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Episodic ataxia type 1(EA1)

MedGen UID:
318554
Concept ID:
C1719788
Disease or Syndrome
Synonyms: ATAXIA, EPISODIC, WITH MYOKYMIA; EA1; MYOKYMIA WITH PERIODIC ATAXIA; PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Episodic ataxia type 1 (421182009); Episodic ataxia type 1 (EA1) (421182009)
 
Gene: KCNA1
Cytogenetic location: 12p13.32
OMIM®: 160120
Orphanet: ORPHA37612

Definition

Episodic ataxia type 1 (EA1) is a potassium channelopathy characterized by constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance. During attacks some individuals may experience vertigo, blurred vision, diplopia, nausea, headache, diaphoresis, clumsiness, stiffening of the body, dysarthric speech, and difficulty in breathing. EA1 is associated with an increased incidence of epilepsy. Other findings can include delayed motor development, cognitive disability, choreoathetosis, and carpal spasm. Onset is in childhood or early adolescence. [from GeneReviews]

Additional descriptions

From OMIM
Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007). Genetic Heterogeneity of Episodic Ataxia Episodic ataxia is a genetically heterogeneous disorder. See also EA2 (108500), caused by mutation in the CACNA1A gene (601011) on chromosome 19p13; EA3 (606554), which maps to chromosome 1q42; EA4 (606552); EA5, caused by mutation in the CACNB4 gene (601949) on chromosome 2q22-q23; EA6 (612656), caused by mutation in the SLC1A3 gene (600111) on chromosome 5p13; EA7 (611907), which maps to chromosome 19q13; and EA8 (616055), which maps to chromosome 1p36-p34. Isolated myokymia-2 (see 121200) is associated with mutation in the KCNQ2 gene (602235).  http://www.omim.org/entry/160120
From GHR
Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Additionally, some affected individuals have a muscle abnormality called myokymia during or between episodes. This abnormality can cause muscle cramping, stiffness, and continuous, fine muscle twitching that appears as rippling under the skin. Episodes of ataxia and other symptoms can begin anytime from early childhood to adulthood. They can be triggered by environmental factors such as emotional stress, caffeine, alcohol, certain medications, physical activity, and illness. The frequency of attacks ranges from several per day to one or two per year. Between episodes, some affected individuals continue to experience ataxia, which may worsen over time, as well as involuntary eye movements called nystagmus. Researchers have identified at least seven types of episodic ataxia, designated type 1 through type 7. The types are distinguished by their pattern of signs and symptoms, age of onset, length of attacks, and, when known, genetic cause.  http://ghr.nlm.nih.gov/condition/episodic-ataxia

Clinical features

Blurred vision
MedGen UID:
504528
Concept ID:
CN000584
Finding
Lack of sharpness of vision resulting in the inability to see fine detail.
Vertigo
MedGen UID:
500924
Concept ID:
CN002108
Finding
An abnormal sensation of spinning while the body is actually stationary.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
An abnormal reflex consisting of dorsiflexion of the great toe and abduction of the other toes in response to cutaneous stimulation of the plantar surface of the foot.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Spastic gait
MedGen UID:
115907
Concept ID:
C0231687
Finding
Slurred speech
MedGen UID:
65885
Concept ID:
C0234518
Finding
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
Dysarthria
MedGen UID:
333395
Concept ID:
C1839743
Finding
Incoordination
MedGen UID:
351047
Concept ID:
C1864113
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Headache
MedGen UID:
472355
Concept ID:
C2096315
Finding
Tremor
MedGen UID:
776582
Concept ID:
C2364114
Finding
Episodic ataxia
MedGen UID:
505117
Concept ID:
CN001931
Finding
Periodic spells of incoordination and imbalance.
Neurological speech impairment
MedGen UID:
446437
Concept ID:
CN001964
Finding
Myokymia
MedGen UID:
505229
Concept ID:
CN002190
Finding
Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle.
Abnormality of movement
MedGen UID:
506445
Concept ID:
CN116921
Finding
An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
Congenital diaphragmatic hernia
MedGen UID:
500895
Concept ID:
CN000730
Finding
The presence of a hernia of the diaphragm present at birth.
Elevated serum creatine phosphokinase
MedGen UID:
505493
Concept ID:
CN002923
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Congenital diaphragmatic hernia
MedGen UID:
500895
Concept ID:
CN000730
Finding
The presence of a hernia of the diaphragm present at birth.
Spastic gait
MedGen UID:
115907
Concept ID:
C0231687
Finding
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
EMG abnormality
MedGen UID:
99199
Concept ID:
C0476403
Finding
Congenital diaphragmatic hernia
MedGen UID:
500895
Concept ID:
CN000730
Finding
The presence of a hernia of the diaphragm present at birth.
Abnormality of the hand
MedGen UID:
427857
Concept ID:
CN001087
Finding
An abnormality affecting one or both hands.

