Article
A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment.
Tremor and other hyperkinetic movements (New York, N.Y.) - 24 Jun 2021
Bradley Maeve, Lyons Shane, Coleman Sarah, Vance Roisin, Molloy Fiona, Widdess-Walsh Peter
Abstract excerpt
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...
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