ORPHA:101150

Autosomal recessive dopa-responsive dystonia

Also called Autosomal recessive Segawa syndrome, DYT5b, Tyrosine hydroxylase deficiency, Tyrosine hydroxylase-deficient dopa-responsive dystonia

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

1-9 / 1 000 000 (Europe)

Rarity class

1-9 / 1 000 000

ORPHA:101150 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.