Dopa-responsive dystonia (DRD) is a rare inherited disorder characterized by childhood-onset dystonia with diurnal fluctuation and dramatic response to levodopa.
All the subjects except for one family had typical manifestations of autosomal dominant GTPCH-I deficient DRD including early childhood onset dystonia predominantly in the legs, marked diurnal variation, intact cognition, no other systemic symptoms, and excellent sustained response to levodopa.
Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by childhood-onset dystonia and a dramatic response to relatively low doses of levodopa.
Dopa responsive dystonia (DRD) is a disorder characterised by childhood onset dystonia but a wide range of clinical presentations has now been described.
It is also clear that notwithstanding the discovery of GCH1 and hTH mutations responsible for DRD, there remain many important unresolved issues regarding this disorder, including questions of female predominance, phenotypic heterogeneity, and presence of childhood-onset dystonia versus the expected parkinsonism resulting from a striatal DA deficit.