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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

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
Kim JE, Jeon JS
Neurol Res 2014 May;36(5):407-16. Epub 2014 Mar 18 doi: 10.1179/1743132814Y.0000000351. PMID: 24641716
Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis; Health Labour Sciences Research Grant for Research on Measures for Infractable Diseases
Neurol Med Chir (Tokyo) 2012;52(5):245-66. doi: 10.2176/nmc.52.245. PMID: 22870528

Recent clinical studies

Etiology

Kaur S, Parikh P, Khatri J, Jaber W
J Nucl Cardiol 2023 Oct;30(5):2229-2232. Epub 2022 Nov 28 doi: 10.1007/s12350-022-03148-5. PMID: 36443588
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
Lu J, Zhao Y, Li M, Ma L, Chen Y, Wang R, Ye X, Wang H, Chen X, Zhao Y
Cerebrovasc Dis 2021;50(2):147-155. Epub 2021 Feb 8 doi: 10.1159/000511936. PMID: 33556948
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
Thines L, Petyt G, Aguettaz P, Bodenant M, Himpens FX, Lenci H, Henon H, Gauthier C, Hossein-Foucher C, Cordonnier C, Lejeune JP
Rev Neurol (Paris) 2015 Jan;171(1):31-44. Epub 2014 Dec 30 doi: 10.1016/j.neurol.2014.08.007. PMID: 25555850

Diagnosis

Li Y, Yan Z, Shi P, Feng W, Liu J, Wang L
Minerva Pediatr (Torino) 2023 Oct;75(5):764-766. Epub 2023 Jun 13 doi: 10.23736/S2724-5276.23.07304-4. PMID: 37310773
Kaur S, Parikh P, Khatri J, Jaber W
J Nucl Cardiol 2023 Oct;30(5):2229-2232. Epub 2022 Nov 28 doi: 10.1007/s12350-022-03148-5. PMID: 36443588
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
Hishikawa T, Sugiu K, Date I
Acta Med Okayama 2016 Aug;70(4):229-36. doi: 10.18926/AMO/54497. PMID: 27549666
Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis; Health Labour Sciences Research Grant for Research on Measures for Infractable Diseases
Neurol Med Chir (Tokyo) 2012;52(5):245-66. doi: 10.2176/nmc.52.245. PMID: 22870528

Therapy

Yang KJ, Mistry P, Ayrian E
Curr Opin Anaesthesiol 2024 Oct 1;37(5):439-445. Epub 2024 Jun 28 doi: 10.1097/ACO.0000000000001411. PMID: 39011661
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
Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis; Health Labour Sciences Research Grant for Research on Measures for Infractable Diseases
Neurol Med Chir (Tokyo) 2012;52(5):245-66. doi: 10.2176/nmc.52.245. PMID: 22870528
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
Gordon N
Dev Med Child Neurol 1995 May;37(5):464-8. doi: 10.1111/j.1469-8749.1995.tb12030.x. PMID: 7768346

Prognosis

Zhou Z, Wang Y, Zhang J, Liu Z, Hao X, Wang X, He S, Wang R
Sci Rep 2024 May 4;14(1):10278. doi: 10.1038/s41598-024-61241-w. PMID: 38704490Free PMC Article
Hiraide T, Kataoka M, Suzuki H, Aimi Y, Chiba T, Isobe S, Katsumata Y, Goto S, Kanekura K, Yamada Y, Moriyama H, Kitakata H, Endo J, Yuasa S, Arai Y, Hirose N, Satoh T, Hakamata Y, Sano M, Gamou S, Kosaki K, Fukuda K
J Heart Lung Transplant 2020 Feb;39(2):103-112. Epub 2019 Sep 2 doi: 10.1016/j.healun.2019.08.022. PMID: 31542298
Uchino K, Johnston SC, Becker KJ, Tirschwell DL
Neurology 2005 Sep 27;65(6):956-8. doi: 10.1212/01.wnl.0000176066.33797.82. PMID: 16186547
Rosser TL, Vezina G, Packer RJ
Neurology 2005 Feb 8;64(3):553-5. doi: 10.1212/01.WNL.0000150544.00016.69. PMID: 15699396
Gordon N
Dev Med Child Neurol 1995 May;37(5):464-8. doi: 10.1111/j.1469-8749.1995.tb12030.x. PMID: 7768346

Clinical prediction guides

Zhou Z, Wang Y, Zhang J, Liu Z, Hao X, Wang X, He S, Wang R
Sci Rep 2024 May 4;14(1):10278. doi: 10.1038/s41598-024-61241-w. PMID: 38704490Free PMC Article
Guo Q, Wang QN, Li J, Liu S, Wang X, Yu D, Zou ZX, Gao G, Zhang Q, Hao FB, Feng J, Yang RM, Wang M, Fu H, Bao X, Duan L
Brain Behav 2023 Dec;13(12):e3328. Epub 2023 Nov 14 doi: 10.1002/brb3.3328. PMID: 37962021Free 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
Tyagi G, Gohil D, Singh Birua GJ, Prabhuraj AR, Pruthi N
World Neurosurg 2021 Oct;154:73-77. Epub 2021 Jul 27 doi: 10.1016/j.wneu.2021.07.091. PMID: 34325029
Lu J, Zhao Y, Li M, Ma L, Chen Y, Wang R, Ye X, Wang H, Chen X, Zhao Y
Cerebrovasc Dis 2021;50(2):147-155. Epub 2021 Feb 8 doi: 10.1159/000511936. PMID: 33556948

Recent systematic reviews

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
Lee KS, Zhang JJY, Bhate S, Ganesan V, Thompson D, James G, Silva AHD
Childs Nerv Syst 2023 May;39(5):1225-1243. Epub 2023 Feb 8 doi: 10.1007/s00381-023-05868-6. PMID: 36752913Free PMC Article
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
Khojah O, Alamoudi S, Aldawsari N, Babgi M, Lary A
Childs Nerv Syst 2021 Dec;37(12):3847-3860. Epub 2021 Aug 3 doi: 10.1007/s00381-021-05284-8. PMID: 34345934Free PMC Article
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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