GTP cyclohydrolase-1 (GCH1)-deficient dystonia (DYT-GCH1/DYT5) is an autosomal-dominant dopa-responsive dystonia (DRD) of childhood onset typically presenting with foot dystonia progressing to generalized dystonia and parkinsonism with diurnal fluctua...
GTP cyclohydrolase-1 (GCH1)-deficient dystonia (DYT-GCH1/DYT5) is an autosomal-dominant dopa-responsive dystonia (DRD) of childhood onset typically presenting with foot dystonia progressing to generalized dystonia and parkinsonism with diurnal fluctuation and a dramatic and persistent response to levodopa (LD)