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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
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.
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:
Liana Veneziano
Marina Frontali
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Available tests

46 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (46 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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