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Inclusion Body Myopathy, Dominant

MedGen UID:
893567
Concept ID:
CN239244
Disease or Syndrome

Professional guidelines

PubMed

Pavlova AV, Shim JSC, Moss R, Maclean C, Brandie D, Mitchell L, Greig L, Parkinson E, Alexander L, Tzortziou Brown V, Morrissey D, Cooper K, Swinton PA
Br J Sports Med 2023 Oct;57(20):1327-1334. Epub 2023 May 11 doi: 10.1136/bjsports-2022-105754. PMID: 37169370Free PMC Article
Surampalli A, Khare M, Kubrussi G, Wencel M, Tanaja J, Donkervoort S, Osann K, Simon M, Wallace D, Smith C, M McInerney-Leo A, Kimonis V
J Genet Couns 2015 Oct;24(5):842-50. Epub 2015 Feb 26 doi: 10.1007/s10897-015-9819-7. PMID: 25716352Free PMC Article
Mehta SG, Khare M, Ramani R, Watts GD, Simon M, Osann KE, Donkervoort S, Dec E, Nalbandian A, Platt J, Pasquali M, Wang A, Mozaffar T, Smith CD, Kimonis VE
Clin Genet 2013 May;83(5):422-31. Epub 2012 Oct 4 doi: 10.1111/cge.12000. PMID: 22909335Free PMC Article

Recent clinical studies

Etiology

Tian Y, Zhou L, Gao J, Jiao B, Zhang S, Xiao Q, Xue J, Wang Y, Liang H, Liu Y, Ji G, Mao C, Liu C, Dong L, Zhang L, Zhang S, Yi J, Zhao G, Luo Y, Sun Q, Zhou Y, Yi F, Chen X, Zhou C, Xie N, Luo M, Yao L, Hu Y, Zhang M, Zeng Q, Fang L, Long HY, Xie Y, Weng L, Chen S, Du J, Xu Q, Feng L, Huang Q, Hou X, Wang J, Xie B, Zhou L, Long L, Guo JF, Wang J, Yan X, Jiang H, Xu H, Duan R, Tang B, Shen L
J Neurol Neurosurg Psychiatry 2022 Dec;93(12):1289-1298. Epub 2022 Sep 23 doi: 10.1136/jnnp-2022-329772. PMID: 36150844Free PMC Article
Sone J, Mori K, Inagaki T, Katsumata R, Takagi S, Yokoi S, Araki K, Kato T, Nakamura T, Koike H, Takashima H, Hashiguchi A, Kohno Y, Kurashige T, Kuriyama M, Takiyama Y, Tsuchiya M, Kitagawa N, Kawamoto M, Yoshimura H, Suto Y, Nakayasu H, Uehara N, Sugiyama H, Takahashi M, Kokubun N, Konno T, Katsuno M, Tanaka F, Iwasaki Y, Yoshida M, Sobue G
Brain 2016 Dec;139(Pt 12):3170-3186. Epub 2016 Oct 25 doi: 10.1093/brain/aww249. PMID: 27797808Free PMC Article
Mammen A
Handb Clin Neurol 2016;133:467-84. doi: 10.1016/B978-0-444-63432-0.00025-6. PMID: 27112692
Broccolini A, Mirabella M
Biochim Biophys Acta 2015 Apr;1852(4):644-50. Epub 2014 Aug 19 doi: 10.1016/j.bbadis.2014.08.007. PMID: 25149037
Mastaglia FL, Lamont PJ, Laing NG
Curr Opin Neurol 2005 Oct;18(5):504-10. doi: 10.1097/01.wco.0000175936.23945.b6. PMID: 16155432

