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Dopa-responsive dystonia

MONDO:0016812

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.

Also known as: DYT5 dystonia, HPD with diurnal fluctuation, Segawa's disease, dopa-responsive dystonia, hereditary progressive dystonia with diurnal fluctuation, DYT-GCH1 (subtype), DYT-SPR (subtype), DYT-TH (subtype)

12 clinical trials for this condition and its sub-types.

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Sub-types

Dopa-responsive dystonia due to sepiapterin reductase deficiency (1) TH-deficient dopa-responsive dystonia (1) Autosomal dominant dopa-responsive dystonia (0) Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation (0) Dystonia 5 (0) Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive (0) Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism (0)

Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Human disease (14) Disease by body system or component (0) Disease by developmental or physiological process (0)
Trials to join now! 8 Not yet recruiting 1 Not yet finished but already full! 1 Completed 2
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