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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
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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

The Human Phenotype Ontology provides the following list of signs and symptoms for Dentatorubral-pallidoluysian atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Atrophy of the dentate nucleus 90%
Fetal cystic hygroma 90%
Ataxia 25/25
Dementia 14/25
Seizures 12/25
Nystagmus 9/25
Chorea 7/25
Myoclonus 6/25
Abnormality of pyramidal motor function 5/25
Autosomal dominant inheritance -
Choreoathetosis -
Genetic anticipation -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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.


Other Names for this Disease
  • Ataxia, chorea, seizures, and dementia
  • Dentatorubropallidoluysian atrophy
  • DRPLA
  • Haw River syndrome
  • Myoclonic epilepsy with choreoathetosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.