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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Autosomal dominant dopa-responsive dystonia | |
| Synonyms |
GTPCH1-deficient DRD Hereditary progressive dystonia with marked diurnal fluctuation HPD with marked diurnal fluctuation DYT5a Autosomal dominant Segawa syndrome GTPCH1-deficient dopa-responsive dystonia |
|
| Definitions |
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_98808 |
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| alternative_term |
GTPCH1-deficient DRD Hereditary progressive dystonia with marked diurnal fluctuation HPD with marked diurnal fluctuation DYT5a Autosomal dominant Segawa syndrome GTPCH1-deficient dopa-responsive dystonia
|
|
| definition |
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98808 |
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| has_age_of_onset |
Childhood
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| has_inheritance |
Not applicable Autosomal dominant
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|
| hasDbXref |
ICD-10:G24.1 ICD-11:8A02.11 OMIM:128230 OMIM:619911
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| label |
Autosomal dominant dopa-responsive dystonia
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|
| notation |
ORPHA:98808
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_98808
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|
| prefLabel |
Autosomal dominant dopa-responsive dystonia
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|
| present_in |
Europe AND has_point_prevalence_range : 1-9 / 1 000 000
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| treeView | ||
| subClassOf |
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