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Dystonia 8
Other Names for this Disease
- Choreoathetosis familial paroxysmal
- DYT8
- Familial paroxysmal choreoathetosis
- FPD1
- Mount-Reback syndrome
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Overview
Paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes periods of involuntary movement. Common symptoms include 1 to 4 hour long episodes of irregular, jerking or shaking movements, prolonged contraction of muscles, chorea, and/or writhing movements of the limb. The movements may have no known trigger or be brought on by alcohol, caffeine, stress, fatigue, menses, or excitement. The familial form is caused by mutations in the PNKD gene and is inherited in an autosomal dominant pattern.[1]
References
- Familial paroxysmal nonkinesigenic dyskinesia. Genetic Home Reference. http://ghr.nlm.nih.gov/condition=familialparoxysmalnonkinesigenicdyskinesia. Accessed November 24, 2008.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Dystonia 8 have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Dystonia 8. Click on the link to go to GHR and review the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Dystonia 8. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Dystonia 8. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Unterberger I, Trinka E. Review: Diagnosis and Treatment of Paroxysmal Dyskinesias Revisited. Ther Adv Neurol Disorders. 2008;1(2):67-74.