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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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What is choreoacanthocytosis?

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

What are the common features of choreoacanthocytosis?

Choreoacanthocytosis affects movement in many parts of the body.[1]
  • Chorea refers to the involuntary jerking movements made by people with this disorder.
  • People with this condition also have abnormal star-shaped red blood cells (acanthocytosis).
  • Another common feature of choreoacanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. These muscle twitches can cause vocal tics (such as grunting), involuntary belching, and limb spasms. Eating can also be impaired as tongue and throat twitches can interfere with chewing and swallowing food.
  • People with choreoacanthocytosis may uncontrollably bite their tongue, lips, and inside of the mouth.
  • Nearly half of all people with choreoacanthocytosis have seizures.
  • Individuals with choreoacanthocytosis may develop difficulty processing, learning, and remembering information (cognitive impairment).
  • They may have reduced sensation and weakness in their arms and legs (peripheral neuropathy) and muscle weakness (myopathy).
  • Impaired muscle and nerve functioning commonly cause speech difficulties in individuals with this condition, and can lead to an inability to speak.
  • Behavioral changes are a common feature of choreoacanthocytosis and may be the first sign of this condition. These behavioral changes may include changes in personality, obsessive-compulsive disorder (OCD), lack of self-restraint, and the inability to take care of oneself.

The signs and symptoms of choreoacanthocytosis usually begin in early to mid-adulthood. The movement problems of this condition worsen with age. Loss of cells (atrophy) in certain brain regions is the major cause of the neurological problems seen in people with choreoacanthocytosis.[1]

Last updated: 10/12/2009

What genes are related to choreoacanthocytosis?

Mutations in the VPS13A gene cause choreoacanthocytosis. The VPS13A gene provides instructions for producing a protein called chorein; the function of this protein in the body is unknown. Some researchers believe that chorein plays a role in the movement of proteins within cells. Most VPS13A gene mutations lead to the production of an abnormally small, nonfunctional version of chorein. The VPS13A gene is active (expressed) throughout the body; it is unclear why mutations in this gene affect only the brain and red blood cells.[1]
Last updated: 10/12/2009

How do people inherit choreoacanthocytosis?

Choreoacanthocytosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[1]
Last updated: 10/12/2009

How is choreoacanthocytosis treated?

There are currently no treatments to prevent or slow the progression of choreoacanthocytosis; treatment is symptomatic and supportive.[2] Management may include: botulinum toxin for decreasing the oro-facio-bucco-lingual dystonia; feeding assistance; speech therapy; mechanical protective devices; splints for foot drop; phenytoin, clobazam, and valproate for seizure management; antidepressant or antipsychotic medications; dopamine antagonists such as atypical neuroleptics or tetrabenazine; and standard treatment for cardiomyopathy. Surveillance includes monitoring of nutritional status and adaptation of diet to assure adequate caloric intake, cardiac evaluations every five years, and EEG every third year.[3]
Last updated: 10/12/2009

References
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.