Childhood-onset spinocerebellar ataxia 3: Tongue dystonia as an early manifestation

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

doi:10.7916/tohm.v0.704

Childhood-onset spinocerebellar ataxia 3: Tongue dystonia as an early manifestation

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

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1-4
Number of pages	4
Journal	Tremor and Other Hyperkinetic Movements
Volume	9
DOIs	https://doi.org/10.7916/tohm.v0.704
State	Published - 2019
Externally published	Yes

Keywords

Childhood onset
Lingual dystonia
Polyglutamine tract expansion disorder
Spinocerebellar ataxia type 3
Tongue dystonia

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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10.7916/tohm.v0.704

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title = "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 = "Childhood onset, Lingual dystonia, Polyglutamine tract expansion disorder, Spinocerebellar ataxia type 3, Tongue dystonia",

author = "Nester Mitchell and Latouche, {Gaynel A.} and Beverly Nelson and Figueroa, {Karla P.} and Walker, {Ruth H.} and Sobering, {Andrew K.}",

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year = "2019",

doi = "10.7916/tohm.v0.704",

language = "English (US)",

volume = "9",

pages = "1--4",

journal = "Tremor and Other Hyperkinetic Movements",

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T1 - Childhood-onset spinocerebellar ataxia 3

T2 - Tongue dystonia as an early manifestation

AU - Mitchell, Nester

AU - Latouche, Gaynel A.

AU - Nelson, Beverly

AU - Figueroa, Karla P.

AU - Walker, Ruth H.

AU - Sobering, Andrew K.

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

KW - Childhood onset

KW - Lingual dystonia

KW - Polyglutamine tract expansion disorder

KW - Spinocerebellar ataxia type 3

KW - Tongue dystonia

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Childhood-onset spinocerebellar ataxia 3: Tongue dystonia as an early manifestation

Abstract

Keywords

ASJC Scopus subject areas

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