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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
Source: HPO
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 (location): KCNA1 (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 individuals may experience a number of variable symptoms including vertigo, blurred vision, diplopia, nausea, headache, diaphoresis, clumsiness, stiffening of the body, dysarthric speech, and difficulty in breathing, among others. EA1 may be associated with epilepsy. Other findings can include delayed motor development, cognitive disability, choreoathetosis, and carpal spasm. Usually, 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:
91020
Concept ID:
C0344232
Sign or Symptom
Lack of sharpness of vision resulting in the inability to see fine detail.
Abnormality of the hand
MedGen UID:
6715
Concept ID:
C0018564
Anatomical Abnormality
An abnormality affecting one or both hands.
Dizziness
MedGen UID:
4360
Concept ID:
C0012833
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.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Almost everyone has had a headache. Headache is the most common form of pain. It's a major reason people miss days at work or school or visit the doctor. The most common type of headache is a tension headache. Tension headaches are due to tight muscles in your shoulders, neck, scalp and jaw. They are often related to stress, depression or anxiety. You are more likely to get tension headaches if you work too much, don't get enough sleep, miss meals, or use alcohol. Other common types of headaches include migraines, cluster headaches, and sinus headaches. Most people can feel much better by making lifestyle changes, learning ways to relax and taking pain relievers. Not all headaches require a doctor's attention. But sometimes headaches warn of a more serious disorder. Let your health care provider know if you have sudden, severe headaches. Get medical help right away if you have a headache after a blow to your head, or if you have a headache along with a stiff neck, fever, confusion, loss of consciousness, or pain in the eye or ear. NIH: National Institute of Neurological Disorders and Stroke.
Movement disorder
MedGen UID:
10113
Concept ID:
C0026650
Disease or Syndrome
Imagine if parts of your body moved when you didn't want them to. If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia is abnormal uncontrolled movement and is a common symptom of many movement disorders. Tremors are a type of dyskinesia. . Nerve diseases cause many movement disorders, such as Parkinson's disease. Other causes include injuries, autoimmune diseases, infections and certain medicines. Many movement disorders are inherited, which means they run in families. Treatment varies by disorder. Medicine can cure some disorders. Others get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms and relieve pain.
Muscle Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
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.
Neurological speech impairment
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
Tremors are unintentional trembling or shaking movements in one or more parts of your body. Most tremors occur in the hands. You can also have arm, head, face, vocal cord, trunk, and leg tremors. Tremors are most common in middle-aged and older people, but anyone can have them. The cause of tremors is a problem in the parts of the brain that control muscles in the body or in specific parts of the body, such as the hands. They commonly occur in otherwise healthy people. They may also be caused by problems such as. -Parkinson's disease. -Dystonia. -Multiple sclerosis. -Stroke. -Traumatic brain injury. -Alcohol abuse and withdrawal. -Certain medicines. Some forms are inherited and run in families. Others have no known cause. . There is no cure for most tremors. Treatment to relieve them depends on their cause. In many cases, medicines and sometimes surgical procedures can reduce or stop tremors and improve muscle control. Tremors are not life threatening. However, they can be embarrassing and make it hard to perform daily tasks. NIH: National Institute of Neurological Disorders and Stroke.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Spastic gait
MedGen UID:
115907
Concept ID:
C0231687
Finding
Slurred speech
MedGen UID:
65885
Concept ID:
C0234518
Finding
Abnormal coordination of muscles involved in speech.
Abnormal coordination
MedGen UID:
141714
Concept ID:
C0520966
Sign or Symptom
Myokymia
MedGen UID:
146882
Concept ID:
C0684219
Sign or Symptom
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. (Adams et al., Principles of Neurology, 6th ed, p1491)
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.\n
Congenital diaphragmatic hernia
MedGen UID:
68625
Concept ID:
C0235833
Congenital Abnormality
Diaphragmatic hernia that is present at birth.
Congenital diaphragmatic hernia
MedGen UID:
68625
Concept ID:
C0235833
Congenital Abnormality
Diaphragmatic hernia that is present at birth.
Muscle Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Spastic gait
MedGen UID:
115907
Concept ID:
C0231687
Finding
EMG abnormality
MedGen UID:
99199
Concept ID:
C0476403
Finding
Abnormal results of investigations using electromyography (EMG).
CK increased
MedGen UID:
57470
Concept ID:
C0151576
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:
68625
Concept ID:
C0235833
Congenital Abnormality
Diaphragmatic hernia that is present at birth.

Term Hierarchy

Follow this link to review classifications for Episodic ataxia type 1 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. [Epub ahead of print] PMID: 20050888

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

Tacik P, Guthrie KJ, Strongosky AJ, Broderick DF, Riegert-Johnson DL, Tang S, El-Khechen D, Parker AS, Ross OA, Wszolek ZK
Mayo Clin Proc 2015 Mar;90(3):366-71. Epub 2015 Feb 3 doi: 10.1016/j.mayocp.2015.01.001. [Epub ahead of print] PMID: 25659636Free PMC Article
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: 23349320Free PMC Article
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

Therapy

Tacik P, Guthrie KJ, Strongosky AJ, Broderick DF, Riegert-Johnson DL, Tang S, El-Khechen D, Parker AS, Ross OA, Wszolek ZK
Mayo Clin Proc 2015 Mar;90(3):366-71. Epub 2015 Feb 3 doi: 10.1016/j.mayocp.2015.01.001. [Epub ahead of print] PMID: 25659636Free 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
Gordon N
Brain Dev 1998 Jan;20(1):9-13. PMID: 9533553
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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