Dopa-responsive dystonia

rare

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.

Identifiers: MONDO:0016812 Orphanet:255
Part of: Metabolic disease Nervous system disorder
Also known as: DYT-GCH1 (subtype) · DYT-SPR (subtype) · DYT-TH (subtype) · DYT5 · DYT5 dystonia

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Autosomal dominant dopa-responsive dystonia	MONDO:0971063	3
TH-deficient dopa-responsive dystonia	MONDO:0011551		TH
Dopa-responsive dystonia due to sepiapterin reductase deficiency	MONDO:0012994		SPR
Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	MONDO:0100098

Rare disease

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