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Episodic ataxia type 4(EA4; PATX)

MedGen UID:
376222
Concept ID:
C1847843
Disease or Syndrome
Synonym: ATAXIA, PERIODIC VESTIBULOCEREBELLAR
SNOMED CT: Episodic ataxia type 4 (718754008); Periodic vestibulocerebellar ataxia (718754008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0011681
OMIM®: 606552
Orphanet: ORPHA79136

Definition

A very rare form of hereditary episodic ataxia with characteristics of late-onset episodic ataxia, recurrent attacks of vertigo and diplopia. [from SNOMEDCT_US]

Clinical features

From HPO
Nausea
MedGen UID:
10196
Concept ID:
C0027497
Sign or Symptom
A sensation of unease in the stomach together with an urge to vomit.
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Hereditary episodic ataxia
MedGen UID:
314033
Concept ID:
C1720189
Disease or Syndrome
Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.
Diplopia
MedGen UID:
41600
Concept ID:
C0012569
Disease or Syndrome
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
Esophoria
MedGen UID:
57753
Concept ID:
C0152216
Disease or Syndrome
A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.
Abnormality of ocular smooth pursuit
MedGen UID:
322909
Concept ID:
C1836393
Finding
An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.
Gaze-evoked nystagmus
MedGen UID:
1808161
Concept ID:
C5574666
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.

Recent clinical studies

Clinical prediction guides

Coin JT, Vance JM
Mov Disord 2021 May;36(5):1264-1267. Epub 2021 Jan 16 doi: 10.1002/mds.28491. PMID: 33452831

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