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Congenital myasthenic syndrome 13(CMS13)

MedGen UID:
766559
Concept ID:
C3553645
Disease or Syndrome
Synonyms: CMS13; Myasthenic syndrome, congenital, 13, with tubular aggregates; Myasthenic syndrome, congenital, with tubular aggregates 2
 
Gene (location): DPAGT1 (11q23.3)
 
Monarch Initiative: MONDO:0013883
OMIM®: 614750

Definition

Congenital myasthenic syndrome-13 (CMS13) 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 Belaya et al., 2012). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

Clinical features

From HPO
Fatigable weakness
MedGen UID:
451076
Concept ID:
C0947912
Disease or Syndrome
A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Proximal muscle weakness
MedGen UID:
113169
Concept ID:
C0221629
Finding
A lack of strength of the proximal muscles.
Muscle fiber tubular inclusions
MedGen UID:
866677
Concept ID:
C4021024
Anatomical Abnormality
Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities.
Increased jitter at single fiber EMG
MedGen UID:
866698
Concept ID:
C4021045
Finding
The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG).
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
MedGen UID:
892749
Concept ID:
C4021728
Finding
A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

Professional guidelines

PubMed

Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network
Orphanet J Rare Dis 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x. PMID: 30257713Free PMC Article
Witting N, Vissing J
JAMA Neurol 2014 Mar;71(3):350-4. doi: 10.1001/jamaneurol.2013.5590. PMID: 24425145

Recent clinical studies

Etiology

Masingue M, Cattaneo O, Wolff N, Buon C, Sternberg D, Euchparmakian M, Boex M, Behin A, Mamchaouhi K, Maisonobe T, Nougues MC, Isapof A, Fontaine B, Messéant J, Eymard B, Strochlic L, Bauché S
Sci Rep 2023 Aug 28;13(1):14054. doi: 10.1038/s41598-023-41008-5. PMID: 37640745Free PMC Article
Krenn M, Sener M, Rath J, Zulehner G, Keritam O, Wagner M, Laccone F, Iglseder S, Marte S, Baumgartner M, Eisenkölbl A, Liechtenstein C, Rudnik S, Quasthoff S, Grinzinger S, Spenger J, Wortmann SB, Löscher WN, Zimprich F, Kellersmann A, Rappold M, Bernert G, Freilinger M, Cetin H
J Neurol 2023 Feb;270(2):909-916. Epub 2022 Oct 29 doi: 10.1007/s00415-022-11440-0. PMID: 36308527Free PMC Article
Yoganathan K, Stevenson A, Tahir A, Sadler R, Radunovic A, Malek N
J Neurol 2022 Jun;269(6):3372-3384. Epub 2022 Feb 10 doi: 10.1007/s00415-022-10986-3. PMID: 35142871Free PMC Article
Topaloudi A, Zagoriti Z, Flint AC, Martinez MB, Yang Z, Tsetsos F, Christou YP, Lagoumintzis G, Yannaki E, Zamba-Papanicolaou E, Tzartos J, Tsekmekidou X, Kotsa K, Maltezos E, Papanas N, Papazoglou D, Passadakis P, Roumeliotis A, Roumeliotis S, Theodoridis M, Thodis E, Panagoutsos S, Yovos J, Stamatoyannopoulos J, Poulas K, Kleopa K, Tzartos S, Georgitsi M, Paschou P
J Med Genet 2022 Aug;59(8):801-809. Epub 2021 Aug 16 doi: 10.1136/jmedgenet-2021-107953. PMID: 34400559
Mansukhani SA, Bothun ED, Diehl NN, Mohney BG
Am J Ophthalmol 2019 Apr;200:242-249. Epub 2019 Jan 14 doi: 10.1016/j.ajo.2019.01.004. PMID: 30653958Free PMC Article

Diagnosis

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
Yoganathan K, Stevenson A, Tahir A, Sadler R, Radunovic A, Malek N
J Neurol 2022 Jun;269(6):3372-3384. Epub 2022 Feb 10 doi: 10.1007/s00415-022-10986-3. PMID: 35142871Free PMC Article
Zhao Y, Li Y, Bian Y, Yao S, Liu P, Yu M, Zhang W, Wang Z, Yuan Y
Ann Clin Transl Neurol 2021 Apr;8(4):898-907. Epub 2021 Mar 23 doi: 10.1002/acn3.51346. PMID: 33756069Free PMC Article
de Meel RHP, Keene KR, Wirth MA, Weber KP, Badrising UA, Verschuuren JJ, Tannemaat MR
Neurology 2020 Apr 21;94(16):e1693-e1701. Epub 2020 Mar 26 doi: 10.1212/WNL.0000000000009306. PMID: 32217778
Mansukhani SA, Bothun ED, Diehl NN, Mohney BG
Am J Ophthalmol 2019 Apr;200:242-249. Epub 2019 Jan 14 doi: 10.1016/j.ajo.2019.01.004. PMID: 30653958Free PMC Article

