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Congenital myasthenic syndrome 12(CMS12)

MedGen UID:
765249
Concept ID:
C3552335
Disease or Syndrome
Synonyms: CMS12; Myasthenia, congenital, 12, with tubular aggregates; MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1
 
GFPT1 (2p13.3)
 
Monarch Initiative: MONDO:0012518
OMIM®: 610542

Definition

Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Senderek et al., 2011). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

Additional description

From MedlinePlus Genetics
Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. However, any of the muscles used for movement (skeletal muscles) can be affected in this condition. Due to muscle weakness, affected infants may have feeding difficulties. Development of motor skills such as crawling or walking may be delayed. The severity of the myasthenia varies greatly, with some people experiencing minor weakness and others having such severe weakness that they are unable to walk.

Some individuals have episodes of breathing problems that may be triggered by fevers or infection. Severely affected individuals may also experience short pauses in breathing (apnea) that can lead to a bluish appearance of the skin or lips (cyanosis).  https://medlineplus.gov/genetics/condition/congenital-myasthenic-syndrome

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital myasthenic syndrome 12

Professional guidelines

PubMed

Özsoy Ö, Cinleti T, Günay Ç, Sarıkaya Uzan G, Giray Bozkaya Ö, Çağlayan AO, Hız Kurul S, Yiş U
Acta Neurol Belg 2023 Dec;123(6):2325-2335. Epub 2023 Sep 1 doi: 10.1007/s13760-023-02370-3. PMID: 37656362

Recent clinical studies

Etiology

Polavarapu K, Sunitha B, Töpf A, Preethish-Kumar V, Thompson R, Vengalil S, Nashi S, Bardhan M, Sanka SB, Huddar A, Unnikrishnan G, Arunachal G, Girija MS, Porter A, Azuma Y, Lorenzoni PJ, Baskar D, Anjanappa RM, Keertipriya M, Padmanabh H, Harikrishna GV, Laurie S, Matalonga L, Horvath R, Nalini A, Lochmüller H
Brain 2024 Jan 4;147(1):281-296. doi: 10.1093/brain/awad315. PMID: 37721175Free PMC Article
Vianello A, Racca F, Vita GL, Pierucci P, Vita G
Handb Clin Neurol 2022;189:259-270. doi: 10.1016/B978-0-323-91532-8.00014-8. PMID: 36031308
Vahidnezhad H, Youssefian L, Harvey N, Tavasoli AR, Saeidian AH, Sotoudeh S, Varghaei A, Mahmoudi H, Mansouri P, Mozafari N, Zargari O, Zeinali S, Uitto J
Hum Mutat 2022 Dec;43(12):1706-1731. Epub 2022 Jul 29 doi: 10.1002/humu.24434. PMID: 35815343Free PMC Article
Vrinten C, van der Zwaag AM, Weinreich SS, Scholten RJ, Verschuuren JJ
Cochrane Database Syst Rev 2014 Dec 17;2014(12):CD010028. doi: 10.1002/14651858.CD010028.pub2. PMID: 25515947Free PMC Article
Barišić N, Chaouch A, Müller JS, Lochmüller H
Eur J Paediatr Neurol 2011 May;15(3):189-96. Epub 2011 Apr 17 doi: 10.1016/j.ejpn.2011.03.006. PMID: 21498094

Diagnosis

Polavarapu K, Sunitha B, Töpf A, Preethish-Kumar V, Thompson R, Vengalil S, Nashi S, Bardhan M, Sanka SB, Huddar A, Unnikrishnan G, Arunachal G, Girija MS, Porter A, Azuma Y, Lorenzoni PJ, Baskar D, Anjanappa RM, Keertipriya M, Padmanabh H, Harikrishna GV, Laurie S, Matalonga L, Horvath R, Nalini A, Lochmüller H
Brain 2024 Jan 4;147(1):281-296. doi: 10.1093/brain/awad315. PMID: 37721175Free PMC Article
Kouyoumdjian JA, Estephan EP
Arq Neuropsiquiatr 2023 Dec;81(12):1040-1052. Epub 2023 Dec 29 doi: 10.1055/s-0043-1777749. PMID: 38157872Free PMC Article
Allen NM, O'Rahelly M, Eymard B, Chouchane M, Hahn A, Kearns G, Kim DS, Byun SY, Nguyen CE, Schara-Schmidt U, Kölbel H, Marina AD, Schneider-Gold C, Roefke K, Thieme A, Van den Bergh P, Avalos G, Álvarez-Velasco R, Natera-de Benito D, Cheng MHM, Chan WK, Wan HS, Thomas MA, Borch L, Lauzon J, Kornblum C, Reimann J, Mueller A, Kuntzer T, Norwood F, Ramdas S, Jacobson LW, Jie X, Fernandez-Garcia MA, Wraige E, Lim M, Lin JP, Claeys KG, Aktas S, Oskoui M, Hacohen Y, Masud A, Leite MI, Palace J, De Vivo D, Vincent A, Jungbluth H
Brain 2023 Oct 3;146(10):4233-4246. doi: 10.1093/brain/awad153. PMID: 37186601Free PMC Article
Barišić N, Chaouch A, Müller JS, Lochmüller H
Eur J Paediatr Neurol 2011 May;15(3):189-96. Epub 2011 Apr 17 doi: 10.1016/j.ejpn.2011.03.006. PMID: 21498094
Engel AG
Neurol Clin 1994 May;12(2):401-37. PMID: 8041349

