TH-deficient dopa-responsive dystonia
TH-deficient dopa-responsive dystonia
Definition
Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
Also known as autosomal recessive dopa-responsive dystonia, autosomal recessive Segawa syndrome, Dopa-responsive dystonia, autosomal recessive, DYT5b, Segawa syndrome, recessive, tyrosine hydroxylase-deficient dopa-responsive dystonia — per MONDO