obsolete dystonia, DOPA-responsive

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.

Also known as: Autosomal dominant Segawa syndrome; DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT; DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT; DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION; DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION