Term Name: | dystonia, DOPA-responsive |
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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 gene encoding GTP cyclohydrolase I (GCH1; 600225) on chromosome 14q13. |
Ontology: | Human Disease [DOID:0060963] ( DOID:0060963 ) |