Other Names for this Disease
- Acanthocytosis with neurologic disorder
- Chorea acanthocytosis
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There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive. 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.
Last updated: 8/21/2015
- NINDS Neuroacanthocytosis Information Page. National Institute of Neurological Disorders and Stroke (NINDS). March 16, 2009; http://www.ninds.nih.gov/disorders/neuroacanthocytosis/neuroacanthocytosis.htm. Accessed 8/21/2015.
- Baeza AV, Dobson-Stone C, Rampoldi L, Bader B, Walker RH, Danek A, Monaco AP. Chorea-acanthocytosis. GeneReviews. January 30, 2014.; http://www.ncbi.nlm.nih.gov/books/NBK1387/. Accessed 8/21/2015.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- ClinicalTrials.gov lists trials that are studying or have studied Chorea-acanthocytosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.