Dopa-responsive dystonia

also: DRD; Segawa syndrome

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

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
Alternative names & eponyms: DRD; Segawa syndrome

Reduced tetrahydrobiopterin synthesis impairs dopamine synthesis.

DNAJC12 GCH1 PCBD1 PTS QDPR SPR TH

In plain terms, someone with Dopa-responsive dystonia may experience the following — click any to explore related syndromes:

diurnal fluctuation gait disturbance levodopa response lower limb dystonia parkinsonism (later)

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None.

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