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Episodic ataxia type 3(EA3)

MedGen UID:
376220
Concept ID:
C1847839
Disease or Syndrome
Synonym: ATAXIA, EPISODIC, WITH VERTIGO AND TINNITUS
SNOMED CT: Episodic ataxia type 3 (718755009); Episodic ataxia and vertigo with tinnitus and myokymia syndrome (718755009)
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:0011682
OMIM®: 606554
Orphanet: ORPHA79135

Definition

A very rare form of hereditary episodic ataxia with characteristics of vestibular ataxia, vertigo, tinnitus and interictal myokymia. [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.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
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.
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Myokymia
MedGen UID:
146882
Concept ID:
C0684219
Sign or Symptom
Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
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.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
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.

Professional guidelines

PubMed

Shen Y, Qi X
Neurol Sci 2022 Mar;43(3):1659-1666. Epub 2022 Jan 11 doi: 10.1007/s10072-022-05872-9. PMID: 35015204
Zesiewicz TA, Wilmot G, Kuo SH, Perlman S, Greenstein PE, Ying SH, Ashizawa T, Subramony SH, Schmahmann JD, Figueroa KP, Mizusawa H, Schöls L, Shaw JD, Dubinsky RM, Armstrong MJ, Gronseth GS, Sullivan KL
Neurology 2018 Mar 6;90(10):464-471. Epub 2018 Feb 9 doi: 10.1212/WNL.0000000000005055. PMID: 29440566Free PMC Article
Spiegel R, Rust H, Baumann T, Friedrich H, Sutter R, Göldlin M, Rosin C, Müri R, Mantokoudis G, Bingisser R, Strupp M, Kalla R
Swiss Med Wkly 2017;147:w14566. Epub 2017 Dec 27 doi: 10.4414/smw.2017.14566. PMID: 29282702

Recent clinical studies

Etiology

Humbertclaude V, Riant F, Krams B, Zimmermann V, Nagot N, Annequin D, Echenne B, Tournier-Lasserve E, Roubertie A; Episodic Syndrome Consortium
Dev Med Child Neurol 2020 Mar;62(3):330-337. Epub 2019 May 21 doi: 10.1111/dmcn.14261. PMID: 31115040
Feil K, Strobl R, Schindler A, Krafczyk S, Goldschagg N, Frenzel C, Glaser M, Schöberl F, Zwergal A, Strupp M
Cerebellum 2019 Jun;18(3):320-332. doi: 10.1007/s12311-018-0992-8. PMID: 30552638
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J
Neurology 2016 Nov 8;87(19):1975-1984. Epub 2016 Oct 12 doi: 10.1212/WNL.0000000000003309. PMID: 27733563Free PMC Article
Strupp M, Kremmyda O, Brandt T
Semin Neurol 2013 Jul;33(3):286-96. Epub 2013 Sep 21 doi: 10.1055/s-0033-1354594. PMID: 24057832
Frontali M
Brain Res Bull 2001 Oct-Nov 1;56(3-4):227-31. doi: 10.1016/s0361-9230(01)00574-3. PMID: 11719255

Diagnosis

Shen Y, Qi X
Neurol Sci 2022 Mar;43(3):1659-1666. Epub 2022 Jan 11 doi: 10.1007/s10072-022-05872-9. PMID: 35015204
Richardson R, Baralle D, Bennett C, Briggs T, Bijlsma EK, Clayton-Smith J, Constantinou P, Foulds N, Jarvis J, Jewell R, Johnson DS, McEntagart M, Parker MJ, Radley JA, Robertson L, Ruivenkamp C, Rutten JW, Tellez J, Turnpenny PD, Wilson V, Wright M, Balasubramanian M
Am J Med Genet A 2022 Mar;188(3):867-877. Epub 2021 Dec 11 doi: 10.1002/ajmg.a.62595. PMID: 34894057
De Michele G, Galatolo D, Galosi S, Mignarri A, Silvestri G, Casali C, Leuzzi V, Ricca I, Barghigiani M, Tessa A, Cioffi E, Caputi C, Riso V, Dotti MT, Saccà F, De Michele G, Cocozza S, Filla A, Santorelli FM
J Neurol 2022 Mar;269(3):1476-1484. Epub 2021 Jul 22 doi: 10.1007/s00415-021-10712-5. PMID: 34292398Free PMC Article
Strupp M, Kremmyda O, Brandt T
Semin Neurol 2013 Jul;33(3):286-96. Epub 2013 Sep 21 doi: 10.1055/s-0033-1354594. PMID: 24057832
Kotagal V
Semin Neurol 2012 Nov;32(5):533-7. Epub 2013 May 15 doi: 10.1055/s-0033-1334475. PMID: 23677664

