/TH-deficient dopa-responsive dystonia

TH-deficient dopa-responsive dystonia

Rare Disease

MONDO:0011551

Also Known As

DYT5bDopa-responsive dystonia, autosomal recessiveSegawa syndrome, recessiveTyrosine Hydroxylase Deficiencyautosomal recessive Segawa syndromeautosomal recessive dopa-responsive dystoniadopa-responsive dystonia, autosomal recessivetyrosine hydroxylase-deficient dopa-responsive dystoniaDOPA responsive dystonia, autosomal recessiveParkinsonism, infantile, autosomal recessiveSegawa syndrome, autosomal recessivedystonia, DOPA responsive, autosomal recessivedystonia, Dopa-responsive, autosomal recessive

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.