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01.03.2019 | Review Article

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

verfasst von: Lorenzo Maggi, Pia Bernasconi, Adele D’Amico, Raffaella Brugnoni, Chiara Fiorillo, Matteo Garibaldi, Guja Astrea, Claudio Bruno, Filippo Maria Santorelli, Rocco Liguori, Giovanni Antonini, Amelia Evoli, Enrico Bertini, Carmelo Rodolico, Renato Mantegazza

Erschienen in: Neurological Sciences | Ausgabe 3/2019

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Abstract

Congenital myasthenic syndromes (CMS) are genetic disorders due to mutations in genes encoding proteins involved in the neuromuscular junction structure and function. CMS usually present in young children, but perinatal and adult onset has been reported. Clinical presentation is highly heterogeneous, ranging from mild symptoms to severe manifestations, sometimes with life-threatening respiratory episodes, especially in the first decade of life. Although considered rare, CMS are probably underestimated due to diagnostic difficulties. Because of the several therapeutic opportunities, CMS should be always considered in the differential diagnosis of neuromuscular disorders. The Italian Network on CMS proposes here recommendations for proper CMS diagnosis and management, aiming to guide clinicians in their practical approach to CMS patients.

Finlayson S, Beeson D, Palace J (2013) Congenital myasthenic syndromes: an update. Pract Neurol 13:80–91CrossRefPubMed

Engel AG, Shen XM, Selcen D, Sine SM (2015) Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol 14:461CrossRefPubMed

Claeys KG, Maisonobe T, Bohm J, Laporte J, Hezode M, Romero NB et al (2010) Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation. Neurology 74:519021CrossRef

Robb SA, Sewry CA, Dowling JJ, Feng L, Cullup T, Lillis S et al (2011) Impaired neuromuscular transmission and response to aceylcholinesterase inhibitors in centronuclear myopathy. Neuromuscul Disord 21:379186CrossRef

Liewluck T, Shen X-M, Milone M, Engel AG (2011) Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia. Neuromuscul Disord 21:387195

Gibbs EM, Clarke NF, Rose K, Oates EC, Webster R, Feldman EL et al (2013) Neuromuscular junction abnrormalities in DNM2-related centronuclear myopathy. J Mol Med (Berl) 91:727337CrossRef

Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, Harper CM, Cannon SC, Engel AG (2003) Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A 100:7377–7382CrossRefPubMedPubMedCentral

Arnold WD, Feldman DH, Ramirez S, He L, Kassar D, Quick A, Klassen TL, Lara M, Nguyen J, Kissel JT, Lossin C, Maselli RA (2015) Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome. Ann Neurol 77:840–850CrossRefPubMedPubMedCentral

Belaya K, Rodriguez Cruz PM, Liu WW, Maxwell S, McGowan S, Farrugia ME et al (2015) Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain 138:2493–2504CrossRefPubMedPubMedCentral

10.

Garg N, Yiannikas C, Hardy TA, Belaya K, Cheung J, Beeson D, Reddel SW (2016) Late presentations of congenital myasthenic syndromes: how many do we miss? Muscle Nerve 54:721–727CrossRefPubMed

11.

Parr JR, Andrew MJ, Finnis M, Beeson D, Vincent A, Jayawant S (2014) How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia. Arch Dis Child 99:539–542CrossRefPubMed

12.

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 (2017) Molecular characterization of congenital myasthenic syndromes in Spain. Neuromuscul Disord 27:1087–1098CrossRefPubMed

13.

Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, Schmidt C, Abicht A, Lochmüller H, Tordai A, Kalmár L, Nagy M, Karcagi V, Jeanpierre M, Herczegfalvi A, Beeson D, Venkataraman V, Warwick Carter K, Reeve J, de Pablo R, Kučinskas V, Kalaydjieva L (2004) Mutation history of the Roma/gypsies. Am J Hum Genet 75:596–609CrossRefPubMedPubMedCentral

14.

