Details of Disease
General Information of Disease (ID: DISCW5GN)
| Disease Name | Dopa-responsive dystonia | ||||
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| Synonyms |
DYT-TH (subtype); DYT-SPR (subtype); DYT-GCH1 (subtype); DYT5; DYT5 dystonia; Segawa's disease; HPD with diurnal fluctuation; hereditary progressive dystonia with diurnal fluctuation; dopa-responsive dystonia
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| 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.
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