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: Sort by abundance 

1
(HPO:0002321) Vertigo 58 / 7739
2
(HPO:0002131) Episodic ataxia 16 / 7739
3
(HPO:0001260) Dysarthria 329 / 7739
4
(HPO:0001324) Muscle weakness 859 / 7739
5
(OMIM) Normal interictal neurologic examination 1 / 7739
6
(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. ...