Therapy

McMacken G, Whittaker RG, Wake R, Lochmuller H, Horvath R
J Neurol 2023 Jun;270(6):3112-3119. Epub 2023 Mar 4 doi: 10.1007/s00415-023-11643-z. PMID: 36869887Free PMC Article
Natera-de Benito D, Bestué M, Vilchez JJ, Evangelista T, Töpf A, García-Ribes A, Trujillo-Tiebas MJ, García-Hoyos M, Ortez C, Camacho A, Jiménez E, Dusl M, Abicht A, Lochmüller H, Colomer J, Nascimento A
Neuromuscul Disord 2016 Feb;26(2):153-9. Epub 2015 Nov 23 doi: 10.1016/j.nmd.2015.10.013. PMID: 26782015
Vrinten C, van der Zwaag AM, Weinreich SS, Scholten RJ, Verschuuren JJ
Cochrane Database Syst Rev 2014 Dec 17;2014(12):CD010028. doi: 10.1002/14651858.CD010028.pub2. PMID: 25515947Free PMC Article
Lorenzoni PJ, Scola RH, Kay CS, Filla L, Miranda AP, Pinheiro JM, Chaouch A, Lochmüller H, Werneck LC
J Neurol Sci 2013 Aug 15;331(1-2):155-7. Epub 2013 Jun 19 doi: 10.1016/j.jns.2013.05.017. PMID: 23790237
Schara U, Barisic N, Deschauer M, Lindberg C, Straub V, Strigl-Pill N, Wendt M, Abicht A, Müller JS, Lochmüller H
Neuromuscul Disord 2009 Dec;19(12):828-32. Epub 2009 Oct 17 doi: 10.1016/j.nmd.2009.09.008. PMID: 19837590

Prognosis

Özsoy Ö, Cinleti T, Günay Ç, Sarıkaya Uzan G, Giray Bozkaya Ö, Çağlayan AO, Hız Kurul S, Yiş U
Acta Neurol Belg 2023 Dec;123(6):2325-2335. Epub 2023 Sep 1 doi: 10.1007/s13760-023-02370-3. PMID: 37656362
Vianello A, Racca F, Vita GL, Pierucci P, Vita G
Handb Clin Neurol 2022;189:259-270. doi: 10.1016/B978-0-323-91532-8.00014-8. PMID: 36031308
Durmus H, Shen XM, Serdaroglu-Oflazer P, Kara B, Parman-Gulsen Y, Ozdemir C, Brengman J, Deymeer F, Engel AG
Neuromuscul Disord 2018 Apr;28(4):315-322. Epub 2017 Nov 28 doi: 10.1016/j.nmd.2017.11.013. PMID: 29395675Free PMC Article
Dusl M, Senderek J, Müller JS, Vogel JG, Pertl A, Stucka R, Lochmüller H, David R, Abicht A
Hum Mol Genet 2015 Jun 15;24(12):3418-26. Epub 2015 Mar 12 doi: 10.1093/hmg/ddv090. PMID: 25765662
Uchitel O, Engel AG, Walls TJ, Nagel A, Atassi MZ, Bril V
Muscle Nerve 1993 Dec;16(12):1293-301. doi: 10.1002/mus.880161205. PMID: 8232384

Clinical prediction guides

Bobadilla-Quesada EJ, Natera-de Benito D, Carrera-García L, Ortez C, Exposito-Escudero J, Jimenez-Mallebrera C, Jou C, Codina A, Corbera J, Moya O, Saez V, Gonzalez-Quereda L, Gallano P, Colomer J, Cuadras D, Medina J, Yoldi ME, Nascimento A
Neuromuscul Disord 2020 Sep;30(9):719-726. Epub 2020 Jul 24 doi: 10.1016/j.nmd.2020.07.009. PMID: 32819792
Brady S, Healy EG, Gang Q, Parton M, Quinlivan R, Jacob S, Curtis E, Al-Sarraj S, Sewry CA, Hanna MG, Houlden H, Beeson D, Holton JL
J Neuropathol Exp Neurol 2016 Dec;75(12):1171-1178. doi: 10.1093/jnen/nlw096. PMID: 27941137
Jensen BS, Willer T, Saade DN, Cox MO, Mozaffar T, Scavina M, Stefans VA, Winder TL, Campbell KP, Moore SA, Mathews KD
Hum Mutat 2015 Dec;36(12):1159-63. Epub 2015 Sep 23 doi: 10.1002/humu.22898. PMID: 26310427Free PMC Article
Vrinten C, van der Zwaag AM, Weinreich SS, Scholten RJ, Verschuuren JJ
Cochrane Database Syst Rev 2014 Dec 17;2014(12):CD010028. doi: 10.1002/14651858.CD010028.pub2. PMID: 25515947Free PMC Article
Engel AG
Curr Neurol Neurosci Rep 2012 Feb;12(1):92-101. doi: 10.1007/s11910-011-0234-7. PMID: 21997714Free PMC Article

Recent systematic reviews

Dostalova T, Havlovicova M, Timkova S, Filipova D, Eliasova H, Batkova M, Liskova P, Macek M
Bratisl Lek Listy 2024;125(12):807-812. doi: 10.4149/BLL_2024_124. PMID: 39629652
Vrinten C, van der Zwaag AM, Weinreich SS, Scholten RJ, Verschuuren JJ
Cochrane Database Syst Rev 2014 Dec 17;2014(12):CD010028. doi: 10.1002/14651858.CD010028.pub2. PMID: 25515947Free PMC Article

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