Chorea-acanthocytosis

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Disease Overview

Chorea-acanthocytosis 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. Chorea-acanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner.[1696] There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive.[1697] 


Synonyms

  • Acanthocytosis with neurologic disorder
  • ChAc
  • Choreoacanthocytosis
  • Chorea acanthocytosis

For more information, visit GARD.

National Organization for Rare Disorders