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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | Hereditary episodic ataxia | |
| Synonyms |
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| Definitions |
Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_211062 |
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| definition |
Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2.
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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=211062 |
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| hasDbXref |
MeSH:C580065 ICD-11:8A03.14
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| label |
Hereditary episodic ataxia
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| notation |
ORPHA:211062 Category
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| prefixIRI |
ORDO:Orphanet_211062
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| prefLabel |
Hereditary episodic ataxia
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| present_in |
Worldwide AND has_point_prevalence_range : 1-9 / 100 000
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| subClassOf |
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