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GTR Home > Conditions/Phenotypes > Dentatorubral-pallidoluysian atrophy

Dentatorubral-pallidoluysian atrophy

Synonyms
Ataxia, chorea, seizures, and dementia; Haw River syndrome; Myoclonic epilepsy with choreoathetosis; Naito Oyanagi disease
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: DRPLA
DRPLA (dentatorubral-pallidoluysian atrophy) is a progressive neurologic disorder characterized by five cardinal features (irrespective of the age of onset): ataxia, cognitive decline, myoclonus, chorea, epilepsy, and psychiatric manifestations. Onset ranges from infancy to late adulthood (range: age 0-72 years; mean: age 31.5 years). The clinical presentation varies by age of onset: individuals with juvenile onset (before age 20 years) have myoclonus, epilepsy, and progressive intellectual deterioration, whereas individuals with adult onset (after age 20 years) have ataxia, choreoathetosis, and dementia or neuropsychiatric changes. Disease duration is on average eight years (range: 0-35 years) and age at death is on average 49 years (range: age 18-80 years).
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Silvia Prades
Claudio Melo de Gusmao
Silvia Grimaldi
view full author information

Available tests

39 tests are in the database for this condition.

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Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: B37, CHEDDA, D12S755E, DRPLA, HRS, NOD, ATN1
    Summary: atrophin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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