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Myasthenic syndrome, slow-channel congenital(CMS1A)

MedGen UID:
199759
•Concept ID:
C0751885
•
Disease or Syndrome
Synonyms: CMS1A; Myasthenic syndrome, congenital, postsynaptic slow-channel; Myasthenic Syndromes, Congenital, Slow Channel; Slow-Channel Congenital Myasthenia Syndrome

Authors:
Angela Abicht  |  Juliane S Müller  |  Hanns Lochmüller   view full author information

Professional guidelines

PubMed

Treatment of slow-channel congenital myasthenic syndrome in a Thai family with fluoxetine.
Dejthevaporn C, Wetchaphanphesat S, Pulkes T, Rattanasiri S, Engel AG, Witoonpanich R
J Clin Neurosci 2022 Feb;96:85-89. Epub 2022 Jan 6 doi: 10.1016/j.jocn.2021.12.016. PMID: 34999496
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.
Chaouch A, Müller JS, Guergueltcheva V, Dusl M, Schara U, Rakocević-Stojanović V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmüller H
J Neurol 2012 Mar;259(3):474-81. Epub 2011 Aug 7 doi: 10.1007/s00415-011-6204-9. PMID: 21822932
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine.
Harper CM, Fukodome T, Engel AG
Neurology 2003 May 27;60(10):1710-3. doi: 10.1212/01.wnl.0000061483.11417.1b. PMID: 12771277

Recent clinical studies

Etiology

Pregnancy outcomes in patients with congenital myasthenic syndromes.
O'Connell K, Rooney T, Alabaf S, Ramdas S, Beeson D, Palace J
Muscle Nerve 2022 Sep;66(3):345-348. Epub 2022 Jun 24 doi: 10.1002/mus.27653. PMID: 35661384
Treatment of slow-channel congenital myasthenic syndrome in a Thai family with fluoxetine.
Dejthevaporn C, Wetchaphanphesat S, Pulkes T, Rattanasiri S, Engel AG, Witoonpanich R
J Clin Neurosci 2022 Feb;96:85-89. Epub 2022 Jan 6 doi: 10.1016/j.jocn.2021.12.016. PMID: 34999496
Pregnancy in congenital myasthenic syndrome.
Servais L, Baudoin H, Zehrouni K, Richard P, Sternberg D, Fournier E, Eymard B, Stojkovic T
J Neurol 2013 Mar;260(3):815-9. Epub 2012 Oct 30 doi: 10.1007/s00415-012-6709-x. PMID: 23108489
Congenital myasthenic syndromes.
Hantaï D, Richard P, Koenig J, Eymard B
Curr Opin Neurol 2004 Oct;17(5):539-51. doi: 10.1097/00019052-200410000-00004. PMID: 15367858
Congenital myasthenic syndromes.
Sieb JP, Kraner S, Steinlein OK
Semin Pediatr Neurol 2002 Jun;9(2):108-19. doi: 10.1053/spen.2002.33803. PMID: 12138995

Diagnosis

Congenital myasthenic syndromes.
Beeson D
Handb Clin Neurol 2024;203:69-88. doi: 10.1016/B978-0-323-90820-7.00013-6. PMID: 39174255
Pregnancy outcomes in patients with congenital myasthenic syndromes.
O'Connell K, Rooney T, Alabaf S, Ramdas S, Beeson D, Palace J
Muscle Nerve 2022 Sep;66(3):345-348. Epub 2022 Jun 24 doi: 10.1002/mus.27653. PMID: 35661384
Congenital myasthenic syndromes.
Hantaï D, Richard P, Koenig J, Eymard B
Curr Opin Neurol 2004 Oct;17(5):539-51. doi: 10.1097/00019052-200410000-00004. PMID: 15367858
Congenital myasthenic syndromes.
Harper CM
Semin Neurol 2004 Mar;24(1):111-23. doi: 10.1055/s-2004-829592. PMID: 15229798
Congenital myasthenic syndromes.
Sieb JP, Kraner S, Steinlein OK
Semin Pediatr Neurol 2002 Jun;9(2):108-19. doi: 10.1053/spen.2002.33803. PMID: 12138995

