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Migraine with or without aura, susceptibility to, 1(MA)

MedGen UID:
854348
Concept ID:
C3887485
Finding
Synonyms: MA; MGAU; MGR1; MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
 
Genes (locations): EDNRA (4q31.22-31.23); ESR1 (6q25.1-25.2); TNF (6p21.33)
 
Monarch Initiative: MONDO:0008000
OMIM®: 157300

Definition

Migraine is the most common type of chronic, episodic headache, as summarized by Featherstone (1985). One locus for migraine with or without aura (MGR1) has been identified on chromosome 4q24. Other loci for migraine have been identified on 6p21.1-p12.2 (MGR3; 607498), 14q21.2-q22.3 (MGR4; 607501), 19p13 (MGR5; 607508), 1q31 (MGR6; 607516), 15q11-q13 (MGR7; 609179), 5q21 (with or without aura, MGR8, 609570; with aura, MGR9, 609670), 17p13 (MGR10; 610208), 18q12 (MGR11; 610209), 10q22-q23 (MGR12; 611706), and the X chromosome (MGR2; 300125). Mutation in the KCNK18 gene (613655) on chromosome 10q25 causes migraine with aura (MGR13; 613656). See also familial hemiplegic migraine-1 (FHM1; 141500), a subtype of autosomal dominant migraine with aura (MA). [from OMIM]

Additional description

From MedlinePlus Genetics
A migraine is a type of headache that typically causes intense, throbbing pain usually in one area of the head. People can experience migraines once a year to multiple times a week. A person is considered to have chronic migraines if they experience 15 or more headache days a month with eight of those days involving migraine headaches. Migraines typically first start during a person's teens to early twenties, but they can begin anytime from early childhood to late-adulthood.

A migraine usually has three stages: the period leading up to the headache (known as the premonitory or prodromal phase), the migraine itself (the headache phase), and the period following the headache (known as the postdromal phase).

The premonitory phase can start from several hours up to several days before the headache appears. In this phase, affected individuals can experience extreme tiredness (fatigue), concentration problems, and muscle stiffness in the neck. A wide variety of additional signs and symptoms can occur including excessive yawning, food cravings, irritability, depression, sensitivity to light, and nausea. About one-third of people with migraine experience a temporary pattern of neurological symptoms called an aura. An aura typically develops gradually over a few minutes and lasts between 5 and 60 minutes. Auras commonly include temporary visual changes such as blind spots (scotomas), flashing lights, and zig-zagging lines of color. Additional features of aura can include numbness, difficulty with speech and language, episodes of extreme dizziness (vertigo), and double vision. During an aura, affected individuals might experience abnormal sensations including tingling or numbness, usually of the hands or mouth. An aura usually starts within one hour of the start of a migraine. In some cases, an aura can occur without a subsequent migraine.

In the headache phase, the pain may last from a few hours to a few days. Affected individuals tend to experience nausea, vomiting, dizziness, and sensitivity to light and sound in addition to headache. Some have changes in their vision or sensitivity to odors and touch.

The postdromal phase usually lasts a few hours but can linger for more than a day. In this phase, the headache pain is gone but individuals can experience fatigue, drowsiness, decreased energy, concentration problems, irritability, nausea, or sensitivity to light. Affected individuals may also have brief episodes of head pain when moving their head.

People with migraine, particularly women who have migraine with aura, have an increased risk of a type of stroke that is caused by a lack of blood flow to the brain (ischemic stroke), but this is a rare occurrence.

There are many migraine disorders that usually include additional signs and symptoms. For example, familial hemiplegic migraine and sporadic hemiplegic migraine are characterized by migraine with associated temporary weakness that affects one side of the body (hemiparesis). Additionally, cyclic vomiting syndrome is a migraine disorder usually found in children that causes episodes of nausea and vomiting in addition to headaches.  https://medlineplus.gov/genetics/condition/migraine

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.
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Migraine with aura
MedGen UID:
57822
Concept ID:
C0154723
Disease or Syndrome
A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.
Migraine without aura
MedGen UID:
137899
Concept ID:
C0338480
Disease or Syndrome
Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria
Phonophobia
MedGen UID:
155864
Concept ID:
C0751466
Mental or Behavioral Dysfunction
An abnormally heightened sensitivity to loud sounds.

