Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation

Tremor Other Hyperkinet Mov (N Y). 2019 Sep 13:9. doi: 10.7916/tohm.v0.704. eCollection 2019.

Abstract

Background: Dystonia is a relatively common feature of spinocerebellar ataxia 3 (SCA3). Childhood onset of SCA3 is rare and typically associated with either relatively large, or homozygous, CAG repeat expansions.

Case report: We describe a 10-year-old girl with SCA3, who presented with tongue dystonia in addition to limb dystonia and gait ataxia due to a heterozygous expansion of 84 repeats in ATXN3.

Discussion: Diagnosis of the SCAs can be challenging, and even more so in children. Tongue dystonia has not previously been documented in SCA3.

Keywords: Spinocerebellar ataxia type 3; childhood onset; lingual dystonia; polyglutamine tract expansion disorder; tongue dystonia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Ataxin-3 / genetics
  • Child
  • Dystonia / etiology
  • Dystonia / physiopathology*
  • Female
  • Gait Disorders, Neurologic / etiology
  • Gait Disorders, Neurologic / physiopathology*
  • Humans
  • Machado-Joseph Disease / complications
  • Machado-Joseph Disease / genetics
  • Machado-Joseph Disease / physiopathology*
  • Repressor Proteins / genetics
  • Tongue / physiopathology*
  • Trinucleotide Repeat Expansion / genetics

Substances

  • Repressor Proteins
  • ATXN3 protein, human
  • Ataxin-3