Dopa-responsive dystonia

Orpha code: 255OMIM code:

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.

Disease data
Classification

Clinical group

Synonyms
HPD with diurnal fluctuation
Dziedziczna postępująca dystonia z wahaniami dobowymi
HPD z wahaniami dobowymi
Hereditary progressive dystonia with diurnal fluctuation
ORPHA code
255
OMIM code
-
ICD10 code
G24.8
ICD11 code
8A02.11

No additional description.

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