Therapy

Choi KD, Jen JC, Choi SY, Shin JH, Kim HS, Kim HJ, Kim JS, Choi JH
J Hum Genet 2017 Mar;62(3):443-446. Epub 2016 Nov 10 doi: 10.1038/jhg.2016.137. PMID: 27829685
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J
Neurology 2016 Nov 8;87(19):1975-1984. Epub 2016 Oct 12 doi: 10.1212/WNL.0000000000003309. PMID: 27733563Free PMC Article
Çelebisoy N, Gökçay F, Karahan C, Bilgen C, Kirazlı T, Karapolat H, Köse T
Eur Arch Otorhinolaryngol 2016 Oct;273(10):2947-51. Epub 2016 Jan 4 doi: 10.1007/s00405-015-3874-4. PMID: 26728486
Kotagal V
Semin Neurol 2012 Nov;32(5):533-7. Epub 2013 May 15 doi: 10.1055/s-0033-1334475. PMID: 23677664
Huppert D, Strupp M, Mückter H, Brandt T
Acta Otolaryngol 2011 Mar;131(3):228-41. Epub 2010 Dec 13 doi: 10.3109/00016489.2010.531052. PMID: 21142898

Prognosis

Richardson R, Baralle D, Bennett C, Briggs T, Bijlsma EK, Clayton-Smith J, Constantinou P, Foulds N, Jarvis J, Jewell R, Johnson DS, McEntagart M, Parker MJ, Radley JA, Robertson L, Ruivenkamp C, Rutten JW, Tellez J, Turnpenny PD, Wilson V, Wright M, Balasubramanian M
Am J Med Genet A 2022 Mar;188(3):867-877. Epub 2021 Dec 11 doi: 10.1002/ajmg.a.62595. PMID: 34894057
Choi KD, Jen JC, Choi SY, Shin JH, Kim HS, Kim HJ, Kim JS, Choi JH
J Hum Genet 2017 Mar;62(3):443-446. Epub 2016 Nov 10 doi: 10.1038/jhg.2016.137. PMID: 27829685
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J
Neurology 2016 Nov 8;87(19):1975-1984. Epub 2016 Oct 12 doi: 10.1212/WNL.0000000000003309. PMID: 27733563Free PMC Article
Strupp M, Kalla R, Claassen J, Adrion C, Mansmann U, Klopstock T, Freilinger T, Neugebauer H, Spiegel R, Dichgans M, Lehmann-Horn F, Jurkat-Rott K, Brandt T, Jen JC, Jahn K
Neurology 2011 Jul 19;77(3):269-75. Epub 2011 Jul 6 doi: 10.1212/WNL.0b013e318225ab07. PMID: 21734179Free PMC Article
Wuttke TV, Jurkat-Rott K, Paulus W, Garncarek M, Lehmann-Horn F, Lerche H
Neurology 2007 Nov 27;69(22):2045-53. Epub 2007 Sep 13 doi: 10.1212/01.wnl.0000275523.95103.36. PMID: 17872363

Clinical prediction guides

Ågren R, Geerdink N, Brunner HG, Paucar M, Kamsteeg EJ, Sahlholm K
Int J Mol Sci 2023 Jun 30;24(13) doi: 10.3390/ijms241310924. PMID: 37446101Free PMC Article
Richardson R, Baralle D, Bennett C, Briggs T, Bijlsma EK, Clayton-Smith J, Constantinou P, Foulds N, Jarvis J, Jewell R, Johnson DS, McEntagart M, Parker MJ, Radley JA, Robertson L, Ruivenkamp C, Rutten JW, Tellez J, Turnpenny PD, Wilson V, Wright M, Balasubramanian M
Am J Med Genet A 2022 Mar;188(3):867-877. Epub 2021 Dec 11 doi: 10.1002/ajmg.a.62595. PMID: 34894057
Humbertclaude V, Riant F, Krams B, Zimmermann V, Nagot N, Annequin D, Echenne B, Tournier-Lasserve E, Roubertie A; Episodic Syndrome Consortium
Dev Med Child Neurol 2020 Mar;62(3):330-337. Epub 2019 May 21 doi: 10.1111/dmcn.14261. PMID: 31115040
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J
Neurology 2016 Nov 8;87(19):1975-1984. Epub 2016 Oct 12 doi: 10.1212/WNL.0000000000003309. PMID: 27733563Free PMC Article
Graves TD, Cha YH, Hahn AF, Barohn R, Salajegheh MK, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG; CINCH Investigators
Brain 2014 Apr;137(Pt 4):1009-18. Epub 2014 Feb 26 doi: 10.1093/brain/awu012. PMID: 24578548Free PMC Article

Recent systematic reviews

Zesiewicz TA, Wilmot G, Kuo SH, Perlman S, Greenstein PE, Ying SH, Ashizawa T, Subramony SH, Schmahmann JD, Figueroa KP, Mizusawa H, Schöls L, Shaw JD, Dubinsky RM, Armstrong MJ, Gronseth GS, Sullivan KL
Neurology 2018 Mar 6;90(10):464-471. Epub 2018 Feb 9 doi: 10.1212/WNL.0000000000005055. PMID: 29440566Free PMC Article

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