ORPHA:98808

Autosomal dominant dopa-responsive dystonia

Also called Autosomal dominant Segawa syndrome, DYT5a, GTPCH1-deficient DRD, GTPCH1-deficient dopa-responsive dystonia, HPD with marked diurnal fluctuation, Hereditary progressive dystonia with marked diurnal fluctuation

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal dominant, Not applicable

Typical age of onset

Childhood

Estimated prevalence

1-9 / 1 000 000 (Europe)

Rarity class

1-9 / 1 000 000

ORPHA:98808 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.