| Term Name: | obsolete dystonia, DOPA-responsive |
|---|---|
| Synonyms: | Autosomal dominant Segawa syndrome, DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT, DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT, DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION, DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION, GTPCH1-deficient dopa-responsive dystonia, GTPCH1-deficient DRD, Hereditary progressive dystonia with marked diurnal fluctuation, HPD with marked diurnal fluctuation |
| Definition: | A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. |
| Ontology: | Human Disease [DOID:0060963] ( DOID:0060963 ) |
| Obsolete | true |