Therapy

Treatment of slow-channel congenital myasthenic syndrome in a Thai family with fluoxetine.
Dejthevaporn C, Wetchaphanphesat S, Pulkes T, Rattanasiri S, Engel AG, Witoonpanich R
J Clin Neurosci 2022 Feb;96:85-89. Epub 2022 Jan 6 doi: 10.1016/j.jocn.2021.12.016. PMID: 34999496
Rapsyn congenital myasthenic syndrome worsened by fluoxetine.
Visser AC, Laughlin RS, Litchy WJ, Benarroch EE, Milone M
Muscle Nerve 2017 Jan;55(1):131-135. Epub 2016 Aug 10 doi: 10.1002/mus.25244. PMID: 27397848
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.
Chaouch A, Müller JS, Guergueltcheva V, Dusl M, Schara U, Rakocević-Stojanović V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmüller H
J Neurol 2012 Mar;259(3):474-81. Epub 2011 Aug 7 doi: 10.1007/s00415-011-6204-9. PMID: 21822932
Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA
J Neuroimmunol 2008 Sep 15;201-202:6-12. Epub 2008 Aug 15 doi: 10.1016/j.jneuroim.2008.06.026. PMID: 18707767
Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome.
Harper CM, Engel AG
Ann Neurol 1998 Apr;43(4):480-4. doi: 10.1002/ana.410430411. PMID: 9546329

Prognosis

Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases.
Boon HTM, Jacobs B, Wouter VR, Kamsteeg EJ, Kuks JBM, Vincent A, Eymard B, Voermans NC
J Neuromuscul Dis 2022;9(4):525-532. doi: 10.3233/JND-220798. PMID: 35466948
Pregnancy in congenital myasthenic syndrome.
Servais L, Baudoin H, Zehrouni K, Richard P, Sternberg D, Fournier E, Eymard B, Stojkovic T
J Neurol 2013 Mar;260(3):815-9. Epub 2012 Oct 30 doi: 10.1007/s00415-012-6709-x. PMID: 23108489
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.
Chaouch A, Müller JS, Guergueltcheva V, Dusl M, Schara U, Rakocević-Stojanović V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmüller H
J Neurol 2012 Mar;259(3):474-81. Epub 2011 Aug 7 doi: 10.1007/s00415-011-6204-9. PMID: 21822932
Congenital myasthenic syndromes.
Hantaï D, Richard P, Koenig J, Eymard B
Curr Opin Neurol 2004 Oct;17(5):539-51. doi: 10.1097/00019052-200410000-00004. PMID: 15367858
Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.
Milone M, Wang HL, Ohno K, Fukudome T, Pruitt JN, Bren N, Sine SM, Engel AG
J Neurosci 1997 Aug 1;17(15):5651-65. doi: 10.1523/JNEUROSCI.17-15-05651.1997. PMID: 9221765Free PMC Article

Clinical prediction guides

Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases.
Boon HTM, Jacobs B, Wouter VR, Kamsteeg EJ, Kuks JBM, Vincent A, Eymard B, Voermans NC
J Neuromuscul Dis 2022;9(4):525-532. doi: 10.3233/JND-220798. PMID: 35466948
Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome.
Eirís-Puñal J, Fuentes-Pita P, Gómez-Lado C, Pérez-Gay L, López-Vázquez A, Quintas-Rey R, Barros-Angueira F, Pardo J
Rev Neurol 2020 Sep 16;71(6):221-224. doi: 10.33588/rn.7106.2020265. PMID: 32895905
Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits.
Azuma Y, Nakata T, Tanaka M, Shen XM, Ito M, Iwata S, Okuno T, Nomura Y, Ando N, Ishigaki K, Ohkawara B, Masuda A, Natsume J, Kojima S, Sokabe M, Ohno K
Neuromuscul Disord 2015 Jan;25(1):60-9. Epub 2014 Sep 10 doi: 10.1016/j.nmd.2014.09.002. PMID: 25264167
Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.
Finlayson S, Spillane J, Kullmann DM, Howard R, Webster R, Palace J, Beeson D
Muscle Nerve 2013 Feb;47(2):279-82. Epub 2012 Dec 28 doi: 10.1002/mus.23534. PMID: 23281026
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine.
Harper CM, Fukodome T, Engel AG
Neurology 2003 May 27;60(10):1710-3. doi: 10.1212/01.wnl.0000061483.11417.1b. PMID: 12771277

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