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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
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

Recent clinical studies

Etiology

Yu X, Ge P, Zhai Y, Liu W, Zhang Q, Ye X, Liu X, Wang R, Zhang Y, Zhao J, Zhang D
Front Cell Infect Microbiol 2023;13:1252681. Epub 2023 Oct 17 doi: 10.3389/fcimb.2023.1252681. PMID: 37915847Free PMC Article
Gonzalez NR, Amin-Hanjani S, Bang OY, Coffey C, Du R, Fierstra J, Fraser JF, Kuroda S, Tietjen GE, Yaghi S; American Heart Association Stroke Council; Council on Cardiovascular and Stroke Nursing; and Council on Clinical Cardiology
Stroke 2023 Oct;54(10):e465-e479. Epub 2023 Aug 23 doi: 10.1161/STR.0000000000000443. PMID: 37609846
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
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
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

Diagnosis

Gonzalez NR, Amin-Hanjani S, Bang OY, Coffey C, Du R, Fierstra J, Fraser JF, Kuroda S, Tietjen GE, Yaghi S; American Heart Association Stroke Council; Council on Cardiovascular and Stroke Nursing; and Council on Clinical Cardiology
Stroke 2023 Oct;54(10):e465-e479. Epub 2023 Aug 23 doi: 10.1161/STR.0000000000000443. PMID: 37609846
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
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

Yin Z, Ge P, Zeng C, Liu C, Zhao Y, Zhang Q, Xie H, Wang A, Liu X, Kang S, Zhang Q, Zhang Y, Zhang D, Zhao J
Clin Nutr 2024 Mar;43(3):787-795. Epub 2023 Dec 30 doi: 10.1016/j.clnu.2023.12.021. PMID: 38340411
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
Li J, He Q, Liu C, Zeng C, Tao C, Zhai Y, Liu W, Zhang Q, Wang R, Zhang Y, Ge P, Zhang D, Zhao J
CNS Neurosci Ther 2023 Nov;29(11):3212-3227. Epub 2023 May 14 doi: 10.1111/cns.14254. PMID: 37183324Free PMC Article
Yang J, Kim SK, Chu MK, Rho YI, Phi JH, Lee SY
Cerebrovasc Dis 2023;52(3):266-274. Epub 2023 Mar 21 doi: 10.1159/000526551. PMID: 36944315
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

Yu X, Ge P, Zhai Y, Liu W, Zhang Q, Ye X, Liu X, Wang R, Zhang Y, Zhao J, Zhang D
Front Cell Infect Microbiol 2023;13:1252681. Epub 2023 Oct 17 doi: 10.3389/fcimb.2023.1252681. PMID: 37915847Free 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
Zou X, Liao Y, Jiang C, Yuan Y, Zhao F, Ding D, Chen L, Xu B, Mao Y
Alzheimers Dement 2023 Aug;19(8):3316-3326. Epub 2023 Feb 10 doi: 10.1002/alz.12958. PMID: 36762755
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

Clinical prediction guides

Ge P, Tao C, Wang W, He Q, Liu C, Zheng Z, Mou S, Zhang B, Liu X, Zhang Q, Wang R, Li H, Zhang D, Zhao J
Clin Transl Med 2024 Apr;14(4):e1647. doi: 10.1002/ctm2.1647. PMID: 38566524Free PMC Article
Yu X, Ge P, Zhai Y, Liu W, Zhang Q, Ye X, Liu X, Wang R, Zhang Y, Zhao J, Zhang D
Front Cell Infect Microbiol 2023;13:1252681. Epub 2023 Oct 17 doi: 10.3389/fcimb.2023.1252681. PMID: 37915847Free 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
Zou X, Liao Y, Jiang C, Yuan Y, Zhao F, Ding D, Chen L, Xu B, Mao Y
Alzheimers Dement 2023 Aug;19(8):3316-3326. Epub 2023 Feb 10 doi: 10.1002/alz.12958. PMID: 36762755
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

Recent systematic reviews

Batista S, Koester S, Bishay AE, Bertani R, Oberman DZ, de Abreu LV, Bocanegra-Becerra JE, Amaral D, Isaacs AM, Dewan M, Figueiredo EG
Neurosurg Rev 2024 Jan 20;47(1):58. doi: 10.1007/s10143-024-02285-4. PMID: 38244093
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
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

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