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Moyamoya disease 1(MYMY1; MYMY)

MedGen UID:
419790
Concept ID:
C2931384
Disease or Syndrome
Synonyms: MYMY1; Spontaneous occlusion of the circle of Willis
 
Monarch Initiative: MONDO:0009649
OMIM®: 252350

Clinical features

From HPO
Carotid artery occlusion
MedGen UID:
539079
Concept ID:
C0265101
Anatomical Abnormality
Complete obstruction of a carotid artery.
Inflammatory arteriopathy
MedGen UID:
870765
Concept ID:
C4025222
Disease or Syndrome
Telangiectasia
MedGen UID:
21088
Concept ID:
C0039446
Finding
Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.

Professional guidelines

PubMed

Velo M, Grasso G, Fujimura M, Torregrossa F, Longo M, Granata F, Pitrone A, Vinci SL, Ferraù L, La Spina P
World Neurosurg 2022 Mar;159:409-425. doi: 10.1016/j.wneu.2021.11.026. PMID: 35255640
Fujimura M, Tominaga T, Kuroda S, Takahashi JC, Endo H, Ogasawara K, Miyamoto S; Research Committee on Moyamoya Disease (Spontaneous Occlusion of Circle of Willis) of the Ministry of Health, Labor Welfare, Japan; Guideline Committee 2021 of the Japan Stroke Society
Neurol Med Chir (Tokyo) 2022 Apr 15;62(4):165-170. Epub 2022 Feb 22 doi: 10.2176/jns-nmc.2021-0382. PMID: 35197402Free PMC Article
Chiang CC, Shahid AH, Harriott AM, Tietjen GE, Savastano LE, Klaas JP, Lanzino G
Cephalalgia 2022 May;42(6):542-552. Epub 2021 Nov 17 doi: 10.1177/03331024211056250. PMID: 34786968

Recent clinical studies

Etiology

Ihara M, Yamamoto Y, Hattori Y, Liu W, Kobayashi H, Ishiyama H, Yoshimoto T, Miyawaki S, Clausen T, Bang OY, Steinberg GK, Tournier-Lasserve E, Koizumi A
Lancet Neurol 2022 Aug;21(8):747-758. Epub 2022 May 20 doi: 10.1016/S1474-4422(22)00165-X. PMID: 35605621
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
Roy V, Ross JP, Pépin R, Cortez Ghio S, Brodeur A, Touzel Deschênes L, Le-Bel G, Phillips DE, Milot G, Dion PA, Guérin S, Germain L, Berthod F, Auger FA, Rouleau GA, Dupré N, Gros-Louis F
Stroke 2022 Apr;53(4):1263-1275. Epub 2022 Jan 7 doi: 10.1161/STROKEAHA.120.032691. PMID: 34991336
Chiang CC, Shahid AH, Harriott AM, Tietjen GE, Savastano LE, Klaas JP, Lanzino G
Cephalalgia 2022 May;42(6):542-552. Epub 2021 Nov 17 doi: 10.1177/03331024211056250. PMID: 34786968
Mertens R, Graupera M, Gerhardt H, Bersano A, Tournier-Lasserve E, Mensah MA, Mundlos S, Vajkoczy P
Transl Stroke Res 2022 Feb;13(1):25-45. Epub 2021 Sep 16 doi: 10.1007/s12975-021-00940-2. PMID: 34529262Free PMC Article

Diagnosis

Asselman C, Hemelsoet D, Eggermont D, Dermaut B, Impens F
Trends Mol Med 2022 Nov;28(11):939-950. Epub 2022 Sep 14 doi: 10.1016/j.molmed.2022.08.009. PMID: 36115805
Ihara M, Yamamoto Y, Hattori Y, Liu W, Kobayashi H, Ishiyama H, Yoshimoto T, Miyawaki S, Clausen T, Bang OY, Steinberg GK, Tournier-Lasserve E, Koizumi A
Lancet Neurol 2022 Aug;21(8):747-758. Epub 2022 May 20 doi: 10.1016/S1474-4422(22)00165-X. PMID: 35605621
Velo M, Grasso G, Fujimura M, Torregrossa F, Longo M, Granata F, Pitrone A, Vinci SL, Ferraù L, La Spina P
World Neurosurg 2022 Mar;159:409-425. doi: 10.1016/j.wneu.2021.11.026. PMID: 35255640
Fujimura M, Tominaga T, Kuroda S, Takahashi JC, Endo H, Ogasawara K, Miyamoto S; Research Committee on Moyamoya Disease (Spontaneous Occlusion of Circle of Willis) of the Ministry of Health, Labor Welfare, Japan; Guideline Committee 2021 of the Japan Stroke Society
Neurol Med Chir (Tokyo) 2022 Apr 15;62(4):165-170. Epub 2022 Feb 22 doi: 10.2176/jns-nmc.2021-0382. PMID: 35197402Free PMC Article
Mertens R, Graupera M, Gerhardt H, Bersano A, Tournier-Lasserve E, Mensah MA, Mundlos S, Vajkoczy P
Transl Stroke Res 2022 Feb;13(1):25-45. Epub 2021 Sep 16 doi: 10.1007/s12975-021-00940-2. PMID: 34529262Free PMC Article

