A hereditary DYSTONIA where symptoms similar to those of PARKINSON DISEASE arise in early childhood; it responds favorably to treatment with LEVODOPA. Germline mutations in the GCH1 gene have been identified. OMIM: 128230
Also Known As:
Dystonia, Dopa-responsive; Dopa-Responsive Dystonia; Dopa-responsive dystonia, autosomal dominant; Dystonia 5; Dystonia, Dopa-responsive, autosomal dominant; Dystonia, progressive, with diurnal variation; Dystonia-Parkinsonism with diurnal fluctuation; Hereditary Progressive Dystonia with Marked Diurnal Fluctuation; Segawa syndrome, autosomal dominant