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A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment

BACKGROUND: Mutations in the GCH-1 gene are associated with Autosomal Dominant Dopamine Responsive Dystonia (DYT 5). One of the hallmarks of this condition is dramatic and sustained response to low doses of levodopa. CASE REPORT: We present the case of a 22 year old female patient with genetically c...

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Autores principales: Bradley, Maeve, Lyons, Shane, Coleman, Sarah, Vance, Roisin, Molloy, Fiona, Widdess-Walsh, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8231451/
https://www.ncbi.nlm.nih.gov/pubmed/34221698
http://dx.doi.org/10.5334/tohm.619
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author Bradley, Maeve
Lyons, Shane
Coleman, Sarah
Vance, Roisin
Molloy, Fiona
Widdess-Walsh, Peter
author_facet Bradley, Maeve
Lyons, Shane
Coleman, Sarah
Vance, Roisin
Molloy, Fiona
Widdess-Walsh, Peter
author_sort Bradley, Maeve
collection PubMed
description BACKGROUND: Mutations in the GCH-1 gene are associated with Autosomal Dominant Dopamine Responsive Dystonia (DYT 5). One of the hallmarks of this condition is dramatic and sustained response to low doses of levodopa. CASE REPORT: We present the case of a 22 year old female patient with genetically confirmed GCH-1 Dopa-Responsive Dystonia who had no response to low dose Levodopa but who achieved symptom control on a total dose of 900 mg/day. DISCUSSION: Autosomal Dominant Dopa-Responsive Dystonia is a phenotypical heterogenous condition that, in some cases, may require high doses of levodopa for treatment response. HIGHLIGHTS: Mutations in the GCH-1 gene are associated with Autosomal Dominant Dopamine Responsive Dystonia which is typically defined by dramatic responses to low doses of levodopa. We report a patient with genetically confirmed Dopa-Responsive Dystonia who had no response to low dose Levodopa but who achieved symptom control with 900 mg/day.
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spelling pubmed-82314512021-07-01 A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment Bradley, Maeve Lyons, Shane Coleman, Sarah Vance, Roisin Molloy, Fiona Widdess-Walsh, Peter Tremor Other Hyperkinet Mov (N Y) Case Report BACKGROUND: Mutations in the GCH-1 gene are associated with Autosomal Dominant Dopamine Responsive Dystonia (DYT 5). One of the hallmarks of this condition is dramatic and sustained response to low doses of levodopa. CASE REPORT: We present the case of a 22 year old female patient with genetically confirmed GCH-1 Dopa-Responsive Dystonia who had no response to low dose Levodopa but who achieved symptom control on a total dose of 900 mg/day. DISCUSSION: Autosomal Dominant Dopa-Responsive Dystonia is a phenotypical heterogenous condition that, in some cases, may require high doses of levodopa for treatment response. HIGHLIGHTS: Mutations in the GCH-1 gene are associated with Autosomal Dominant Dopamine Responsive Dystonia which is typically defined by dramatic responses to low doses of levodopa. We report a patient with genetically confirmed Dopa-Responsive Dystonia who had no response to low dose Levodopa but who achieved symptom control with 900 mg/day. Ubiquity Press 2021-06-24 /pmc/articles/PMC8231451/ /pubmed/34221698 http://dx.doi.org/10.5334/tohm.619 Text en Copyright: © 2021 The Author(s) https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License (CC-BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. See http://creativecommons.org/licenses/by/4.0/.
spellingShingle Case Report
Bradley, Maeve
Lyons, Shane
Coleman, Sarah
Vance, Roisin
Molloy, Fiona
Widdess-Walsh, Peter
A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment
title A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment
title_full A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment
title_fullStr A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment
title_full_unstemmed A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment
title_short A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment
title_sort case of gch-1 mutation dopa-responsive dystonia requiring high doses of levodopa for treatment
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8231451/
https://www.ncbi.nlm.nih.gov/pubmed/34221698
http://dx.doi.org/10.5334/tohm.619
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