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