The following information may help to address your question:
What is chorea-acanthocytosis?
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.
[1] There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive.
[2]
Last updated: 8/21/2015
What are the signs and symptoms of chorea-acanthocytosis?
Chorea-acanthocytosis 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 chorea-acanthocytosis 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 chorea-acanthocytosis may uncontrollably bite their tongue, lips, and inside of the mouth.
- Nearly half of all people with chorea-acanthocytosis have seizures.
- Individuals with chorea-acanthocytosis may develop difficulty processing, learning, and remembering information (cognitive impairment).
- They may also 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, and can lead to an inability to speak.
- Behavioral changes are also a common feature of chorea-acanthocytosis 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 chorea-acanthocytosis 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 chorea-acanthocytosis.[1]
Last updated: 8/21/2015
What genes are related to chorea-acanthocytosis?
Mutations in the
VPS13A gene cause chorea-acanthocytosis. 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: 8/21/2015
How do people inherit chorea-acanthocytosis?
Chorea-acanthocytosis 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: 8/21/2015
How is chorea-acanthocytosis treated?
There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive.
[2] Management may include:
botulinum toxin for decreasing the oro-facio-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: 8/21/2015
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GARD Information Specialist
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