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

  • Nester Mitchell
  • Gaynel A. LaTouche
  • Beverly Nelson
  • Karla P. Figueroa
  • Ruth H. Walker
  • Andrew K. Sobering

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, tongue dystonia, lingual dystonia, polyglutamine tract expansion disorder

Citation: Mitchell N, LaTouche GA, Nelson B, Figueroa KP, Walker RH, Sobering AK. Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation. Tremor Other Hyperkinet Mov. 2019; 9. doi: 10.7916/tohm.v0.704