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GTR Home > Conditions/Phenotypes > Dentatorubral-pallidoluysian atrophy

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.

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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Practice guidelines

  • EFNS/ENS, 2014
    EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
  • EFNS, 2010
    EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

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