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

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1-4
Number of pages4
JournalTremor and Other Hyperkinetic Movements
Volume9
DOIs
StatePublished - 2019
Externally publishedYes

Keywords

  • Childhood onset
  • Lingual dystonia
  • Polyglutamine tract expansion disorder
  • Spinocerebellar ataxia type 3
  • Tongue dystonia

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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