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Respiratory Failure Related to Neuromuscular Disorder

MedGen UID:
768729
Concept ID:
C3640089
Disease or Syndrome
Synonym: Respiratory Failure due to Neuromuscular Disorder

Definition

Impaired gas exchange by the respiratory system resulting in hypoxemia and decreased oxygenation of the tissues that may be associated with increased arterial levels of carbon dioxide; the respiratory failure is due to a neuromuscular disorder. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRespiratory Failure Related to Neuromuscular Disorder

Professional guidelines

PubMed

Rao AK, Sobel J, Chatham-Stephens K, Luquez C
MMWR Recomm Rep 2021 May 7;70(2):1-30. doi: 10.15585/mmwr.rr7002a1. PMID: 33956777Free PMC Article
van den Berg B, Walgaard C, Drenthen J, Fokke C, Jacobs BC, van Doorn PA
Nat Rev Neurol 2014 Aug;10(8):469-82. Epub 2014 Jul 15 doi: 10.1038/nrneurol.2014.121. PMID: 25023340
Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, Aloysius A, Morrison L, Main M, Crawford TO, Trela A; Participants of the International Conference on SMA Standard of Care
J Child Neurol 2007 Aug;22(8):1027-49. doi: 10.1177/0883073807305788. PMID: 17761659

Recent clinical studies

Etiology

Khan A, Frazer-Green L, Amin R, Wolfe L, Faulkner G, Casey K, Sharma G, Selim B, Zielinski D, Aboussouan LS, McKim D, Gay P
Chest 2023 Aug;164(2):394-413. Epub 2023 Mar 13 doi: 10.1016/j.chest.2023.03.011. PMID: 36921894
James E, Ellis C, Brassington R, Sathasivam S, Young CA
Cochrane Database Syst Rev 2022 May 20;5(5):CD006981. doi: 10.1002/14651858.CD006981.pub3. PMID: 35593746Free PMC Article
Brennan M, McDonnell MJ, Duignan N, Gargoum F, Rutherford RM
Respir Med 2022 Mar;193:106740. Epub 2022 Jan 15 doi: 10.1016/j.rmed.2022.106740. PMID: 35123355
Miller T, Cudkowicz M, Shaw PJ, Andersen PM, Atassi N, Bucelli RC, Genge A, Glass J, Ladha S, Ludolph AL, Maragakis NJ, McDermott CJ, Pestronk A, Ravits J, Salachas F, Trudell R, Van Damme P, Zinman L, Bennett CF, Lane R, Sandrock A, Runz H, Graham D, Houshyar H, McCampbell A, Nestorov I, Chang I, McNeill M, Fanning L, Fradette S, Ferguson TA
N Engl J Med 2020 Jul 9;383(2):109-119. doi: 10.1056/NEJMoa2003715. PMID: 32640130
Gilhus NE, Tzartos S, Evoli A, Palace J, Burns TM, Verschuuren JJGM
Nat Rev Dis Primers 2019 May 2;5(1):30. doi: 10.1038/s41572-019-0079-y. PMID: 31048702

Diagnosis

Masrori P, Van Damme P
Eur J Neurol 2020 Oct;27(10):1918-1929. Epub 2020 Jul 7 doi: 10.1111/ene.14393. PMID: 32526057Free PMC Article
Ciafaloni E
Continuum (Minneap Minn) 2019 Dec;25(6):1767-1784. doi: 10.1212/CON.0000000000000800. PMID: 31794470
Gilhus NE, Tzartos S, Evoli A, Palace J, Burns TM, Verschuuren JJGM
Nat Rev Dis Primers 2019 May 2;5(1):30. doi: 10.1038/s41572-019-0079-y. PMID: 31048702
van den Berg B, Walgaard C, Drenthen J, Fokke C, Jacobs BC, van Doorn PA
Nat Rev Neurol 2014 Aug;10(8):469-82. Epub 2014 Jul 15 doi: 10.1038/nrneurol.2014.121. PMID: 25023340
Wijesekera LC, Leigh PN
Orphanet J Rare Dis 2009 Feb 3;4:3. doi: 10.1186/1750-1172-4-3. PMID: 19192301Free PMC Article

Therapy

Salem JE, Bretagne M, Abbar B, Leonard-Louis S, Ederhy S, Redheuil A, Boussouar S, Nguyen LS, Procureur A, Stein F, Fenioux C, Devos P, Gougis P, Dres M, Demoule A, Psimaras D, Lenglet T, Maisonobe T, De Chambrun MP, Hekimian G, Straus C, Gonzalez-Bermejo J, Klatzmann D, Rigolet A, Guillaume-Jugnot P, Champtiaux N, Benveniste O, Weiss N, Saheb S, Rouvier P, Plu I, Gandjbakhch E, Kerneis M, Hammoudi N, Zahr N, Llontop C, Morelot-Panzini C, Lehmann L, Qin J, Moslehi JJ, Rosenzwajg M, Similowski T, Allenbach Y
Cancer Discov 2023 May 4;13(5):1100-1115. doi: 10.1158/2159-8290.CD-22-1180. PMID: 36815259
Miller T, Cudkowicz M, Shaw PJ, Andersen PM, Atassi N, Bucelli RC, Genge A, Glass J, Ladha S, Ludolph AL, Maragakis NJ, McDermott CJ, Pestronk A, Ravits J, Salachas F, Trudell R, Van Damme P, Zinman L, Bennett CF, Lane R, Sandrock A, Runz H, Graham D, Houshyar H, McCampbell A, Nestorov I, Chang I, McNeill M, Fanning L, Fradette S, Ferguson TA
N Engl J Med 2020 Jul 9;383(2):109-119. doi: 10.1056/NEJMoa2003715. PMID: 32640130
Ciafaloni E
Continuum (Minneap Minn) 2019 Dec;25(6):1767-1784. doi: 10.1212/CON.0000000000000800. PMID: 31794470
Safa H, Johnson DH, Trinh VA, Rodgers TE, Lin H, Suarez-Almazor ME, Fa'ak F, Saberian C, Yee C, Davies MA, Tummala S, Woodman K, Abdel-Wahab N, Diab A
J Immunother Cancer 2019 Nov 21;7(1):319. doi: 10.1186/s40425-019-0774-y. PMID: 31753014Free PMC Article
Gilhus NE, Tzartos S, Evoli A, Palace J, Burns TM, Verschuuren JJGM
Nat Rev Dis Primers 2019 May 2;5(1):30. doi: 10.1038/s41572-019-0079-y. PMID: 31048702

