Treatment of generalized dystonia

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

Abstract

Generalized dystonia is a clinical subtype of dystonia characterized by widespread body involvement that includes the trunk and at least two other regions. Generalized dystonia often begins in childhood or adolescence and may be idiopathic or more frequently caused by an array of etiologies, including a growing number of genetic causes. For generalized dystonia that occurs in isolation, there is a limited number of confirmed genes (TOR1A and THAP). On the other hand, there are many genetic causes for combined or complex dystonia, where dystonia occurs along with other neurological or systemic abnormalities. For these dystonias, clinical findings and also imaging, CSF, blood and urine markers can help narrow the differential. Increasingly, however, testing using diagnostic exome sequencing is employed to make a definitive genetic diagnosis. Treatment of generalized dystonia may include therapies specifically targeted to the etiology (e.g., levodopa for genetic defects in dopamine synthesis). But for most patients with generalized dystonia, only symptomatic treatment is available and may include botulinum toxin injections, oral medications, and deep brain stimulation. The latter can provide dramatic benefit, especially for those with TOR1A and idiopathic isolated dystonia.

Original languageEnglish
Title of host publicationCurrent Clinical Neurology
PublisherHumana Press Inc.
Pages225-228
Number of pages4
DOIs
StatePublished - 2019

Publication series

NameCurrent Clinical Neurology
ISSN (Print)1559-0585
ISSN (Electronic)2524-4043

Keywords

  • Botulinum toxin
  • Deep brain stimulation
  • Dopa-responsive dystonia
  • Dystonia
  • Generalized dystonia
  • Genetics of dystonia
  • THAP1
  • TOR1A
  • Trihexyphenidyl
  • Whole exome sequencing

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