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Moyamoya disease 5(MYMY5)

MedGen UID:
481320
Concept ID:
C3279690
Disease or Syndrome
Synonym: MYMY5
 
Gene (location): ACTA2 (10q23.31)
 
Monarch Initiative: MONDO:0013542
OMIM®: 614042

Definition

Moyamoya disease is a cerebrovascular disorder caused by stenotic changes of terminal portions of the internal carotid arteries accompanied by surrounding fine arterial collateral vessels. These vascular networks resemble a 'puff of smoke' (Japanese: moyamoya) in angiographic imaging (summary by Roder et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350). [from OMIM]

Additional description

From MedlinePlus Genetics
Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. These vessels, which provide oxygen-rich blood to the brain, narrow over time. Narrowing of these vessels reduces blood flow in the brain. In an attempt to compensate, new networks of small, fragile blood vessels form. These networks, visualized by a particular test called an angiogram, resemble puffs of smoke, which is how the condition got its name: "moyamoya" is an expression meaning "something hazy like a puff of smoke" in Japanese.

Some people have the blood vessel changes characteristic of moyamoya disease in addition to features of another disorder, such as neurofibromatosis type 1, sickle cell disease, or Graves' disease. These individuals are said to have moyamoya syndrome.

Moyamoya disease commonly begins either around age 5 or in a person's thirties or forties. A lack of blood supply to the brain leads to several symptoms of the disorder, including temporary stroke-like episodes (transient ischemic attacks), strokes, and seizures. In addition, the fragile blood vessels that grow can develop bulges (aneurysms), or they can break open, leading to bleeding (hemorrhage) in the brain. Affected individuals may develop recurrent headaches, involuntary jerking movements (chorea), or a decline in thinking ability. The symptoms of moyamoya disease often worsen over time if the condition is not treated.  https://medlineplus.gov/genetics/condition/moyamoya-disease

Clinical features

From HPO
Ascending tubular aorta aneurysm
MedGen UID:
163631
Concept ID:
C0856747
Anatomical Abnormality
An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.
Moyamoya phenomenon
MedGen UID:
868764
Concept ID:
C4023169
Disease or Syndrome
A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.

Professional guidelines

PubMed

Slingerland AL, Keusch DS, Lehman LL, Smith ER, Srivastava S, See AP
Childs Nerv Syst 2024 Mar;40(3):801-808. Epub 2023 Oct 1 doi: 10.1007/s00381-023-06167-w. PMID: 37778001
Abedi A, Sizdahkhani S, Choi W, Nguyen VN, Rennert RC, Russin JJ
Neurosurg Focus 2023 Oct;55(4):E9. doi: 10.3171/2023.7.FOCUS23327. PMID: 37778042
See AP, Ropper AE, Underberg DL, Robertson RL, Scott RM, Smith ER
J Neurosurg Pediatr 2015 Jul;16(1):58-63. Epub 2015 Apr 3 doi: 10.3171/2014.12.PEDS14563. PMID: 25837890

Recent clinical studies

Etiology

Birkeland P, Hansen V, Tharmabalan V, Lauritsen J, Nielsen T, Truelsen T, Rosenbaum S, von Weitzel-Mudersbach P
Int J Stroke 2024 Apr;19(4):452-459. Epub 2023 Dec 4 doi: 10.1177/17474930231216037. PMID: 37950387
Kuroda S, Yamamoto S, Funaki T, Fujimura M, Kataoka H, Hishikawa T, Takahashi J, Endo H, Nariai T, Osato T, Saito N, Sato N, Hori E, Ito YM, Miyamoto S; AMORE Study Group
Stroke 2023 Jun;54(6):1494-1504. Epub 2023 May 22 doi: 10.1161/STROKEAHA.122.041932. PMID: 37216455
Das S, Ray BK, Pandit A, Ghosh R, Chakraborty AP, Dubey S
Eur J Paediatr Neurol 2022 Nov;41:63-70. Epub 2022 Oct 17 doi: 10.1016/j.ejpn.2022.10.002. PMID: 36368232
Xue Y, Zeng C, Ge P, Liu C, Li J, Zhang Y, Zhang D, Zhang Q, Zhao J
Stroke 2022 Sep;53(9):2906-2916. Epub 2022 May 11 doi: 10.1161/STROKEAHA.121.038066. PMID: 35543128
Nathal E, Serrano-Rubio A, Maciel E, Arauz A
Neurologia (Engl Ed) 2021 Oct;36(8):603-610. Epub 2020 Aug 14 doi: 10.1016/j.nrleng.2020.08.002. PMID: 34654535

