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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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Symptoms


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What are the signs and symptoms of dentatorubral-pallidoluysian atrophy (DRPLA)?

The signs and symptoms of DRPLA differ somewhat between affected children and adults.

When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus); seizures; behavioral changes; intellectual disability; and problems with balance and coordination (ataxia).[1] Epileptic seizures occur in all individuals with onset before 20 years of age.[2]

When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia; uncontrollable movements of the limbs (choreoathetosis); psychiatric symptoms such as delusions; and deterioration of intellectual function (dementia).[1] Seizures are less frequent in individuals with onset between the ages of 20 and 40. Seizures are rare in individuals with onset after age 40.[2]

Individuals who have inherited the condition from an affected parent typically have symptoms 26 to 29 years earlier than affected fathers, and 14 to 15 years earlier than affected mothers.[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. Shoji Tsuji. DRPLA. GeneReviews. June 1, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1491/. Accessed 9/5/2012.