Episodic ataxia type 5
General Information (adopted from Orphanet):
| Synonyms, Signs: |
EA5 |
| Number of Symptoms | 4 |
| OrphanetNr: | 211067 |
| OMIM Id: |
613855
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| ICD-10: |
G11.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 7 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Hereditary episodic ataxia
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000640) | Gaze-evoked nystagmus | 27 / 7739 | ||||
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(HPO:0002131) | Episodic ataxia | 16 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Escayg et al. (2000) reported a French Canadian family segregating episodic ataxia. The proband, after age 20 years, experienced recurrent episodes of vertigo and ataxia that lasted for several hours. Interictal examination showed spontaneous downbeat and gaze-evoked nystagmus ... |
| Molecular genetics OMIM |
In affected members of a French Canadian family segregating episodic ataxia, Escayg et al. (2000) identified heterozygosity for a missense mutation in the CACNB4 gene (601949.0002). Herrmann et al. (2005) referred to the form of ataxia caused by ... |