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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Dentatorubral-pallidoluysian atrophy


Other Names for this Disease
  • Ataxia, chorea, seizures, and dementia
  • Dentatorubropallidoluysian atrophy
  • DRPLA
  • Haw River syndrome
  • Myoclonic epilepsy with choreoathetosis
More Names
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Overview


Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive brain disorder that causes involuntary movements; mental and emotional problems; and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but the condition can appear anytime from infancy to mid-adulthood. Specific signs and symptoms may differ among affected individuals and sometimes affects children and adults differently. DRPLA is caused by a mutation in the ATN1 gene and is inherited in an autosomal dominant manner.[1] Treatment is symptomatic and supportive.[2]
Last updated: 9/5/2012

References

  1. Dentatorubral-pallidoluysian atrophy. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=dentatorubralpallidoluysianatrophy. Accessed 5/10/2010.
  2. Brice A. Dentatorubral pallidoluysian atrophy. Orphanet. 2004; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101. Accessed 5/10/2010.
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Basic Information

  • Stanford University's HOPES Web site offers a detailed description of DRPLA with illustrations. Click on HOPES to view the information page.
  • Genetics Home Reference (GHR) contains information on Dentatorubral-pallidoluysian atrophy. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dentatorubral-pallidoluysian atrophy. Click on the link to view a sample search on this topic.