2019 Articles
Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation
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.
Subjects
Files
-
704-Article Text-16123-1-10-20190913.pdf application/pdf 333 KB Download File
Also Published In
- Title
- Tremor and Other Hyperkinetic Movements
- DOI
- https://doi.org/10.7916/tohm.v0.704
More About This Work
- Academic Units
- Center for Parkinson's Disease and Other Movement Disorders
- Published Here
- December 17, 2019