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MORIMOTO-RYU-MALICDAN NEUROMUSCULAR SYNDROME(MRMNS)

MedGen UID:
1057087
Concept ID:
CN378698
Disease or Syndrome
Synonym: MRMNS
 
Gene (location): RFC4 (3q27.3)
 
OMIM®: 621010

Definition

Morimoto-Ryu-Malicdan neuromuscular syndrome (MRMNS) is characterized by incoordination and muscle weakness, hearing impairment, and decreased body weight (Morimoto et al., 2024). [from OMIM]

Professional guidelines

PubMed

Qadir N, Sahetya S, Munshi L, Summers C, Abrams D, Beitler J, Bellani G, Brower RG, Burry L, Chen JT, Hodgson C, Hough CL, Lamontagne F, Law A, Papazian L, Pham T, Rubin E, Siuba M, Telias I, Patolia S, Chaudhuri D, Walkey A, Rochwerg B, Fan E
Am J Respir Crit Care Med 2024 Jan 1;209(1):24-36. doi: 10.1164/rccm.202311-2011ST. PMID: 38032683Free PMC Article
van Doorn PA, Van den Bergh PYK, Hadden RDM, Avau B, Vankrunkelsven P, Attarian S, Blomkwist-Markens PH, Cornblath DR, Goedee HS, Harbo T, Jacobs BC, Kusunoki S, Lehmann HC, Lewis RA, Lunn MP, Nobile-Orazio E, Querol L, Rajabally YA, Umapathi T, Topaloglu HA, Willison HJ
Eur J Neurol 2023 Dec;30(12):3646-3674. Epub 2023 Oct 10 doi: 10.1111/ene.16073. PMID: 37814552
Smith HAB, Besunder JB, Betters KA, Johnson PN, Srinivasan V, Stormorken A, Farrington E, Golianu B, Godshall AJ, Acinelli L, Almgren C, Bailey CH, Boyd JM, Cisco MJ, Damian M, deAlmeida ML, Fehr J, Fenton KE, Gilliland F, Grant MJC, Howell J, Ruggles CA, Simone S, Su F, Sullivan JE, Tegtmeyer K, Traube C, Williams S, Berkenbosch JW
Pediatr Crit Care Med 2022 Feb 1;23(2):e74-e110. doi: 10.1097/PCC.0000000000002873. PMID: 35119438

Recent clinical studies

Etiology

Comperat L, Pegat A, Honnorat J, Joubert B
Curr Opin Neurol 2022 Oct 1;35(5):597-603. Epub 2022 Aug 19 doi: 10.1097/WCO.0000000000001104. PMID: 35989569
Benditt JO
Respir Care 2019 Jun;64(6):679-688. doi: 10.4187/respcare.06827. PMID: 31110036
Camilleri M, Chedid V, Ford AC, Haruma K, Horowitz M, Jones KL, Low PA, Park SY, Parkman HP, Stanghellini V
Nat Rev Dis Primers 2018 Nov 1;4(1):41. doi: 10.1038/s41572-018-0038-z. PMID: 30385743
Henderson FC Sr, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S, Singman EL, Voermans NC
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):195-211. Epub 2017 Feb 21 doi: 10.1002/ajmg.c.31549. PMID: 28220607
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article

Diagnosis

De Wel B, Claeys KG
Curr Opin Neurol 2021 Oct 1;34(5):714-720. doi: 10.1097/WCO.0000000000000963. PMID: 34914668
Camilleri M, Chedid V, Ford AC, Haruma K, Horowitz M, Jones KL, Low PA, Park SY, Parkman HP, Stanghellini V
Nat Rev Dis Primers 2018 Nov 1;4(1):41. doi: 10.1038/s41572-018-0038-z. PMID: 30385743
Sawlani K, Katirji B
Continuum (Minneap Minn) 2017 Oct;23(5, Peripheral Nerve and Motor Neuron Disorders):1437-1450. doi: 10.1212/CON.0000000000000520. PMID: 28968370
Sharan AD, Kaye D, Charles Malveaux WM, Riew KD
J Am Acad Orthop Surg 2012 Dec;20(12):766-74. doi: 10.5435/JAAOS-20-12-766. PMID: 23203936
Boyajian-O'Neill LA, McClain RL, Coleman MK, Thomas PP
J Am Osteopath Assoc 2008 Nov;108(11):657-64. doi: 10.7556/jaoa.2008.108.11.657. PMID: 19011229

Therapy

Rodríguez-Grande EI, Vargas-Pinilla OC, Torres-Narvaez MR, Rodríguez-Malagón N
Sci Rep 2022 Sep 2;12(1):14988. doi: 10.1038/s41598-022-19086-8. PMID: 36056081Free PMC Article
Galasso A, Urits I, An D, Nguyen D, Borchart M, Yazdi C, Manchikanti L, Kaye RJ, Kaye AD, Mancuso KF, Viswanath O
Curr Pain Headache Rep 2020 Jun 27;24(8):43. doi: 10.1007/s11916-020-00877-5. PMID: 32594264
Serrera-Figallo MA, Ruiz-de-León-Hernández G, Torres-Lagares D, Castro-Araya A, Torres-Ferrerosa O, Hernández-Pacheco E, Gutierrez-Perez JL
Toxins (Basel) 2020 Feb 11;12(2) doi: 10.3390/toxins12020112. PMID: 32053883Free PMC Article
Peters S, Page MJ, Coppieters MW, Ross M, Johnston V
Cochrane Database Syst Rev 2016 Feb 17;2(2):CD004158. doi: 10.1002/14651858.CD004158.pub3. PMID: 26884379Free PMC Article
Boyajian-O'Neill LA, McClain RL, Coleman MK, Thomas PP
J Am Osteopath Assoc 2008 Nov;108(11):657-64. doi: 10.7556/jaoa.2008.108.11.657. PMID: 19011229

