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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Choreoacanthocytosis


Other Names for this Disease

  • Acanthocytosis with neurologic disorder
  • CHAC
  • Chorea acanthocytosis
  • Chorea-acanthocytosis
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Overview

Choreoacanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Choreoacanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner.[1] There are currently no treatments to prevent or slow the progression of choreoacanthocytosis; treatment is symptomatic and supportive.[2] 
Last updated: 10/12/2009

References

  1. Chorea-acanthocytosis. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=choreaacanthocytosis. Accessed 10/12/2009.
  2. NINDS Neuroacanthocytosis Information Page. National Institute of Neurological Disorders and Stroke (NINDS). March 2009; http://www.ninds.nih.gov/disorders/neuroacanthocytosis/neuroacanthocytosis.htm. Accessed 7/15/2011.
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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.
  • 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 Choreoacanthocytosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Acanthocytosis with neurologic disorder
  • CHAC
  • Chorea acanthocytosis
  • Chorea-acanthocytosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.