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

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