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Myasthenia, Familial Infantile, 1

MedGen UID:
344169
•Concept ID:
C1853949
•
Disease or Syndrome
Synonym: Congenital Myasthenic Syndrome Type Ia1

Recent clinical studies

Etiology

Unexpected dislocation following accurate total hip arthroplasty caused by excessive hip joint laxity during myasthenic crisis: a case report.
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
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H
J Neurol 2018 Jan;265(1):194-203. Epub 2017 Nov 30 doi: 10.1007/s00415-017-8689-3. PMID: 29189923Free PMC Article
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S
Am J Hum Genet 2016 Sep 1;99(3):753-761. Epub 2016 Aug 25 doi: 10.1016/j.ajhg.2016.06.033. PMID: 27569547Free PMC Article

Diagnosis

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H
J Neurol 2018 Jan;265(1):194-203. Epub 2017 Nov 30 doi: 10.1007/s00415-017-8689-3. PMID: 29189923Free PMC Article
Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis.
Dilena R, Abicht A, Sergi P, Comi GP, Di Fonzo A, Chidini G, Natacci F, Barbieri S, Lochmüller H
J Child Neurol 2014 Mar;29(3):389-93. Epub 2013 Jan 4 doi: 10.1177/0883073812470000. PMID: 23292760
Congenital myasthenic syndrome with episodic apnea.
Mallory LA, Shaw JG, Burgess SL, Estrella E, Nurko S, Burpee TM, Agus MS, Darras BT, Kunkel LM, Kang PB
Pediatr Neurol 2009 Jul;41(1):42-5. doi: 10.1016/j.pediatrneurol.2009.02.017. PMID: 19520274Free PMC Article

Therapy

Unexpected dislocation following accurate total hip arthroplasty caused by excessive hip joint laxity during myasthenic crisis: a case report.
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
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H
J Neurol 2018 Jan;265(1):194-203. Epub 2017 Nov 30 doi: 10.1007/s00415-017-8689-3. PMID: 29189923Free PMC Article
Congenital myasthenic syndrome with episodic apnea.
Mallory LA, Shaw JG, Burgess SL, Estrella E, Nurko S, Burpee TM, Agus MS, Darras BT, Kunkel LM, Kang PB
Pediatr Neurol 2009 Jul;41(1):42-5. doi: 10.1016/j.pediatrneurol.2009.02.017. PMID: 19520274Free PMC Article

Prognosis

Unexpected dislocation following accurate total hip arthroplasty caused by excessive hip joint laxity during myasthenic crisis: a case report.
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
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S
Am J Hum Genet 2016 Sep 1;99(3):753-761. Epub 2016 Aug 25 doi: 10.1016/j.ajhg.2016.06.033. PMID: 27569547Free PMC Article
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants.
Barisic N, Müller JS, Paucic-Kirincic E, Gazdik M, Lah-Tomulic K, Pertl A, Sertic J, Zurak N, Lochmüller H, Abicht A
Eur J Paediatr Neurol 2005;9(1):7-12. Epub 2004 Dec 13 doi: 10.1016/j.ejpn.2004.10.008. PMID: 15701560

Clinical prediction guides

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H
J Neurol 2018 Jan;265(1):194-203. Epub 2017 Nov 30 doi: 10.1007/s00415-017-8689-3. PMID: 29189923Free PMC Article
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S
Am J Hum Genet 2016 Sep 1;99(3):753-761. Epub 2016 Aug 25 doi: 10.1016/j.ajhg.2016.06.033. PMID: 27569547Free PMC Article
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants.
Barisic N, Müller JS, Paucic-Kirincic E, Gazdik M, Lah-Tomulic K, Pertl A, Sertic J, Zurak N, Lochmüller H, Abicht A
Eur J Paediatr Neurol 2005;9(1):7-12. Epub 2004 Dec 13 doi: 10.1016/j.ejpn.2004.10.008. PMID: 15701560

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