Episodic ataxia type 7
General Information (adopted from Orphanet):
Synonyms, Signs: |
EA7 |
Number of Symptoms | 6 |
OrphanetNr: | 209970 |
OMIM Id: |
611907
|
ICD-10: |
G11.8 |
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | 7 cases [Orphanet] |
Inheritance: |
Autosomal dominant [Orphanet] |
Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Hereditary episodic ataxia
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
(HPO:0002321) | Vertigo | 58 / 7739 | ||||
|
(HPO:0002131) | Episodic ataxia | 16 / 7739 | ||||
|
(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
|
(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
|
(OMIM) | Normal interictal neurologic examination | 1 / 7739 | ||||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|
Additional Information:
Clinical Description OMIM |
Kerber et al. (2007) reported a 4-generation family in which 7 members had episodic ataxia. Inheritance was autosomal dominant. Onset occurred before age 20 years, and attacks lasted hours to days and were associated with weakness and dysarthria. ... |