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

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

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.


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Tremor and Other Hyperkinetic Movements

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Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
December 17, 2019