Prognosis

Vidovic M, Müschen LH, Brakemeier S, Machetanz G, Naumann M, Castro-Gomez S
Cells 2023 Feb 24;12(5) doi: 10.3390/cells12050736. PMID: 36899872Free PMC Article
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R
Brain 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831Free PMC Article
Shang P, Zhu M, Baker M, Feng J, Zhou C, Zhang HL
Expert Rev Clin Immunol 2020 Nov;16(11):1053-1064. Epub 2020 Nov 25 doi: 10.1080/1744666X.2021.1840355. PMID: 33112177
van den Berg B, Walgaard C, Drenthen J, Fokke C, Jacobs BC, van Doorn PA
Nat Rev Neurol 2014 Aug;10(8):469-82. Epub 2014 Jul 15 doi: 10.1038/nrneurol.2014.121. PMID: 25023340
Wijesekera LC, Leigh PN
Orphanet J Rare Dis 2009 Feb 3;4:3. doi: 10.1186/1750-1172-4-3. PMID: 19192301Free PMC Article

Clinical prediction guides

Vidovic M, Müschen LH, Brakemeier S, Machetanz G, Naumann M, Castro-Gomez S
Cells 2023 Feb 24;12(5) doi: 10.3390/cells12050736. PMID: 36899872Free PMC Article
Silva Andrade B, Siqueira S, de Assis Soares WR, de Souza Rangel F, Santos NO, Dos Santos Freitas A, Ribeiro da Silveira P, Tiwari S, Alzahrani KJ, Góes-Neto A, Azevedo V, Ghosh P, Barh D
Viruses 2021 Apr 18;13(4) doi: 10.3390/v13040700. PMID: 33919537Free PMC Article
Shang P, Zhu M, Baker M, Feng J, Zhou C, Zhang HL
Expert Rev Clin Immunol 2020 Nov;16(11):1053-1064. Epub 2020 Nov 25 doi: 10.1080/1744666X.2021.1840355. PMID: 33112177
Miller T, Cudkowicz M, Shaw PJ, Andersen PM, Atassi N, Bucelli RC, Genge A, Glass J, Ladha S, Ludolph AL, Maragakis NJ, McDermott CJ, Pestronk A, Ravits J, Salachas F, Trudell R, Van Damme P, Zinman L, Bennett CF, Lane R, Sandrock A, Runz H, Graham D, Houshyar H, McCampbell A, Nestorov I, Chang I, McNeill M, Fanning L, Fradette S, Ferguson TA
N Engl J Med 2020 Jul 9;383(2):109-119. doi: 10.1056/NEJMoa2003715. PMID: 32640130
van den Berg B, Walgaard C, Drenthen J, Fokke C, Jacobs BC, van Doorn PA
Nat Rev Neurol 2014 Aug;10(8):469-82. Epub 2014 Jul 15 doi: 10.1038/nrneurol.2014.121. PMID: 25023340

Recent systematic reviews

Khan A, Frazer-Green L, Amin R, Wolfe L, Faulkner G, Casey K, Sharma G, Selim B, Zielinski D, Aboussouan LS, McKim D, Gay P
Chest 2023 Aug;164(2):394-413. Epub 2023 Mar 13 doi: 10.1016/j.chest.2023.03.011. PMID: 36921894
Mroczek M, Iyadurai S
Int J Mol Sci 2023 Jan 23;24(3) doi: 10.3390/ijms24032260. PMID: 36768582Free PMC Article
James E, Ellis C, Brassington R, Sathasivam S, Young CA
Cochrane Database Syst Rev 2022 May 20;5(5):CD006981. doi: 10.1002/14651858.CD006981.pub3. PMID: 35593746Free PMC Article
Safa H, Johnson DH, Trinh VA, Rodgers TE, Lin H, Suarez-Almazor ME, Fa'ak F, Saberian C, Yee C, Davies MA, Tummala S, Woodman K, Abdel-Wahab N, Diab A
J Immunother Cancer 2019 Nov 21;7(1):319. doi: 10.1186/s40425-019-0774-y. PMID: 31753014Free PMC Article
Ng L, Khan F, Young CA, Galea M
Cochrane Database Syst Rev 2017 Jan 10;1(1):CD011776. doi: 10.1002/14651858.CD011776.pub2. PMID: 28072907Free PMC Article

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