Therapy

Hesami O, Ramezani M, Ghasemi A, Fatehi F, Okhovat AA, Ziaadini B, Kariminejad A, Nafissi S
Orphanet J Rare Dis 2024 Mar 12;19(1):113. doi: 10.1186/s13023-024-03116-x. PMID: 38475910Free PMC Article
Murotani Y, Kuroda Y, Goto K, Kawai T, Matsuda S
J Med Case Rep 2018 Nov 6;12(1):331. doi: 10.1186/s13256-018-1886-6. PMID: 30396362Free PMC Article
Maselli RA, Arredondo J, Nguyen J, Lara M, Ng F, Ngo M, Pham JM, Yi Q, Stajich JM, McDonald K, Hauser MA, Wollmann RL
Clin Genet 2014 Feb;85(2):166-71. Epub 2013 Mar 11 doi: 10.1111/cge.12118. PMID: 23488891
Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H
Brain 2007 Jun;130(Pt 6):1497-506. Epub 2007 Apr 17 doi: 10.1093/brain/awm068. PMID: 17439981
Müller JS, Baumeister SK, Rasic VM, Krause S, Todorovic S, Kugler K, Müller-Felber W, Abicht A, Lochmüller H
Neurology 2006 Oct 10;67(7):1159-64. Epub 2006 Aug 23 doi: 10.1212/01.wnl.0000233837.79459.40. PMID: 16931511

Prognosis

Kim MJ, Kim SY, Lee JS, Kang S, Park LJ, Choi W, Jung JY, Kim T, Park SS, Ko JM, Seong MW, Chae JH
Ann Lab Med 2023 May 1;43(3):280-289. Epub 2022 Dec 22 doi: 10.3343/alm.2023.43.3.280. PMID: 36544340Free PMC Article
Zhao Y, Li Y, Bian Y, Yao S, Liu P, Yu M, Zhang W, Wang Z, Yuan Y
Ann Clin Transl Neurol 2021 Apr;8(4):898-907. Epub 2021 Mar 23 doi: 10.1002/acn3.51346. PMID: 33756069Free PMC Article
AlTaisan A, Magliyah M, Abouammoh MA, Taskintuna I, Alzahrani Y, Chang E, Alsulaiman SM
Ophthalmic Surg Lasers Imaging Retina 2020 Nov 1;51(11):618-627. doi: 10.3928/23258160-20201104-03. PMID: 33231694
Mansukhani SA, Bothun ED, Diehl NN, Mohney BG
Am J Ophthalmol 2019 Apr;200:242-249. Epub 2019 Jan 14 doi: 10.1016/j.ajo.2019.01.004. PMID: 30653958Free PMC Article
Selcen D, Ohkawara B, Shen XM, McEvoy K, Ohno K, Engel AG
JAMA Neurol 2015 Aug;72(8):889-96. doi: 10.1001/jamaneurol.2015.0853. PMID: 26052878Free PMC Article

Clinical prediction guides

Zhao Y, Li Y, Bian Y, Yao S, Liu P, Yu M, Zhang W, Wang Z, Yuan Y
Ann Clin Transl Neurol 2021 Apr;8(4):898-907. Epub 2021 Mar 23 doi: 10.1002/acn3.51346. PMID: 33756069Free PMC Article
Caggiano S, Khirani S, Verrillo E, Barnerias C, Amaddeo A, Gitiaux C, Thierry B, Desguerre I, Cutrera R, Fauroux B
Eur J Paediatr Neurol 2017 Nov;21(6):842-851. Epub 2017 Jul 21 doi: 10.1016/j.ejpn.2017.07.010. PMID: 28755803
Selcen D, Ohkawara B, Shen XM, McEvoy K, Ohno K, Engel AG
JAMA Neurol 2015 Aug;72(8):889-96. doi: 10.1001/jamaneurol.2015.0853. PMID: 26052878Free PMC Article
Witting N, Vissing J
JAMA Neurol 2014 Mar;71(3):350-4. doi: 10.1001/jamaneurol.2013.5590. PMID: 24425145
Aldunate R, Casar JC, Brandan E, Inestrosa NC
Brain Res Brain Res Rev 2004 Dec;47(1-3):96-104. doi: 10.1016/j.brainresrev.2004.07.019. PMID: 15572165

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