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Choreoacanthocytosis

Other Names for this Disease
  • Acanthocytosis with neurologic disorder
  • CHAC
  • Chorea acanthocytosis
  • Chorea-acanthocytosis
More Names
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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] 

References

  1. Chorea-acanthocytosis. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=choreaacanthocytosis. Accessed October 12, 2009.
  2. NINDS Neuroacanthocytosis Information Page. National Institute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/disorders/neuroacanthocytosis/neuroacanthocytosis.htm. Accessed July 15, 2011.
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General Information

  • Genetics Home Reference (GHR) contains information on Choreoacanthocytosis. Click on the link to go to GHR and review the 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 National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Choreoacanthocytosis. Click on the link to go to OMIM and review these resources.