Episodic ataxia type 3

General Information (adopted from Orphanet):

Synonyms, Signs: ATAXIA, EPISODIC, WITH VERTIGO AND TINNITUS
EA3
Number of Symptoms 12
OrphanetNr: 79135
OMIM Id: 606554
ICD-10: G11.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [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: Sort by abundance 

1
(HPO:0000651) Diplopia 37 / 7739
2
(HPO:0000360) Tinnitus 29 / 7739
3
(HPO:0002321) Vertigo 58 / 7739
4
(HPO:0002131) Episodic ataxia 16 / 7739
5
(HPO:0002315) Headache 175 / 7739
6
(HPO:0002411) Myokymia 10 / 7739
7
(HPO:0002018) Nausea 44 / 7739
8
(HPO:0002013) Vomiting 191 / 7739
9
(HPO:0001324) Muscle weakness 859 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(HPO:0003674) Onset 32 / 7739
12
(OMIM) Visual blurring 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Steckley et al. (2001) presented a large Canadian kindred of Mennonite heritage with an autosomal dominant episodic ataxia clinically distinct from other reported episodic ataxias. Vestibular ataxia, vertigo, tinnitus, and interictal myokymia were prominent. Attacks were diminished by ...