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Episodic ataxia type 7(EA7)

MedGen UID:
383209
Concept ID:
C2677843
Disease or Syndrome
Synonym: Episodic Ataxia, Type 7
SNOMED CT: Episodic ataxia type 7 (718752007)
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:0012755
OMIM®: 611907
Orphanet: ORPHA209970

Definition

Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement and coordination. People with episodic ataxia have episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraines, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis that affect one side of the body (hemiplegia) may also occur during these episodes. 

Additionally, a muscle abnormality called myokymia or an eye abnormality called nystagmus can occur during or between episodes. Myokymia causes muscle cramping; stiffness; or continuous, fine muscle twitching that appears as rippling under the skin. Nystagmus refers to rapid, involuntary eye movements.

Episodes of ataxia and other symptoms can begin anytime from early childhood to adulthood. They can be triggered by environmental factors such as stress, caffeine, alcohol, certain medications, physical activity, and illness. The duration of episodes may vary from seconds to days, and the frequency ranges from several episodes per day to one or two every few months. Between episodes, affected individuals may have no signs or symptoms. However, some continue to experience ataxia, which may worsen over time.

Researchers have identified at least 11 types of episodic ataxia, distinguished by their pattern of signs and symptoms, age of onset, length of episodes, and genetic cause.

Some children with episodic ataxia have delayed development of speech or motor skills, such as standing and walking. They may also have learning difficulties. [from MedlinePlus Genetics]

Clinical features

From HPO
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
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.

Recent clinical studies

Etiology

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
Strupp M, Thurtell MJ, Shaikh AG, Brandt T, Zee DS, Leigh RJ
J Neurol 2011 Jul;258(7):1207-22. Epub 2011 Apr 2 doi: 10.1007/s00415-011-5999-8. PMID: 21461686Free PMC Article
Helmich RC, Siebner HR, Giffin N, Bestmann S, Rothwell JC, Bloem BR
Brain 2010 Dec;133(Pt 12):3519-29. doi: 10.1093/brain/awq315. PMID: 21126994
Rajakulendran S, Graves TD, Labrum RW, Kotzadimitriou D, Eunson L, Davis MB, Davies R, Wood NW, Kullmann DM, Hanna MG, Schorge S
J Physiol 2010 Jun 1;588(Pt 11):1905-13. Epub 2010 Feb 15 doi: 10.1113/jphysiol.2009.186437. PMID: 20156848Free PMC Article

Diagnosis

Choi JH, Oh EH, Choi SY, Kim HJ, Lee SK, Choi JY, Kim JS, Choi KD
J Neurol 2022 May;269(5):2687-2695. Epub 2021 Oct 28 doi: 10.1007/s00415-021-10856-4. PMID: 34709445
Sintas C, Carreño O, Fernàndez-Castillo N, Corominas R, Vila-Pueyo M, Toma C, Cuenca-León E, Barroeta I, Roig C, Volpini V, Macaya A, Cormand B
Sci Rep 2017 May 31;7(1):2514. doi: 10.1038/s41598-017-02554-x. PMID: 28566750Free PMC Article
Ohshiro-Sasaki A, Shimbo H, Takano K, Wada T, Osaka H
Pediatr Neurol 2014 Jan;50(1):99-100. Epub 2013 Nov 5 doi: 10.1016/j.pediatrneurol.2013.09.002. PMID: 24200040
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
Strupp M, Thurtell MJ, Shaikh AG, Brandt T, Zee DS, Leigh RJ
J Neurol 2011 Jul;258(7):1207-22. Epub 2011 Apr 2 doi: 10.1007/s00415-011-5999-8. PMID: 21461686Free PMC Article

Therapy

Schesny M, Joncourt F, Tarnutzer AA
Cerebellum 2019 Jun;18(3):649-653. doi: 10.1007/s12311-018-0997-3. PMID: 30607796
Kalla R, Strupp M
Curr Neuropharmacol 2019;17(1):7-13. doi: 10.2174/1570159X16666180905093535. PMID: 30182858Free PMC Article
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

Prognosis

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
Jung BC, Choi SI, Du AX, Cuzzocreo JL, Geng ZZ, Ying HS, Perlman SL, Toga AW, Prince JL, Ying SH
Cerebellum 2012 Dec;11(4):887-95. doi: 10.1007/s12311-011-0334-6. PMID: 22258915Free 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
Helmich RC, Siebner HR, Giffin N, Bestmann S, Rothwell JC, Bloem BR
Brain 2010 Dec;133(Pt 12):3519-29. doi: 10.1093/brain/awq315. PMID: 21126994
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

Izquierdo-Serra M, Fernández-Fernández JM, Serrano M
Pflugers Arch 2020 Jul;472(7):791-809. Epub 2020 May 26 doi: 10.1007/s00424-020-02396-z. PMID: 32458086
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
Schesny M, Joncourt F, Tarnutzer AA
Cerebellum 2019 Jun;18(3):649-653. doi: 10.1007/s12311-018-0997-3. PMID: 30607796
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

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