Prognosis

Glenn MD, Jabari D
Neurol Clin 2020 Aug;38(3):553-564. doi: 10.1016/j.ncl.2020.03.010. PMID: 32703468
Nordstrøm M, Retterstøl K, Hope S, Kolset SO
Lancet Child Adolesc Health 2020 Jun;4(6):455-464. doi: 10.1016/S2352-4642(19)30400-6. PMID: 32450124
National Heart, Lung, and Blood Institute PETAL Clinical Trials Network, Moss M, Huang DT, Brower RG, Ferguson ND, Ginde AA, Gong MN, Grissom CK, Gundel S, Hayden D, Hite RD, Hou PC, Hough CL, Iwashyna TJ, Khan A, Liu KD, Talmor D, Thompson BT, Ulysse CA, Yealy DM, Angus DC
N Engl J Med 2019 May 23;380(21):1997-2008. Epub 2019 May 19 doi: 10.1056/NEJMoa1901686. PMID: 31112383Free PMC Article
Bellani G, Laffey JG, Pham T, Fan E, Brochard L, Esteban A, Gattinoni L, van Haren F, Larsson A, McAuley DF, Ranieri M, Rubenfeld G, Thompson BT, Wrigge H, Slutsky AS, Pesenti A; LUNG SAFE Investigators; ESICM Trials Group
JAMA 2016 Feb 23;315(8):788-800. doi: 10.1001/jama.2016.0291. PMID: 26903337
Papazian L, Forel JM, Gacouin A, Penot-Ragon C, Perrin G, Loundou A, Jaber S, Arnal JM, Perez D, Seghboyan JM, Constantin JM, Courant P, Lefrant JY, Guérin C, Prat G, Morange S, Roch A; ACURASYS Study Investigators
N Engl J Med 2010 Sep 16;363(12):1107-16. doi: 10.1056/NEJMoa1005372. PMID: 20843245

Clinical prediction guides

Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium, Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A
Brain 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. PMID: 37450567Free PMC Article
Trivedi S, Chakravarty A
Curr Neurol Neurosci Rep 2022 Aug;22(8):515-529. Epub 2022 Jun 21 doi: 10.1007/s11910-022-01213-7. PMID: 35727463Free PMC Article
Punga AR, Maddison P, Heckmann JM, Guptill JT, Evoli A
Lancet Neurol 2022 Feb;21(2):176-188. doi: 10.1016/S1474-4422(21)00297-0. PMID: 35065040
Michel F, Decavel P, Toussirot E, Tatu L, Aleton E, Monnier G, Garbuio P, Parratte B
Ann Phys Rehabil Med 2013 Jul;56(5):371-83. Epub 2013 Apr 25 doi: 10.1016/j.rehab.2013.04.003. PMID: 23684470
Schweickert WD, Hall J
Chest 2007 May;131(5):1541-9. doi: 10.1378/chest.06-2065. PMID: 17494803

Recent systematic reviews

Liampas A, Parperis K, Erotocritou MF, Nteveros A, Papadopoulou M, Moschovos C, Akil M, Coaccioli S, Hadjigeorgiou GM, Hadjivassiliou M, Zis P
Eur J Neurol 2023 Jan;30(1):255-265. Epub 2022 Sep 23 doi: 10.1111/ene.15555. PMID: 36086910Free PMC Article
Rodríguez-Grande EI, Vargas-Pinilla OC, Torres-Narvaez MR, Rodríguez-Malagón N
Sci Rep 2022 Sep 2;12(1):14988. doi: 10.1038/s41598-022-19086-8. PMID: 36056081Free PMC Article
Rodríguez-Grande EI, Buitrago-López A, Torres-Narváez MR, Serrano-Villar Y, Verdugo-Paiva F, Ávila C
Sci Rep 2022 Jul 29;12(1):13051. doi: 10.1038/s41598-022-16332-x. PMID: 35906275Free PMC Article
Johanna Josepha Op't Hoog SA, Eskes AM, Johanna van Mersbergen-de Bruin MP, Pelgrim T, van der Hoeven H, Vermeulen H, Maria Vloet LC
Aust Crit Care 2022 May;35(3):309-320. Epub 2021 Jun 10 doi: 10.1016/j.aucc.2021.04.010. PMID: 34120805
van Sleuwen BE, Engelberts AC, Boere-Boonekamp MM, Kuis W, Schulpen TW, L'Hoir MP
Pediatrics 2007 Oct;120(4):e1097-106. doi: 10.1542/peds.2006-2083. PMID: 17908730

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