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 dyston...

Descripción completa

Detalles Bibliográficos
Autores principales: Mitchell, Nester, LaTouche, Gaynel A., Nelson, Beverly, Figueroa, Karla P., Walker, Ruth H., Sobering, Andrew K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744815/
https://www.ncbi.nlm.nih.gov/pubmed/31565539
http://dx.doi.org/10.7916/tohm.v0.704
_version_ 1783451453859299328
author Mitchell, Nester
LaTouche, Gaynel A.
Nelson, Beverly
Figueroa, Karla P.
Walker, Ruth H.
Sobering, Andrew K.
author_facet Mitchell, Nester
LaTouche, Gaynel A.
Nelson, Beverly
Figueroa, Karla P.
Walker, Ruth H.
Sobering, Andrew K.
author_sort Mitchell, Nester
collection PubMed
description 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.
format Online
Article
Text
id pubmed-6744815
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Columbia University Libraries/Information Services
record_format MEDLINE/PubMed
spelling pubmed-67448152019-09-27 Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation Mitchell, Nester LaTouche, Gaynel A. Nelson, Beverly Figueroa, Karla P. Walker, Ruth H. Sobering, Andrew K. Tremor Other Hyperkinet Mov (N Y) Case Report 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. Columbia University Libraries/Information Services 2019-09-13 /pmc/articles/PMC6744815/ /pubmed/31565539 http://dx.doi.org/10.7916/tohm.v0.704 Text en © 2019 Mitchell et al. https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommercial–No Derivatives License, which permits the user to copy, distribute, and transmit the work provided that the original authors and source are credited; that no commercial use is made of the work; and that the work is not altered or transformed.
spellingShingle Case Report
Mitchell, Nester
LaTouche, Gaynel A.
Nelson, Beverly
Figueroa, Karla P.
Walker, Ruth H.
Sobering, Andrew K.
Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation
title Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation
title_full Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation
title_fullStr Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation
title_full_unstemmed Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation
title_short Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation
title_sort childhood-onset spinocerebellar ataxia 3: tongue dystonia as an early manifestation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744815/
https://www.ncbi.nlm.nih.gov/pubmed/31565539
http://dx.doi.org/10.7916/tohm.v0.704
work_keys_str_mv AT mitchellnester childhoodonsetspinocerebellarataxia3tonguedystoniaasanearlymanifestation
AT latouchegaynela childhoodonsetspinocerebellarataxia3tonguedystoniaasanearlymanifestation
AT nelsonbeverly childhoodonsetspinocerebellarataxia3tonguedystoniaasanearlymanifestation
AT figueroakarlap childhoodonsetspinocerebellarataxia3tonguedystoniaasanearlymanifestation
AT walkerruthh childhoodonsetspinocerebellarataxia3tonguedystoniaasanearlymanifestation
AT soberingandrewk childhoodonsetspinocerebellarataxia3tonguedystoniaasanearlymanifestation

Ejemplares similares