Diagnosis

Tan KS, Pandian JD, Liu L, Toyoda K, Leung TWH, Uchiyama S, Kuroda S, Suwanwela NC, Aaron S, Chang HM, Venketasubramanian N
Cerebrovasc Dis Extra 2024;14(1):58-75. Epub 2024 Apr 26 doi: 10.1159/000538928. PMID: 38657577Free PMC Article
Das S, Ray BK, Pandit A, Ghosh R, Chakraborty AP, Dubey S
Eur J Paediatr Neurol 2022 Nov;41:63-70. Epub 2022 Oct 17 doi: 10.1016/j.ejpn.2022.10.002. PMID: 36368232
Das S, Ghosh R, Dubey S, Pandit A, Ray BK, Kraemer M
Clin Neurol Neurosurg 2021 Aug;207:106783. Epub 2021 Jun 27 doi: 10.1016/j.clineuro.2021.106783. PMID: 34225004
Rocha EA, Topcuoglu MA, Silva GS, Singhal AB
Neurology 2019 Feb 12;92(7):e639-e647. Epub 2019 Jan 11 doi: 10.1212/WNL.0000000000006917. PMID: 30635475
Desai SS, Paulino AC, Mai WY, Teh BS
Int J Radiat Oncol Biol Phys 2006 Jul 15;65(4):1222-7. Epub 2006 Apr 19 doi: 10.1016/j.ijrobp.2006.01.038. PMID: 16626890

Therapy

Nguyen VN, Motiwala M, Elarjani T, Moore KA, Miller LE, Barats M, Goyal N, Elijovich L, Klimo P, Hoit DA, Arthur AS, Morcos JJ, Khan NR
Stroke 2022 Dec;53(12):3572-3582. Epub 2022 Sep 22 doi: 10.1161/STROKEAHA.122.039584. PMID: 36134563
Unda SR, Antoniazzi AM, Miller R, Klyde D, Javed K, Fluss R, Holland R, De la Garza Ramos R, Haranhalli N, Altschul DJ
J Stroke Cerebrovasc Dis 2021 Sep;30(9):105965. Epub 2021 Jul 8 doi: 10.1016/j.jstrokecerebrovasdis.2021.105965. PMID: 34247053
Moore JM, Griessenauer CJ, Gupta R, Adeeb N, Patel AS, Ogilvy CS, Thomas AJ
Clin Neurol Neurosurg 2016 Sep;148:22-8. Epub 2016 Jun 18 doi: 10.1016/j.clineuro.2016.06.007. PMID: 27366977
Salem M, Gross BA, Du R, Thomas AJ
J Clin Neurosci 2015 May;22(5):775-8. Epub 2015 Feb 15 doi: 10.1016/j.jocn.2015.01.002. PMID: 25691077
Desai SS, Paulino AC, Mai WY, Teh BS
Int J Radiat Oncol Biol Phys 2006 Jul 15;65(4):1222-7. Epub 2006 Apr 19 doi: 10.1016/j.ijrobp.2006.01.038. PMID: 16626890

