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- Title
Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation.
- Authors
Mitchell, Nester; LaTouche, Gaynel A.; Nelson, Beverly; Figueroa, Karla P.; Walker, Ruth H.; Sobering, Andrew K.
- 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.
- Subjects
SPINOCEREBELLAR ataxia; DYSTONIA; TONGUE abnormalities; GAIT disorders in children; DISEASES in girls
- Publication
Tremor & Other Hyperkinetic Movements, 2019, p1
- ISSN
2160-8288
- Publication type
Article
- DOI
10.7916/tohm.v0.704