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GTR Home > Tests > Dentatorubro-pallidoluysian atrophy

Indication

This is a clinical test intended for Help: Diagnosis, Pre-symptomatic

Clinical summary

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Imported from GeneReviews

Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive disorder of ataxia, myoclonus, epilepsy, and progressive intellectual deterioration in children and ataxia, choreoathetosis, and dementia or character changes in adults. Onset ranges from before age one year to age 72 years; mean age of onset is 31.5 years. The clinical presentation varies depending on the age of onset. The cardinal features in adults are ataxia, choreoathetosis, and dementia. Cardinal features in children are progressive intellectual deterioration, behavioral changes, myoclonus, and epilepsy.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Cerebellar ataxia
  • Chorea
  • Dystonic disorder
  • Myoclonus
  • Seizure
  • Choreoathetosis
  • Parkinsonism
  • Dementia
  • Postural instability
  • Atrophy of the dentate nucleus
  • Intellectual disability
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Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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