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Neuromuscular disease

MedGen UID:
10323
Concept ID:
C0027868
Disease or Syndrome
Synonyms: Neuromuscular Diseases; Neuromuscular disorder; Neuromyopathy
SNOMED CT: Combined disorder of muscle AND peripheral nerve (257277002); Neuromuscular disorder (257277002); Neuromyopathy (255522009); Myoneural disorder (257277002)
 
Monarch Initiative: MONDO:0019056
Orphanet: ORPHA68381

Definition

A group of disorders that affect the neuromuscular system. They may be acquired or inherited and tend to be progressive, resulting in debilitating muscle weakness. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeuromuscular disease
Follow this link to review classifications for Neuromuscular disease in Orphanet.

Professional guidelines

PubMed

Krall JTW, Chakravartty A, Caress JB, Files DC
Chest 2023 Dec;164(6):1454-1461. doi: 10.1016/j.chest.2023.09.009. PMID: 38070961
Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M
Arch Pediatr 2020 Dec;27(7S):7S29-7S34. doi: 10.1016/S0929-693X(20)30274-8. PMID: 33357594
Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, Case LE, Clemens PR, Hadjiyannakis S, Pandya S, Street N, Tomezsko J, Wagner KR, Ward LM, Weber DR; DMD Care Considerations Working Group
Lancet Neurol 2018 Mar;17(3):251-267. Epub 2018 Feb 3 doi: 10.1016/S1474-4422(18)30024-3. PMID: 29395989Free PMC Article

Recent clinical studies

Therapy

Watson K, Egerton T, Sheers N, Retica S, McGaw R, Clohessy T, Webster P, Berlowitz DJ
Eur Respir Rev 2022 Dec 31;31(166) Epub 2022 Nov 29 doi: 10.1183/16000617.0065-2022. PMID: 36450369Free PMC Article
Ciafaloni E
Continuum (Minneap Minn) 2019 Dec;25(6):1767-1784. doi: 10.1212/CON.0000000000000800. PMID: 31794470
Silva IS, Pedrosa R, Azevedo IG, Forbes AM, Fregonezi GA, Dourado Junior ME, Lima SR, Ferreira GM
Cochrane Database Syst Rev 2019 Sep 5;9(9):CD011711. doi: 10.1002/14651858.CD011711.pub2. PMID: 31487757Free PMC Article
Khan F, Ng L, Amatya B, Brand C, Turner-Stokes L
Eur J Phys Rehabil Med 2011 Dec;47(4):607-12. Epub 2011 Sep 13 PMID: 21912364
Emmons RA, McCullough ME
J Pers Soc Psychol 2003 Feb;84(2):377-89. doi: 10.1037//0022-3514.84.2.377. PMID: 12585811

Prognosis

Krall JTW, Chakravartty A, Caress JB, Files DC
Chest 2023 Dec;164(6):1454-1461. doi: 10.1016/j.chest.2023.09.009. PMID: 38070961
Angilletta I, Ferrante R, Giansante R, Lombardi L, Babore A, Dell'Elice A, Alessandrelli E, Notarangelo S, Ranaudo M, Palmarini C, De Laurenzi V, Stuppia L, Rossi C
Int J Mol Sci 2023 Oct 3;24(19) doi: 10.3390/ijms241914873. PMID: 37834320Free 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
Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M
Arch Pediatr 2020 Dec;27(7S):7S29-7S34. doi: 10.1016/S0929-693X(20)30274-8. PMID: 33357594
Khan F, Ng L, Amatya B, Brand C, Turner-Stokes L
Eur J Phys Rehabil Med 2011 Dec;47(4):607-12. Epub 2011 Sep 13 PMID: 21912364

Clinical prediction guides

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
Wijntjes J, van Alfen N
Muscle Nerve 2021 Apr;63(4):455-466. Epub 2020 Oct 13 doi: 10.1002/mus.27081. PMID: 33051891Free PMC Article
Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M
Arch Pediatr 2020 Dec;27(7S):7S29-7S34. doi: 10.1016/S0929-693X(20)30274-8. PMID: 33357594
Halliday SJ, Wang L, Yu C, Vickers BP, Newman JH, Fremont RD, Huerta LE, Brittain EL, Hemnes AR
Respir Med 2020 Apr-May;165:105933. Epub 2020 Mar 19 doi: 10.1016/j.rmed.2020.105933. PMID: 32308201Free PMC Article
Keddie S, Lunn MP
Curr Opin Neurol 2018 Oct;31(5):551-558. doi: 10.1097/WCO.0000000000000610. PMID: 30138145

Recent systematic reviews

Watson K, Egerton T, Sheers N, Retica S, McGaw R, Clohessy T, Webster P, Berlowitz DJ
Eur Respir Rev 2022 Dec 31;31(166) Epub 2022 Nov 29 doi: 10.1183/16000617.0065-2022. PMID: 36450369Free PMC Article
Bernardes Neto SCG, Torres-Castro R, Lima Í, Resqueti VR, Fregonezi GAF
BMJ Open 2021 Sep 14;11(9):e047449. doi: 10.1136/bmjopen-2020-047449. PMID: 34521661Free PMC Article
Silva IS, Pedrosa R, Azevedo IG, Forbes AM, Fregonezi GA, Dourado Junior ME, Lima SR, Ferreira GM
Cochrane Database Syst Rev 2019 Sep 5;9(9):CD011711. doi: 10.1002/14651858.CD011711.pub2. PMID: 31487757Free PMC Article
Hughes RA, Swan AV, van Doorn PA
Cochrane Database Syst Rev 2014 Sep 19;2014(9):CD002063. doi: 10.1002/14651858.CD002063.pub6. PMID: 25238327Free PMC Article
Khan F, Ng L, Amatya B, Brand C, Turner-Stokes L
Eur J Phys Rehabil Med 2011 Dec;47(4):607-12. Epub 2011 Sep 13 PMID: 21912364

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