Episodic ataxia type 4
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ATAXIA, PERIODIC VESTIBULOCEREBELLAR PATX EA4 periodic vestibulocerebellar ataxia |
| Number of Symptoms | 12 |
| OrphanetNr: | 79136 |
| OMIM Id: |
606552
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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: | 2 families [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Adult [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:0000617) | Abnormality of ocular smooth pursuit | 6 / 7739 | ||||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0000651) | Diplopia | 37 / 7739 | ||||
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(HPO:0002321) | Vertigo | 58 / 7739 | ||||
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(HPO:0000360) | Tinnitus | 29 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0002131) | Episodic ataxia | 16 / 7739 | ||||
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(HPO:0002018) | Nausea | 44 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(MedDRA:10052087) | Oscillopsia | 3 / 7739 | ||||
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(OMIM) | Inability to suppress vestibuloocular reflex (VOR) | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
In 16 members of a white, rural North Carolina family, Farmer and Mustian (1963) described recurrent attacks of vertigo, diplopia, and ataxia beginning in early adulthood. Slowly progressive cerebellar ataxia occurred in some. Vance et al. (1984) identified ... |