Dystonia 5
Dystonia 5
Definition
An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene.
Also known as Dopa-responsive dystonia, autosomal dominant, dystonia 5, dystonia type 5, dystonia-Parkinsonism with diurnal fluctuation, dystonia, Dopa-responsive, autosomal dominant, dystonia, DOPA-responsive, with or without hyperphenylalaninemia, dystonia, progressive, with diurnal variation, DYT-GCH1, GTP cyclohydrolase 1-deficient dopa-responsive dystonia, Segawa Syndrome, Segawa syndrome, autosomal dominant — per MONDO