Professional guidelines

PubMed

Khan J, Asoom LIA, Sunni AA, Rafique N, Latif R, Saif SA, Almandil NB, Almohazey D, AbdulAzeez S, Borgio JF
Biomed Pharmacother 2021 Jul;139:111557. Epub 2021 May 17 doi: 10.1016/j.biopha.2021.111557. PMID: 34243621
Ailani J, Burch RC, Robbins MS; Board of Directors of the American Headache Society
Headache 2021 Jul;61(7):1021-1039. Epub 2021 Jun 23 doi: 10.1111/head.14153. PMID: 34160823
Basura GJ, Adams ME, Monfared A, Schwartz SR, Antonelli PJ, Burkard R, Bush ML, Bykowski J, Colandrea M, Derebery J, Kelly EA, Kerber KA, Koopman CF, Kuch AA, Marcolini E, McKinnon BJ, Ruckenstein MJ, Valenzuela CV, Vosooney A, Walsh SA, Nnacheta LC, Dhepyasuwan N, Buchanan EM
Otolaryngol Head Neck Surg 2020 Apr;162(2_suppl):S1-S55. doi: 10.1177/0194599820909438. PMID: 32267799

Recent clinical studies

Etiology

Grangeon L, Lange KS, Waliszewska-Prosół M, Onan D, Marschollek K, Wiels W, Mikulenka P, Farham F, Gollion C, Ducros A; European Headache Federation School of Advanced Studies (EHF-SAS)
J Headache Pain 2023 Feb 20;24(1):12. doi: 10.1186/s10194-023-01547-8. PMID: 36800925Free PMC Article
Hautakangas H, Winsvold BS, Ruotsalainen SE, Bjornsdottir G, Harder AVE, Kogelman LJA, Thomas LF, Noordam R, Benner C, Gormley P, Artto V, Banasik K, Bjornsdottir A, Boomsma DI, Brumpton BM, Burgdorf KS, Buring JE, Chalmer MA, de Boer I, Dichgans M, Erikstrup C, Färkkilä M, Garbrielsen ME, Ghanbari M, Hagen K, Häppölä P, Hottenga JJ, Hrafnsdottir MG, Hveem K, Johnsen MB, Kähönen M, Kristoffersen ES, Kurth T, Lehtimäki T, Lighart L, Magnusson SH, Malik R, Pedersen OB, Pelzer N, Penninx BWJH, Ran C, Ridker PM, Rosendaal FR, Sigurdardottir GR, Skogholt AH, Sveinsson OA, Thorgeirsson TE, Ullum H, Vijfhuizen LS, Widén E, van Dijk KW; International Headache Genetics Consortium; HUNT All-in Headache; Danish Blood Donor Study Genomic Cohort, Aromaa A, Belin AC, Freilinger T, Ikram MA, Järvelin MR, Raitakari OT, Terwindt GM, Kallela M, Wessman M, Olesen J, Chasman DI, Nyholt DR, Stefánsson H, Stefansson K, van den Maagdenberg AMJM, Hansen TF, Ripatti S, Zwart JA, Palotie A, Pirinen M
Nat Genet 2022 Feb;54(2):152-160. Epub 2022 Feb 3 doi: 10.1038/s41588-021-00990-0. PMID: 35115687Free PMC Article
Wells RE, Beuthin J, Granetzke L
Curr Pain Headache Rep 2019 Feb 21;23(2):10. doi: 10.1007/s11916-019-0750-8. PMID: 30790138Free PMC Article
Cameron C, Kelly S, Hsieh SC, Murphy M, Chen L, Kotb A, Peterson J, Coyle D, Skidmore B, Gomes T, Clifford T, Wells G
Headache 2015 Jul-Aug;55 Suppl 4:221-35. Epub 2015 Jul 14 doi: 10.1111/head.12601. PMID: 26178694
Schwedt TJ
BMJ 2014 Mar 24;348:g1416. doi: 10.1136/bmj.g1416. PMID: 24662044

Diagnosis

Villar-Martinez MD, Goadsby PJ
Cells 2022 Sep 5;11(17) doi: 10.3390/cells11172767. PMID: 36078174Free PMC Article
Aguilar-Shea AL, Membrilla Md JA, Diaz-de-Teran J
Aten Primaria 2022 Feb;54(2):102208. Epub 2021 Nov 16 doi: 10.1016/j.aprim.2021.102208. PMID: 34798397Free PMC Article
Goadsby PJ, Holland PR
Neurol Clin 2019 Nov;37(4):651-671. doi: 10.1016/j.ncl.2019.07.008. PMID: 31563225
Ha H, Gonzalez A
Am Fam Physician 2019 Jan 1;99(1):17-24. PMID: 30600979
Silberstein SD
Lancet 2004 Jan 31;363(9406):381-91. doi: 10.1016/S0140-6736(04)15440-8. PMID: 15070571

