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Genetic and Rare Diseases Information Center (GARD)

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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]
Last updated: 11/24/2008

References

  1. Familial paroxysmal nonkinesigenic dyskinesia. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=familialparoxysmalnonkinesigenicdyskinesia. Accessed 11/24/2008.
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Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
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  • 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.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Choreoathetosis familial paroxysmal
  • DYT8
  • Familial paroxysmal choreoathetosis
  • FPD1
  • Mount-Reback syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.