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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.

SUBMITTER: Mitchell N

PROVIDER: S-EPMC6744815 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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

Mitchell Nester N LaTouche Gaynel A GA Nelson Beverly B Figueroa Karla P KP Walker Ruth H RH Sobering Andrew K AK

Tremor and other hyperkinetic movements (New York, N.Y.) 20190913

<h4>Background</h4>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.<h4>Case report</h4>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.<h4>Discussion</h4>Diagnosis of the SCAs can be challenging, and even more so in chi ...[more]

PMID: 31565539

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