Term Hierarchy

Recent clinical studies

Etiology

Tan SV, Wraige E, Lascelles K, Bostock H
Dev Med Child Neurol 2013 Oct;55(10):959-62. Epub 2013 Aug 5 doi: 10.1111/dmcn.12236. [Epub ahead of print] PMID: 23909822
Fernández-Alvarez E, Perez-Dueñas B
Handb Clin Neurol 2013;112:847-52. doi: 10.1016/B978-0-444-52910-7.00004-0. PMID: 23622292
Tomlinson SE, Tan SV, Kullmann DM, Griggs RC, Burke D, Hanna MG, Bostock H
Brain 2010 Dec;133(Pt 12):3530-40. Epub 2010 Nov 23 doi: 10.1093/brain/awq318. [Epub ahead of print] PMID: 21106501Free PMC Article
Almgren M, Schalling M, Lavebratt C
Eur J Paediatr Neurol 2008 Nov;12(6):438-45. Epub 2008 Jan 31 doi: 10.1016/j.ejpn.2007.11.008. [Epub ahead of print] PMID: 18242108
Brandt T, Strupp M
Audiol Neurootol 1997 Nov-Dec;2(6):373-83. PMID: 9390841

Diagnosis

Tan SV, Wraige E, Lascelles K, Bostock H
Dev Med Child Neurol 2013 Oct;55(10):959-62. Epub 2013 Aug 5 doi: 10.1111/dmcn.12236. [Epub ahead of print] PMID: 23909822
Tomlinson SE, Rajakulendran S, Tan SV, Graves TD, Bamiou DE, Labrum RW, Burke D, Sue CM, Giunti P, Schorge S, Kullmann DM, Hanna MG
J Neurol Neurosurg Psychiatry 2013 Oct;84(10):1107-12. Epub 2013 Jan 24 doi: 10.1136/jnnp-2012-304131. [Epub ahead of print] PMID: 23349320
Tomlinson SE, Tan SV, Kullmann DM, Griggs RC, Burke D, Hanna MG, Bostock H
Brain 2010 Dec;133(Pt 12):3530-40. Epub 2010 Nov 23 doi: 10.1093/brain/awq318. [Epub ahead of print] PMID: 21106501Free PMC Article
Imbrici P, D'Adamo MC, Cusimano A, Pessia M
Am J Physiol Cell Physiol 2007 Feb;292(2):C778-87. Epub 2006 Sep 6 doi: 10.1152/ajpcell.00259.2006. [Epub ahead of print] PMID: 16956965
Brandt T, Strupp M
Audiol Neurootol 1997 Nov-Dec;2(6):373-83. PMID: 9390841

Therapy

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. [Epub ahead of print] PMID: 24578548Free PMC Article
Kotagal V
Semin Neurol 2012 Nov;32(5):533-7. Epub 2013 May 15 doi: 10.1055/s-0033-1334475. PMID: 23677664
Ishida S, Sakamoto Y, Nishio T, Baulac S, Kuwamura M, Ohno Y, Takizawa A, Kaneko S, Serikawa T, Mashimo T
Brain Res 2012 Jan 30;1435:154-66. Epub 2011 Nov 13 doi: 10.1016/j.brainres.2011.11.023. [Epub ahead of print] PMID: 22206926
Almgren M, Schalling M, Lavebratt C
Eur J Paediatr Neurol 2008 Nov;12(6):438-45. Epub 2008 Jan 31 doi: 10.1016/j.ejpn.2007.11.008. [Epub ahead of print] PMID: 18242108
Brandt T, Strupp M
Audiol Neurootol 1997 Nov-Dec;2(6):373-83. PMID: 9390841

Prognosis

Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW, McWilliam RC, Stephenson JB, Kullmann DM, Hanna MG
Brain 1999 May;122 ( Pt 5):817-25. PMID: 10355668

Clinical prediction guides

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. [Epub ahead of print] PMID: 24578548Free PMC Article
Ebner TJ, Chen G
Neuroscientist 2003 Feb;9(1):37-45. PMID: 12580338
Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R, Avoni P, McWilliam RC, Stephenson JB, Hanna MG, Kullmann DM, Spauschus A
Ann Neurol 2000 Oct;48(4):647-56. PMID: 11026449
Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW, McWilliam RC, Stephenson JB, Kullmann DM, Hanna MG
Brain 1999 May;122 ( Pt 5):817-25. PMID: 10355668

Recent systematic reviews

Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW, McWilliam RC, Stephenson JB, Kullmann DM, Hanna MG
Brain 1999 May;122 ( Pt 5):817-25. PMID: 10355668

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