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McArdle disease, mild

MedGen UID:
865593
Concept ID:
C4017156
Finding
Synonym: MCARDLE DISEASE, MILD
 
OMIM®: 608455

Recent clinical studies

Etiology

Løkken N, Revsbech KL, Jacobsen LN, Martinuzzi A, Martin MÁ, Díaz-Manera J, Dominguez-Gonzalez C, Brondani G, Musumeci O, Granata F, Stefan C, Merino-Sanchez C, Peralta CN, Khawajazada T, Alonso-Pérez J, Toscano A, Vissing J
Neurology 2022 Oct 10;99(15):e1664-e1675. doi: 10.1212/WNL.0000000000200914. PMID: 35853747
Evans RA, McAuley H, Harrison EM, Shikotra A, Singapuri A, Sereno M, Elneima O, Docherty AB, Lone NI, Leavy OC, Daines L, Baillie JK, Brown JS, Chalder T, De Soyza A, Diar Bakerly N, Easom N, Geddes JR, Greening NJ, Hart N, Heaney LG, Heller S, Howard L, Hurst JR, Jacob J, Jenkins RG, Jolley C, Kerr S, Kon OM, Lewis K, Lord JM, McCann GP, Neubauer S, Openshaw PJM, Parekh D, Pfeffer P, Rahman NM, Raman B, Richardson M, Rowland M, Semple MG, Shah AM, Singh SJ, Sheikh A, Thomas D, Toshner M, Chalmers JD, Ho LP, Horsley A, Marks M, Poinasamy K, Wain LV, Brightling CE; PHOSP-COVID Collaborative Group
Lancet Respir Med 2021 Nov;9(11):1275-1287. Epub 2021 Oct 7 doi: 10.1016/S2213-2600(21)00383-0. PMID: 34627560Free PMC Article
Porritt RA, Binek A, Paschold L, Rivas MN, McArdle A, Yonker LM, Alter G, Chandnani HK, Lopez M, Fasano A, Van Eyk JE, Binder M, Arditi M
J Clin Invest 2021 Oct 15;131(20) doi: 10.1172/JCI151520. PMID: 34437303Free PMC Article
Apostolopoulou M, Corsini A, Roden M
Eur J Clin Invest 2015 Jul;45(7):745-54. Epub 2015 Jun 15 doi: 10.1111/eci.12461. PMID: 25991405
International Multiple Sclerosis Genetics Consortium (IMSGC)
Hum Mol Genet 2010 Mar 1;19(5):953-62. Epub 2009 Dec 9 doi: 10.1093/hmg/ddp542. PMID: 20007504Free PMC Article

Diagnosis

Taquet M, Skorniewska Z, De Deyn T, Hampshire A, Trender WR, Hellyer PJ, Chalmers JD, Ho LP, Horsley A, Marks M, Poinasamy K, Raman B, Leavy OC, Richardson M, Elneima O, McAuley HJC, Shikotra A, Singapuri A, Sereno M, Saunders RM, Harris VC, Rogers N, Houchen-Wolloff L, Greening NJ, Mansoori P, Harrison EM, Docherty AB, Lone NI, Quint J, Brightling CE, Wain LV, Evans RA, Geddes JR, Harrison PJ; PHOSP-COVID Study Collaborative Group
Lancet Psychiatry 2024 Sep;11(9):696-708. Epub 2024 Jul 31 doi: 10.1016/S2215-0366(24)00214-1. PMID: 39096931
Tobaly D, Laforêt P, Stojkovic T, Behin A, Petit FM, Barp A, Bello L, Carlier P, Carlier RY
Neuromuscul Disord 2022 Jan;32(1):5-14. Epub 2021 Aug 5 doi: 10.1016/j.nmd.2021.07.397. PMID: 34711478
Evans RA, McAuley H, Harrison EM, Shikotra A, Singapuri A, Sereno M, Elneima O, Docherty AB, Lone NI, Leavy OC, Daines L, Baillie JK, Brown JS, Chalder T, De Soyza A, Diar Bakerly N, Easom N, Geddes JR, Greening NJ, Hart N, Heaney LG, Heller S, Howard L, Hurst JR, Jacob J, Jenkins RG, Jolley C, Kerr S, Kon OM, Lewis K, Lord JM, McCann GP, Neubauer S, Openshaw PJM, Parekh D, Pfeffer P, Rahman NM, Raman B, Richardson M, Rowland M, Semple MG, Shah AM, Singh SJ, Sheikh A, Thomas D, Toshner M, Chalmers JD, Ho LP, Horsley A, Marks M, Poinasamy K, Wain LV, Brightling CE; PHOSP-COVID Collaborative Group
Lancet Respir Med 2021 Nov;9(11):1275-1287. Epub 2021 Oct 7 doi: 10.1016/S2213-2600(21)00383-0. PMID: 34627560Free PMC Article
Gilbert-Barness E
Ann Clin Lab Sci 2004 Winter;34(1):15-34. PMID: 15038665
Jinnai K, Kono N, Yamamoto Y, Kanda F, Ohno S, Tsutsumi M, Yamada Y, Kawachi M, Tarui S, Fujita T
Eur Neurol 1993;33(3):204-7. doi: 10.1159/000116937. PMID: 8467838

