Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Jump to:
Preferred Name

Dopa-responsive dystonia
Synonyms

HPD with diurnal fluctuation

Hereditary progressive dystonia with diurnal fluctuation
Definitions

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.
ID

http://www.orpha.net/ORDO/Orphanet_255
alternative_term

HPD with diurnal fluctuation

Hereditary progressive dystonia with diurnal fluctuation
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_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=255
has_age_of_onset

Childhood
has_inheritance

Not applicable

Autosomal recessive

Autosomal dominant
hasDbXref

ICD-11:8A02.11

MedDRA:10080034

MeSH:C538007

UMLS:C1851920
label

Dopa-responsive dystonia
notation

Clinical group

ORPHA:255
prefixIRI

ORDO:Orphanet_255
prefLabel

Dopa-responsive dystonia
present_in

Worldwide AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000

Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000
subClassOf

http://www.orpha.net/ORDO/Orphanet_309819

http://www.orpha.net/ORDO/Orphanet_391711

http://www.orpha.net/ORDO/Orphanet_557492
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping