Dopa-responsive dystonia

Also known as: DRD; Segawa syndrome

Childhood-onset dystonia with diurnal fluctuation and marked levodopa response.

Medical specialty: Neurology
Subspecialty: Neurology / Movement disorders; Neurogenetics
Sex & age distribution: Male: affected; Female: more common (about 4:1, GCH1); Children: yes, onset in childhood
Gene(s) involved: DNAJC12, GCH1, PCBD1, PTS, QDPR, SPR, TH

Etiology & mechanism

Reduced tetrahydrobiopterin synthesis impairs dopamine synthesis.

Gene(s) involved (7)

DNAJC12GCH1PCBD1PTSQDPRSPRTH

Symptoms & signs (5)

diurnal fluctuationgait disturbancelevodopa responselower limb dystoniaparkinsonism (later)

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.