Prognosis

Tan KS, Pandian JD, Liu L, Toyoda K, Leung TWH, Uchiyama S, Kuroda S, Suwanwela NC, Aaron S, Chang HM, Venketasubramanian N
Cerebrovasc Dis Extra 2024;14(1):58-75. Epub 2024 Apr 26 doi: 10.1159/000538928. PMID: 38657577Free PMC Article
Liu W, Liu C, Yu X, Zhai Y, He Q, Li J, Liu X, Ye X, Zhang Q, Wang R, Zhang Y, Ge P, Zhang D
Ann Med 2023;55(2):2269368. Epub 2023 Oct 21 doi: 10.1080/07853890.2023.2269368. PMID: 37865806Free PMC Article
Kuroda S, Yamamoto S, Funaki T, Fujimura M, Kataoka H, Hishikawa T, Takahashi J, Endo H, Nariai T, Osato T, Saito N, Sato N, Hori E, Ito YM, Miyamoto S; AMORE Study Group
Stroke 2023 Jun;54(6):1494-1504. Epub 2023 May 22 doi: 10.1161/STROKEAHA.122.041932. PMID: 37216455
Das S, Ray BK, Pandit A, Ghosh R, Chakraborty AP, Dubey S
Eur J Paediatr Neurol 2022 Nov;41:63-70. Epub 2022 Oct 17 doi: 10.1016/j.ejpn.2022.10.002. PMID: 36368232
Das S, Ghosh R, Dubey S, Pandit A, Ray BK, Kraemer M
Clin Neurol Neurosurg 2021 Aug;207:106783. Epub 2021 Jun 27 doi: 10.1016/j.clineuro.2021.106783. PMID: 34225004

Clinical prediction guides

Kuroda S, Yamamoto S, Funaki T, Fujimura M, Kataoka H, Hishikawa T, Takahashi J, Endo H, Nariai T, Osato T, Saito N, Sato N, Hori E, Ito YM, Miyamoto S; AMORE Study Group
Stroke 2023 Jun;54(6):1494-1504. Epub 2023 May 22 doi: 10.1161/STROKEAHA.122.041932. PMID: 37216455
Das S, Ray BK, Pandit A, Ghosh R, Chakraborty AP, Dubey S
Eur J Paediatr Neurol 2022 Nov;41:63-70. Epub 2022 Oct 17 doi: 10.1016/j.ejpn.2022.10.002. PMID: 36368232
Das S, Ghosh R, Dubey S, Pandit A, Ray BK, Kraemer M
Clin Neurol Neurosurg 2021 Aug;207:106783. Epub 2021 Jun 27 doi: 10.1016/j.clineuro.2021.106783. PMID: 34225004
Church EW, Bell-Stephens TE, Bigder MG, Gummidipundi S, Han SS, Steinberg GK
Neurosurgery 2020 Nov 16;87(6):1262-1268. doi: 10.1093/neuros/nyaa284. PMID: 32710766
Rocha EA, Topcuoglu MA, Silva GS, Singhal AB
Neurology 2019 Feb 12;92(7):e639-e647. Epub 2019 Jan 11 doi: 10.1212/WNL.0000000000006917. PMID: 30635475

Recent systematic reviews

Abedi A, Sizdahkhani S, Choi W, Nguyen VN, Rennert RC, Russin JJ
Neurosurg Focus 2023 Oct;55(4):E9. doi: 10.3171/2023.7.FOCUS23327. PMID: 37778042
Singh R, Bauman MMJ, Seas A, Harrison DJ, Pennington Z, Brown NJ, Gendreau J, Rahmani R, Ellens N, Catapano J, Lawton MT
Neurosurg Rev 2023 Sep 2;46(1):220. doi: 10.1007/s10143-023-02123-z. PMID: 37658996
Nguyen VN, Motiwala M, Elarjani T, Moore KA, Miller LE, Barats M, Goyal N, Elijovich L, Klimo P, Hoit DA, Arthur AS, Morcos JJ, Khan NR
Stroke 2022 Dec;53(12):3572-3582. Epub 2022 Sep 22 doi: 10.1161/STROKEAHA.122.039584. PMID: 36134563
Kuribara T, Akiyama Y, Mikami T, Komatsu K, Kimura Y, Takahashi Y, Sakashita K, Chiba R, Mikuni N
Cerebrovasc Dis 2022;51(4):413-426. Epub 2022 Feb 1 doi: 10.1159/000520099. PMID: 35104814
Maragkos GA, Ascanio LC, Chida K, Boone MD, Ogilvy CS, Thomas AJ, Kasper EM
Acta Neurochir (Wien) 2018 Sep;160(9):1711-1719. Epub 2018 Jun 19 doi: 10.1007/s00701-018-3597-6. PMID: 29915888

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