Therapy

Hirano Y, Miyawaki S, Imai H, Hongo H, Teranishi Y, Ishigami D, Sakai Y, Shimada D, Umekawa M, Segawa M, Koizumi S, Ono H, Nakatomi H, Saito N
World Neurosurg 2023 Apr;172:e438-e446. Epub 2023 Jan 16 doi: 10.1016/j.wneu.2023.01.047. PMID: 36657715
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
Chen JY, Tu XK
Clin Neurol Neurosurg 2022 Jun;217:107254. Epub 2022 Apr 22 doi: 10.1016/j.clineuro.2022.107254. PMID: 35512575
Ma Y, Zhao M, Deng X, Zhang D, Wang S, Zeng Z, Zhang Q, Zhao J
J Clin Neurosci 2020 May;75:163-167. Epub 2020 Apr 2 doi: 10.1016/j.jocn.2019.12.016. PMID: 32249174
Wan M, Duan L
Br J Neurosurg 2015 Apr;29(2):189-91. Epub 2014 Nov 3 doi: 10.3109/02688697.2014.976177. PMID: 25365664

Prognosis

Gao G, Hao FB, Wang QN, Wang XP, Liu SM, Wang MJ, Guo QB, Li JJ, Bao XY, Han C, Duan L
Brain Behav 2023 Aug;13(8):e3093. Epub 2023 Jun 29 doi: 10.1002/brb3.3093. PMID: 37386744Free 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
Nakamizo A, Amano T, Matsuo S, Miyamatsu Y, Kuwashiro T, Yasaka M, Okada Y, Mizoguchi M, Yoshimoto K
World Neurosurg 2022 Sep;165:e346-e351. Epub 2022 Jun 17 doi: 10.1016/j.wneu.2022.06.055. PMID: 35724887
Acker G, Fekonja L, Vajkoczy P
Stroke 2018 Feb;49(2):476-482. Epub 2018 Jan 17 doi: 10.1161/STROKEAHA.117.018563. PMID: 29343587
Wan M, Duan L
Br J Neurosurg 2015 Apr;29(2):189-91. Epub 2014 Nov 3 doi: 10.3109/02688697.2014.976177. PMID: 25365664

Clinical prediction guides

Gao G, Hao FB, Wang QN, Wang XP, Liu SM, Wang MJ, Guo QB, Li JJ, Bao XY, Han C, Duan L
Brain Behav 2023 Aug;13(8):e3093. Epub 2023 Jun 29 doi: 10.1002/brb3.3093. PMID: 37386744Free 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
Yeh SJ, Tang SC, Tsai LK, Chen TC, Li PL, Chen YF, Kuo MF, Jeng JS
J Neurol Sci 2022 Nov 15;442:120408. Epub 2022 Sep 6 doi: 10.1016/j.jns.2022.120408. PMID: 36108529
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
Roy V, Ross JP, Pépin R, Cortez Ghio S, Brodeur A, Touzel Deschênes L, Le-Bel G, Phillips DE, Milot G, Dion PA, Guérin S, Germain L, Berthod F, Auger FA, Rouleau GA, Dupré N, Gros-Louis F
Stroke 2022 Apr;53(4):1263-1275. Epub 2022 Jan 7 doi: 10.1161/STROKEAHA.120.032691. PMID: 34991336

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
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
Wiedmann MKH, Davidoff C, Lo Presti A, Ni W, Rhim JK, Simons M, Stoodley MA
J Neurosurg 2022 Mar 1;136(3):637-646. Epub 2021 Aug 27 doi: 10.3171/2021.1.JNS203936. PMID: 34450582
Yu J, Guo Y, Xu B, Xu K
Int J Med Sci 2016;13(10):790-799. Epub 2016 Oct 17 doi: 10.7150/ijms.16489. PMID: 27766029Free PMC Article

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