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Slow channel syndrome

MedGen UID:
581680
•Concept ID:
C0393934
•
Disease or Syndrome
SNOMED CT: Slow channel syndrome (230675008)

Professional guidelines

PubMed

Salbutamol as effective treatment in slow-channel syndrome- first report.
Santovito LS, Brugnoni R, Banfi P, Maggi L
Neurol Sci 2021 Apr;42(4):1611-1612. Epub 2020 Oct 28 doi: 10.1007/s10072-020-04855-y. PMID: 33118062
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

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
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 genetic characterization of an Italian family with slow-channel syndrome.
Angelini C, Lispi L, Salvoro C, Mostacciuolo ML, Vazza G
Neurol Sci 2019 Mar;40(3):503-507. Epub 2018 Dec 12 doi: 10.1007/s10072-018-3645-2. PMID: 30542963
Molecular characterization of congenital myasthenic syndromes in Spain.
Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez C, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho A, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H, Nascimento A
Neuromuscul Disord 2017 Dec;27(12):1087-1098. Epub 2017 Aug 18 doi: 10.1016/j.nmd.2017.08.003. PMID: 29054425
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

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
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 genetic characterization of an Italian family with slow-channel syndrome.
Angelini C, Lispi L, Salvoro C, Mostacciuolo ML, Vazza G
Neurol Sci 2019 Mar;40(3):503-507. Epub 2018 Dec 12 doi: 10.1007/s10072-018-3645-2. PMID: 30542963
Molecular characterization of congenital myasthenic syndromes in Spain.
Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez C, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho A, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H, Nascimento A
Neuromuscul Disord 2017 Dec;27(12):1087-1098. Epub 2017 Aug 18 doi: 10.1016/j.nmd.2017.08.003. PMID: 29054425
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

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
Transgenic mouse model reveals an unsuspected role of the acetylcholine receptor in statin-induced neuromuscular adverse drug reactions.
Grajales-Reyes GE, Báez-Pagán CA, Zhu H, Grajales-Reyes JG, Delgado-Vélez M, García-Beltrán WF, Luciano CA, Quesada O, Ramírez R, Gómez CM, Lasalde-Dominicci JA
Pharmacogenomics J 2013 Aug;13(4):362-8. Epub 2012 Jun 12 doi: 10.1038/tpj.2012.21. PMID: 22688219Free PMC Article
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.
Liewluck T, Selcen D, Engel AG
Muscle Nerve 2011 Nov;44(5):789-94. Epub 2011 Sep 23 doi: 10.1002/mus.22176. PMID: 21952943Free PMC Article
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
Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine.
Colomer J, Müller JS, Vernet A, Nascimento A, Pons M, Gonzalez V, Abicht A, Lochmüller H
Neuromuscul Disord 2006 May;16(5):329-33. Epub 2006 Apr 18 doi: 10.1016/j.nmd.2006.02.009. PMID: 16621558

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
Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.
Shen XM, Okuno T, Milone M, Otsuka K, Takahashi K, Komaki H, Giles E, Ohno K, Engel AG
Hum Mutat 2016 Oct;37(10):1051-9. Epub 2016 Aug 21 doi: 10.1002/humu.23043. PMID: 27375219Free PMC Article
Decremental response to high-frequency trains of acetylcholine pulses but unaltered fractional Ca2+ currents in a panel of "slow-channel syndrome" nicotinic receptor mutants.
Elenes S, Decker M, Cymes GD, Grosman C
J Gen Physiol 2009 Feb;133(2):151-69. doi: 10.1085/jgp.200810089. PMID: 19171769Free PMC Article
A transgenic mouse model of the slow-channel syndrome.
Gomez CM, Bhattacharyya BB, Charnet P, Day JW, Labarca C, Wollmann RL, Lambert EH
Muscle Nerve 1996 Jan;19(1):79-87. doi: 10.1002/(SICI)1097-4598(199601)19:1<79::AID-MUS11>3.0.CO;2-Z. PMID: 8538674

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
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
Motor endplate remodeling in some cases with congenital myasthenic syndrome.
Fidziańska A, Glinka Z
Folia Neuropathol 2010;48(3):200-5. PMID: 20925004
A transgenic mouse model of the slow-channel syndrome.
Gomez CM, Bhattacharyya BB, Charnet P, Day JW, Labarca C, Wollmann RL, Lambert EH
Muscle Nerve 1996 Jan;19(1):79-87. doi: 10.1002/(SICI)1097-4598(199601)19:1<79::AID-MUS11>3.0.CO;2-Z. PMID: 8538674

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