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Episodic ataxia, type 4(EA4)

MedGen UID:
376222
Concept ID:
C1847843
Disease or Syndrome
Synonyms: ATAXIA, PERIODIC VESTIBULOCEREBELLAR; EA4
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Episodic ataxia type 4 (718754008); Periodic vestibulocerebellar ataxia (718754008)
 
OMIM®: 606552
Orphanet: ORPHA79136

Definition

The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene (or chromosome locus) in which pathogenic variants occur. [from GHR]

Additional description

From GeneReviews
The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In thisGeneReviewthe hereditary ataxias are categorized by mode of inheritance and gene (or chromosome locus) in which pathogenic variants occur.  https://www.ncbi.nlm.nih.gov/books/NBK1138

Clinical features

Diplopia
MedGen UID:
41600
Concept ID:
C0012569
Finding
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
Nausea
MedGen UID:
10196
Concept ID:
C0027497
Sign or Symptom
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Sign or Symptom
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
Esophoria
MedGen UID:
57753
Concept ID:
C0152216
Disease or Syndrome
Gaze-evoked nystagmus
MedGen UID:
75750
Concept ID:
C0271390
Disease or Syndrome
Episodic ataxia
MedGen UID:
314033
Concept ID:
C1720189
Disease or Syndrome
Abnormality of ocular smooth pursuit
MedGen UID:
322909
Concept ID:
C1836393
Finding

Term Hierarchy

Follow this link to review classifications for Episodic ataxia, type 4 in Orphanet.

Professional guidelines

PubMed

Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS.
Eur J Neurol 2010 Feb;17(2):179-88. Epub 2009 Dec 28 doi: 10.1111/j.1468-1331.2009.02873.x. PMID: 20050888

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