dopa-responsive dystonia
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.
MONDO:0005066
metabolic disease
is_a
MONDO:0005071
nervous system disorder
is_a
DYT-GCH1 (subtype)
related
DYT-SPR (subtype)
related
DYT-TH (subtype)
related
DYT5
related
DYT5 dystonia
exact
HPD with diurnal fluctuation
exact
Segawa's disease
exact
dopa-responsive dystonia
exact
hereditary progressive dystonia with diurnal fluctuation
exact
SPAC17A5.13