Neuroacanthocytosis
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What is Neuroacanthocytosis?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
What is Neuroacanthocytosis?
Neuroacanthocytosis is a rare movement disorder marked by progressive muscle weakness and atrophy, progressive cognitive loss,
chorea (involuntary twisting movements of the body), and acanthocytosis (spiked red blood cells associated with several inherited
neurological disorders). Other symptoms include facial tics, uncontrolled muscle movement, instability when walking, seizures,
biting of the tongue and lips, and changes in personality, comprehension, and judgment. The disorder is due to degeneration
of the basal ganglia (a part of the brain that helps control movement) and loss of neurons in the brain and spinal cord. Neuroacanthocytosis
has adult and childhood varieties. In adults, onset of classic symptoms is usually begins between ages 20 and 50, while in
children onset is typically seen in adolescence (but may occur earlier). Adult varieties can involve the heart and immune
system. Neuroacanthocytosis is typically an inherited autosomal recessive disorder and is more common in males than in females.
Some types of neuroacanthocytosis have been found to be caused by specific gene defects. Parkinsonism has been associated
with the disorder in some patients.
Is there any treatment?
What is the prognosis?
What research is being done?
Select this link to view a list of studies currently seeking patients.
WE MOVE (Worldwide Education & Awareness for Movement Disorders) 204 West 84th Street New York, NY 10024 wemove@wemove.org http://www.wemove.org Tel: 212-875-8312 Fax: 212-875-8389 |
National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
Office of Rare Diseases National Institutes of Health, DHHS 6100 Executive Blvd., 3B01, MSC 7518 Bethesda, MD 20892-7518 http://rarediseases.info.nih.gov Tel: 301-402-4336 |
National Library of Medicine (NLM) National Institutes of Health, DHHS 8600 Rockville Pike, Bldg. 38, Rm. 2S10 Bethesda, MD 20894 http://www.nlm.nih.gov Tel: 301-496-6308 888-346-3656 |
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Last updated February 14, 2007