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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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Tests & Diagnosis

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How is central core disease diagnosed?

Because the symptoms of central core disease can be quite variable, a physical examination alone is often not enough to establish a diagnosis.  A combination of the following examinations and testings can diagnosis this condition: a physical examination that confirms muscle weakness, a muscle biopsy that reveals a characteristic appearance of the muscle cells, and/or genetic testing that identifies a mutation in the RYR1.[1]
Last updated: 9/8/2011

References
  1. Malicdan MCV, Nishino I. Central Core Disease. GeneReviews. May 11, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1391/. Accessed 9/6/2011.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.
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.