DYT5

G. Bernard, S. Chouinard, R. Saunders-Pullman

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

Dopa-responsive-dystonia (autosomal dominant (AD) DYT5, also known as Segawa’s disease) is characterized by an early onset (1-12years) limb dystonia, typically involving the legs and affecting walking. The hallmarks of this disease include diurnal fluctuation and marked and prolonged response to low doses of levodopa.

Original languageEnglish
Title of host publicationEncyclopedia of Movement Disorders, Three-Volume Set
PublisherElsevier
PagesV1-414-V1-419
ISBN (Electronic)9780123741059
DOIs
StatePublished - 1 Jan 2010
Externally publishedYes

Keywords

  • DYT5
  • Dopa-responsive dystonia
  • Dystonia
  • GCH1
  • Levodopa
  • Reduced penetrance
  • Segawa’s disease

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