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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Bibliographic Details
Published in:Tremor Other Hyperkinet Mov (N Y)
Main Authors: Bradley, Maeve, Lyons, Shane, Coleman, Sarah, Vance, Roisin, Molloy, Fiona, Widdess-Walsh, Peter
Format: Artigo
Language:Inglês
Published: Ubiquity Press 2021
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8231451/
https://ncbi.nlm.nih.gov/pubmed/34221698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5334/tohm.619
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