391/. Accessed 9/6/2011.
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Basic Information

In Depth 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 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.
Other Names for this Disease
  • CCD
  • CCO
  • Central core disease of muscle
  • Muscle core disease
  • Muscular central core disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.