Clinical Neurogenetics: Dystonia From Phenotype to Genotype

Jeffrey L. Waugh, Nutan Sharma

Research output: Contribution to journalReview articlepeer-review

4 Scopus citations


Dystonia can arise from genetic syndromes or can be secondary to nongenetic injuries; both causes can produce pure dystonia, dystonia plus other movement disorders, or paroxysmal mixed movement disorders. Genetic causes of dystonia are inherited through dominant, recessive, X-linked, and mitochondrial mechanisms, may show anticipation, are variably penetrant, and may be limited to small ethnic populations or single families. In this article, the genetic causes of dystonia, an algorithm for their diagnosis and management, information on common medications and surgical treatments, and resources for affected families and those interested in advancing research are presented.

Original languageEnglish (US)
Pages (from-to)969-986
Number of pages18
JournalNeurologic Clinics
Issue number4
StatePublished - Nov 2013


  • Dystonia
  • Myoclonus
  • Parkinsonism
  • Paroxysmal dyskinesia

ASJC Scopus subject areas

  • Clinical Neurology


Dive into the research topics of 'Clinical Neurogenetics: Dystonia From Phenotype to Genotype'. Together they form a unique fingerprint.

Cite this