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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Ubiquity Press
2021
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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. |
format | Online Article Text |
id | pubmed-8231451 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Ubiquity Press |
record_format | MEDLINE/PubMed |
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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