Other Names for this Disease
- Acanthocytosis with neurologic disorder
- Chorea acanthocytosis
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- 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.
- Chorea-acanthocytosis. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=choreaacanthocytosis. Accessed 10/12/2009.
- 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.
- Dobson-Stone C, Rampoldi L, Baeza AV, Walker RH, Danek A, Monaco AP. Choreoacanthocytosis. GeneReviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=chac. Accessed 10/12/2009.