Movement disorders in Friedreich's ataxia

J Neurol Sci. 2003 Jan 15;206(1):59-64. doi: 10.1016/s0022-510x(02)00321-0.

Abstract

Since the discovery of the gene mutation causing Friedreich's ataxia (FA), the rich spectrum of clinical manifestations of this autosomal recessive disorder is being increasingly recognized. Movement disorders besides ataxia, however, have not been fully characterized in patients with FA. We describe here two young male patients who, in addition to progressive ataxia, kinetic tremor and other typical features of FA, also manifest axial and limb dystonia. The primary purpose of this report is to draw attention to the broad spectrum of hyperkinetic movement disorders that can present as or be associated with FA.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Friedreich Ataxia / genetics
  • Friedreich Ataxia / physiopathology*
  • Humans
  • Male
  • Movement Disorders / classification
  • Movement Disorders / etiology*
  • Movement Disorders / physiopathology*
  • Pedigree