Therapy

Løkken N, Voermans NC, Andersen LK, Karazi W, Reason SL, Zweers H, Wilms G, Santalla A, Susanibar E, Lucia A, Vissing J
Nutrients 2023 Feb 7;15(4) doi: 10.3390/nu15040843. PMID: 36839201Free PMC Article
Apostolopoulou M, Corsini A, Roden M
Eur J Clin Invest 2015 Jul;45(7):745-54. Epub 2015 Jun 15 doi: 10.1111/eci.12461. PMID: 25991405
Preisler N, Laforêt P, Echaniz-Laguna A, Ørngreen MC, Lonsdorfer-Wolf E, Doutreleau S, Geny B, Stojkovic T, Piraud M, Petit FM, Vissing J
J Clin Endocrinol Metab 2013 Jul;98(7):E1235-40. Epub 2013 Jun 18 doi: 10.1210/jc.2013-1651. PMID: 23780368
Izumi R, Suzuki N, Kato K, Warita H, Tateyama M, Nakashima I, Itoyama Y
Intern Med 2010;49(15):1623-5. Epub 2010 Aug 2 doi: 10.2169/internalmedicine.49.3525. PMID: 20686302
Iffy L, Lindenthal J, Mcardle JJ, Ganesh V
Isr J Med Sci 1996 May;32(5):309-12. PMID: 8641870

Prognosis

Taquet M, Skorniewska Z, De Deyn T, Hampshire A, Trender WR, Hellyer PJ, Chalmers JD, Ho LP, Horsley A, Marks M, Poinasamy K, Raman B, Leavy OC, Richardson M, Elneima O, McAuley HJC, Shikotra A, Singapuri A, Sereno M, Saunders RM, Harris VC, Rogers N, Houchen-Wolloff L, Greening NJ, Mansoori P, Harrison EM, Docherty AB, Lone NI, Quint J, Brightling CE, Wain LV, Evans RA, Geddes JR, Harrison PJ; PHOSP-COVID Study Collaborative Group
Lancet Psychiatry 2024 Sep;11(9):696-708. Epub 2024 Jul 31 doi: 10.1016/S2215-0366(24)00214-1. PMID: 39096931
Evans RA, McAuley H, Harrison EM, Shikotra A, Singapuri A, Sereno M, Elneima O, Docherty AB, Lone NI, Leavy OC, Daines L, Baillie JK, Brown JS, Chalder T, De Soyza A, Diar Bakerly N, Easom N, Geddes JR, Greening NJ, Hart N, Heaney LG, Heller S, Howard L, Hurst JR, Jacob J, Jenkins RG, Jolley C, Kerr S, Kon OM, Lewis K, Lord JM, McCann GP, Neubauer S, Openshaw PJM, Parekh D, Pfeffer P, Rahman NM, Raman B, Richardson M, Rowland M, Semple MG, Shah AM, Singh SJ, Sheikh A, Thomas D, Toshner M, Chalmers JD, Ho LP, Horsley A, Marks M, Poinasamy K, Wain LV, Brightling CE; PHOSP-COVID Collaborative Group
Lancet Respir Med 2021 Nov;9(11):1275-1287. Epub 2021 Oct 7 doi: 10.1016/S2213-2600(21)00383-0. PMID: 34627560Free PMC Article
International Multiple Sclerosis Genetics Consortium (IMSGC)
Hum Mol Genet 2010 Mar 1;19(5):953-62. Epub 2009 Dec 9 doi: 10.1093/hmg/ddp542. PMID: 20007504Free PMC Article
Gilbert-Barness E
Ann Clin Lab Sci 2004 Winter;34(1):15-34. PMID: 15038665
McDermott M, Piegari G, Hofeldt FD
South Med J 1982 Mar;75(3):309-12. doi: 10.1097/00007611-198203000-00017. PMID: 6950524

Clinical prediction guides

Taquet M, Skorniewska Z, De Deyn T, Hampshire A, Trender WR, Hellyer PJ, Chalmers JD, Ho LP, Horsley A, Marks M, Poinasamy K, Raman B, Leavy OC, Richardson M, Elneima O, McAuley HJC, Shikotra A, Singapuri A, Sereno M, Saunders RM, Harris VC, Rogers N, Houchen-Wolloff L, Greening NJ, Mansoori P, Harrison EM, Docherty AB, Lone NI, Quint J, Brightling CE, Wain LV, Evans RA, Geddes JR, Harrison PJ; PHOSP-COVID Study Collaborative Group
Lancet Psychiatry 2024 Sep;11(9):696-708. Epub 2024 Jul 31 doi: 10.1016/S2215-0366(24)00214-1. PMID: 39096931
Løkken N, Revsbech KL, Jacobsen LN, Martinuzzi A, Martin MÁ, Díaz-Manera J, Dominguez-Gonzalez C, Brondani G, Musumeci O, Granata F, Stefan C, Merino-Sanchez C, Peralta CN, Khawajazada T, Alonso-Pérez J, Toscano A, Vissing J
Neurology 2022 Oct 10;99(15):e1664-e1675. doi: 10.1212/WNL.0000000000200914. PMID: 35853747
Tobaly D, Laforêt P, Stojkovic T, Behin A, Petit FM, Barp A, Bello L, Carlier P, Carlier RY
Neuromuscul Disord 2022 Jan;32(1):5-14. Epub 2021 Aug 5 doi: 10.1016/j.nmd.2021.07.397. PMID: 34711478
Witting N, Duno M, Piraud M, Vissing J
JAMA Neurol 2014 Jan;71(1):88-90. doi: 10.1001/jamaneurol.2013.3209. PMID: 24216972
Chevessier F, Peter C, Mersdorf U, Girard E, Krejci E, McArdle JJ, Witzemann V
Neurobiol Dis 2012 Mar;45(3):851-61. Epub 2011 Dec 8 doi: 10.1016/j.nbd.2011.10.024. PMID: 22178625

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