Diagnosis

Iannibelli E, Gibertini S, Cheli M, Blasevich F, Cavaliere A, Riolo G, Ruggieri A, Maggi L
Acta Myol 2023;42(1):2-13. Epub 2023 Mar 31 doi: 10.36185/2532-1900-244. PMID: 37091525Free PMC Article
Nicolau S, Liewluck T, Milone M
Muscle Nerve 2020 Oct;62(4):445-454. Epub 2020 Jun 1 doi: 10.1002/mus.26914. PMID: 32478919
Sone J, Mori K, Inagaki T, Katsumata R, Takagi S, Yokoi S, Araki K, Kato T, Nakamura T, Koike H, Takashima H, Hashiguchi A, Kohno Y, Kurashige T, Kuriyama M, Takiyama Y, Tsuchiya M, Kitagawa N, Kawamoto M, Yoshimura H, Suto Y, Nakayasu H, Uehara N, Sugiyama H, Takahashi M, Kokubun N, Konno T, Katsuno M, Tanaka F, Iwasaki Y, Yoshida M, Sobue G
Brain 2016 Dec;139(Pt 12):3170-3186. Epub 2016 Oct 25 doi: 10.1093/brain/aww249. PMID: 27797808Free PMC Article
Jungbluth H, Sewry CA, Muntoni F
Semin Pediatr Neurol 2011 Dec;18(4):239-49. doi: 10.1016/j.spen.2011.10.005. PMID: 22172419
Mastaglia FL, Lamont PJ, Laing NG
Curr Opin Neurol 2005 Oct;18(5):504-10. doi: 10.1097/01.wco.0000175936.23945.b6. PMID: 16155432

Therapy

Pavlova AV, Shim JSC, Moss R, Maclean C, Brandie D, Mitchell L, Greig L, Parkinson E, Alexander L, Tzortziou Brown V, Morrissey D, Cooper K, Swinton PA
Br J Sports Med 2023 Oct;57(20):1327-1334. Epub 2023 May 11 doi: 10.1136/bjsports-2022-105754. PMID: 37169370Free PMC Article
Mammen A
Handb Clin Neurol 2016;133:467-84. doi: 10.1016/B978-0-444-63432-0.00025-6. PMID: 27112692
Wang HF, Shih YT, Chen CY, Chao HW, Lee MJ, Hsueh YP
J Clin Invest 2011 Dec;121(12):4820-37. Epub 2011 Nov 21 doi: 10.1172/JCI45677. PMID: 22105171Free PMC Article
Moreira PI, Honda K, Zhu X, Nunomura A, Casadesus G, Smith MA, Perry G
Neurology 2006 Jan 24;66(2 Suppl 1):S97-101. doi: 10.1212/01.wnl.0000192307.15103.83. PMID: 16432155
Megens-de Letter MA, Visser LH, van Doorn PA, Savelkoul HF
Eur Cytokine Netw 1999 Dec;10(4):471-8. PMID: 10586113

Prognosis

McKay NS, Gordon BA, Hornbeck RC, Dincer A, Flores S, Keefe SJ, Joseph-Mathurin N, Jack CR, Koeppe R, Millar PR, Ances BM, Chen CD, Daniels A, Hobbs DA, Jackson K, Koudelis D, Massoumzadeh P, McCullough A, Nickels ML, Rahmani F, Swisher L, Wang Q, Allegri RF, Berman SB, Brickman AM, Brooks WS, Cash DM, Chhatwal JP, Day GS, Farlow MR, la Fougère C, Fox NC, Fulham M, Ghetti B, Graff-Radford N, Ikeuchi T, Klunk W, Lee JH, Levin J, Martins R, Masters CL, McConathy J, Mori H, Noble JM, Reischl G, Rowe C, Salloway S, Sanchez-Valle R, Schofield PR, Shimada H, Shoji M, Su Y, Suzuki K, Vöglein J, Yakushev I, Cruchaga C, Hassenstab J, Karch C, McDade E, Perrin RJ, Xiong C, Morris JC, Bateman RJ, Benzinger TLS; Dominantly Inherited Alzheimer Network
Nat Neurosci 2023 Aug;26(8):1449-1460. Epub 2023 Jul 10 doi: 10.1038/s41593-023-01359-8. PMID: 37429916Free PMC Article
Mammen A
Handb Clin Neurol 2016;133:467-84. doi: 10.1016/B978-0-444-63432-0.00025-6. PMID: 27112692
Surampalli A, Khare M, Kubrussi G, Wencel M, Tanaja J, Donkervoort S, Osann K, Simon M, Wallace D, Smith C, M McInerney-Leo A, Kimonis V
J Genet Couns 2015 Oct;24(5):842-50. Epub 2015 Feb 26 doi: 10.1007/s10897-015-9819-7. PMID: 25716352Free PMC Article
Lu Y, Li X, Wang M, Li X, Zhang F, Li Y, Zhang M, Da Y, Yu J, Jia J
PLoS One 2012;7(6):e39288. Epub 2012 Jun 18 doi: 10.1371/journal.pone.0039288. PMID: 22723986Free PMC Article
Broccolini A, Gidaro T, Morosetti R, Sancricca C, Mirabella M
Acta Myol 2011 Oct;30(2):91-5. PMID: 22106710Free PMC Article