Therapy

Hugger SS, Do TP, Ashina H, Goicochea MT, Jenkins B, Sacco S, Lee MJ, Brennan KC, Amin FM, Steiner TJ, Ashina M
Lancet Neurol 2023 Oct;22(10):934-945. Epub 2023 Sep 14 doi: 10.1016/S1474-4422(23)00206-5. PMID: 37717587
Haghdoost F, Puledda F, Garcia-Azorin D, Huessler EM, Messina R, Pozo-Rosich P
Cephalalgia 2023 Apr;43(4):3331024231159366. doi: 10.1177/03331024231159366. PMID: 36855951
Vuralli D, Ayata C, Bolay H
J Headache Pain 2018 Nov 15;19(1):109. doi: 10.1186/s10194-018-0933-4. PMID: 30442090Free PMC Article
Puledda F, Shields K
Neurotherapeutics 2018 Apr;15(2):336-345. doi: 10.1007/s13311-018-0623-6. PMID: 29616493Free PMC Article
Maasumi K, Tepper SJ, Kriegler JS
Headache 2017 Feb;57(2):194-208. Epub 2016 Dec 2 doi: 10.1111/head.12978. PMID: 27910087

Prognosis

Sun X, Chen B, Qi Y, Wei M, Chen W, Wu X, Wang Q, Li J, Lei X, Luo G
J Headache Pain 2024 Jul 22;25(1):117. doi: 10.1186/s10194-024-01828-w. PMID: 39039470Free PMC Article
Cen J, Wang Q, Cheng L, Gao Q, Wang H, Sun F
J Headache Pain 2024 Jun 7;25(1):96. doi: 10.1186/s10194-024-01798-z. PMID: 38844846Free PMC Article
Safiri S, Pourfathi H, Eagan A, Mansournia MA, Khodayari MT, Sullman MJM, Kaufman J, Collins G, Dai H, Bragazzi NL, Kolahi AA
Pain 2022 Feb 1;163(2):e293-e309. doi: 10.1097/j.pain.0000000000002275. PMID: 34001771
Krause DN, Warfvinge K, Haanes KA, Edvinsson L
Nat Rev Neurol 2021 Oct;17(10):621-633. Epub 2021 Sep 20 doi: 10.1038/s41582-021-00544-2. PMID: 34545218
Kelman L
Cephalalgia 2007 May;27(5):394-402. Epub 2007 Mar 30 doi: 10.1111/j.1468-2982.2007.01303.x. PMID: 17403039

Clinical prediction guides

Sun X, Chen B, Qi Y, Wei M, Chen W, Wu X, Wang Q, Li J, Lei X, Luo G
J Headache Pain 2024 Jul 22;25(1):117. doi: 10.1186/s10194-024-01828-w. PMID: 39039470Free PMC Article
Bae JY, Sung HK, Kwon NY, Go HY, Kim TJ, Shin SM, Lee S
Medicina (Kaunas) 2021 Dec 28;58(1) doi: 10.3390/medicina58010044. PMID: 35056352Free PMC Article
Vilela P
Eur J Radiol 2017 Nov;96:133-144. Epub 2017 May 5 doi: 10.1016/j.ejrad.2017.05.008. PMID: 28551302
von Brevern M, Lempert T
Handb Clin Neurol 2016;137:301-16. doi: 10.1016/B978-0-444-63437-5.00022-4. PMID: 27638080
Honaker J, Samy RN
Curr Opin Otolaryngol Head Neck Surg 2008 Oct;16(5):412-5. doi: 10.1097/MOO.0b013e32830a4a02. PMID: 18797281

Recent systematic reviews

Haghdoost F, Puledda F, Garcia-Azorin D, Huessler EM, Messina R, Pozo-Rosich P
Cephalalgia 2023 Apr;43(4):3331024231159366. doi: 10.1177/03331024231159366. PMID: 36855951
Shaterian N, Shaterian N, Ghanaatpisheh A, Abbasi F, Daniali S, Jahromi MJ, Sanie MS, Abdoli A
Pain Res Manag 2022;2022:3284446. Epub 2022 Mar 31 doi: 10.1155/2022/3284446. PMID: 35401888Free PMC Article
Tiseo C, Vacca A, Felbush A, Filimonova T, Gai A, Glazyrina T, Hubalek IA, Marchenko Y, Overeem LH, Piroso S, Tkachev A, Martelletti P, Sacco S; European Headache Federation School of Advanced Studies (EHF-SAS)
J Headache Pain 2020 Oct 27;21(1):126. doi: 10.1186/s10194-020-01192-5. PMID: 33109076Free PMC Article
Hindiyeh NA, Zhang N, Farrar M, Banerjee P, Lombard L, Aurora SK
Headache 2020 Jul;60(7):1300-1316. Epub 2020 May 25 doi: 10.1111/head.13836. PMID: 32449944Free PMC Article
Chaibi A, Tuchin PJ, Russell MB
J Headache Pain 2011 Apr;12(2):127-33. Epub 2011 Feb 5 doi: 10.1007/s10194-011-0296-6. PMID: 21298314Free PMC Article

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