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. The disease is TH-deficient dopa-responsive dystonia (Monarch Disease Ontology entry MONDO_0011551). Also known as: DYT5b, Dopa-responsive dystonia, autosomal recessive, Segawa syndrome, recessive, Tyrosine Hydroxylase Deficiency, autosomal recessive Segawa syndrome, autosomal recessive dopa-responsive dystonia, dopa-responsive dystonia, autosomal recessive, tyrosine hydroxylase-deficient dopa-responsive dystonia.