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

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