Clinical prediction guides

Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, Symoens S, De Paepe B, Barmada SJ, Shorter J, De Bleecker JL, Bogaert E, Dermaut B
Acta Neuropathol 2023 Jun;145(6):793-814. Epub 2023 Mar 31 doi: 10.1007/s00401-023-02565-1. PMID: 37000196Free PMC Article
Tian Y, Zhou L, Gao J, Jiao B, Zhang S, Xiao Q, Xue J, Wang Y, Liang H, Liu Y, Ji G, Mao C, Liu C, Dong L, Zhang L, Zhang S, Yi J, Zhao G, Luo Y, Sun Q, Zhou Y, Yi F, Chen X, Zhou C, Xie N, Luo M, Yao L, Hu Y, Zhang M, Zeng Q, Fang L, Long HY, Xie Y, Weng L, Chen S, Du J, Xu Q, Feng L, Huang Q, Hou X, Wang J, Xie B, Zhou L, Long L, Guo JF, Wang J, Yan X, Jiang H, Xu H, Duan R, Tang B, Shen L
J Neurol Neurosurg Psychiatry 2022 Dec;93(12):1289-1298. Epub 2022 Sep 23 doi: 10.1136/jnnp-2022-329772. PMID: 36150844Free PMC Article
Wang SC, Smith CD, Lombardo DM, Kimonis V
Neuromuscul Disord 2021 Aug;31(8):701-705. Epub 2021 Jun 12 doi: 10.1016/j.nmd.2021.06.005. PMID: 34244020
Nicolau S, Liewluck T, Milone M
Muscle Nerve 2020 Oct;62(4):445-454. Epub 2020 Jun 1 doi: 10.1002/mus.26914. PMID: 32478919
Sone J, Mori K, Inagaki T, Katsumata R, Takagi S, Yokoi S, Araki K, Kato T, Nakamura T, Koike H, Takashima H, Hashiguchi A, Kohno Y, Kurashige T, Kuriyama M, Takiyama Y, Tsuchiya M, Kitagawa N, Kawamoto M, Yoshimura H, Suto Y, Nakayasu H, Uehara N, Sugiyama H, Takahashi M, Kokubun N, Konno T, Katsuno M, Tanaka F, Iwasaki Y, Yoshida M, Sobue G
Brain 2016 Dec;139(Pt 12):3170-3186. Epub 2016 Oct 25 doi: 10.1093/brain/aww249. PMID: 27797808Free PMC Article

Recent systematic reviews

Leccese D, Rodolico GR, Sperti M, Cassandrini D, Bartolini M, Ingannato A, Nacmias B, Bracco L, Malandrini A, Santorelli FM, Bessi V, Matà S
Clin Neurol Neurosurg 2023 Sep;232:107875. Epub 2023 Jul 5 doi: 10.1016/j.clineuro.2023.107875. PMID: 37441929
Pavlova AV, Shim JSC, Moss R, Maclean C, Brandie D, Mitchell L, Greig L, Parkinson E, Alexander L, Tzortziou Brown V, Morrissey D, Cooper K, Swinton PA
Br J Sports Med 2023 Oct;57(20):1327-1334. Epub 2023 May 11 doi: 10.1136/bjsports-2022-105754. PMID: 37169370Free PMC Article

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