The genetics of primary torsion dystonia

Hum Genet. 1990 Jan;84(2):107-15. doi: 10.1007/BF00208922.


Primary torsion dystonia is an idiopathic movement disorder presumably caused by abnormal function of the basal ganglia. The disorder may be inherited either as an autosomal dominant, autosomal recessive, or X-linked recessive trait. At least six forms of autosomal dominant torsion dystonia can be distinguished clinically. Linkage analysis in one form of autosomal dominant torsion dystonia permits the assignment of a "torsion dystonia locus" to the long arm of chromosome 9.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Dystonia Musculorum Deformans / genetics*
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Pedigree