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A reference for what the literature reports. Not medical advice.

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dopa-responsive dystonia

MONDO:0016812Mondo

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Findings

No curated finding names dopa-responsive dystonia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.

Definition from the Mondo Disease Ontology (MONDO:0016812), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: metabolic disease
nervous system disorder
Narrower terms (4): autosomal dominant dopa-responsive dystonia
dopa-responsive dystonia due to sepiapterin reductase deficiency
dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
TH-deficient dopa-responsive dystonia

Other names

4 names

Resolves to: dopa-responsive dystonia

Also called: DYT5 dystoniahereditary progressive dystonia with diurnal fluctuationHPD with diurnal fluctuationSegawa's disease