Beeson D, Hantai D, Lochmuller H, Engel AG (2005) 126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands. Neuromuscul Disord 15:498–512CrossRefPubMed

15.

Engel AG (2018) Congenital myasthenic syndromes in 2018. Curr Neurol Neurosci Rep 18:46CrossRefPubMed

16.

Abicht A, Dusl M, Gallenmuller C, Guergueltcheva V, Schara U, Della Marina A et al (2012) Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat 33:1474–1484CrossRefPubMed

17.

Eymard B, Stojkovic T, Sternberg D, Richard P, Nicole S, Fournier E, Béhin A, Laforêt P, Servais L, Romero N, Fardeau M, Hantaï D, Membres du réseau national Syndromes Myasthéniques Congénitaux (2013) Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy—the French National Congenital Myasthenic Syndrome Network experience. Rev Neurol (Paris) 169:S45–S55CrossRef

18.

Guergueltcheva V, Muller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C et al (2012) Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. J Neurol 259:838–850CrossRefPubMed

19.

Chaouch A, Muller JS, Guergueltcheva V, Dusl M, Schara U, Rakocevic-Stojanovic V et al (2012) A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. J Neurol 259:474–481CrossRefPubMed

20.

Selcen D, Shen XM, Milone M, Brengman J, Ohno K, Deymeer F, Finkel R, Rowin J, Engel AG (2013) GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity. Neurology 81:370–378CrossRefPubMedPubMedCentral

21.

Rodriguez Cruz PM, Belaya K, Basiri K, Sedghi M, Farrugia ME, Holton JL et al (2016) Clinical features of the myasthenic syndrome arising from mutations in GMPPB. J Neurol Neurosurg Psychiatry 87:802–809CrossRefPubMedPubMedCentral

22.

Owen D, Topf A, Preethish-Kumar V, Lorenzoni PJ, Vroling B, scola RH et al (2018) Recessive variants of MuSK are associated with late onset CMS and predominant limb-girdle weakness. Am J Med Genet A 176:1594–1601CrossRefPubMed

23.

Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH et al (2006) Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet 79:303–312CrossRefPubMedPubMedCentral

24.

Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER (2008) Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Am J Hum Genet 82:222–227CrossRefPubMedPubMedCentral

25.

Vogt J, Morgan NV, Marton T, Maxwell S, Harrison BJ, Beeson D, Maher ER (2009) Germline mutation in DOK7 associated with fetal akinesia deformation sequence. J Med Genet 46:338–340CrossRefPubMed

26.

Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K (2008) Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet 82:464–476CrossRefPubMedPubMedCentral

27.

Milone M, Shen XM, Selcen D, Ohno K, Brengman J, Iannacone ST et al (2009) Myasthenic syndrome due to defects in rapsyn: clinical and molecular findings in 39 patients. Neurology 73:228–235CrossRefPubMedPubMedCentral

28.

Schara U, Christen HJ, Durmus H, Hietala M, Krabetz K, Rodolico C, Schreiber G, Topaloglu H, Talim B, Voss W, Pihko H, Abicht A, Müller JS, Lochmüller H (2010) Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations. Eur J Paediatr Neurol 14:326–333CrossRefPubMed

29.

Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauchè S, Rouche A et al (2010) Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. J Neurol 257:754–766CrossRefPubMed

30.

Ohno K (2013) Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes. J Neurol Neurosurg Psychiatry 84:1064CrossRefPubMed

31.

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 (2008) Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol 201-202:6–12CrossRefPubMed

32.

Mihaylova V, Muller JS, Vilchez JJ, Salih MA, Kabiraj MM, D’Amico A et al (2008) Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain 131:747–759CrossRefPubMed

33.

Nicole S, Chaouch A, Torbergsen T, Bauche S, de Bruyckere E, Fontenille MJ et al (2014) Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. Brain 137:2429–2443CrossRefPubMed

34.

McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmuller H (2018) Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients. J Neurol 265:194–203CrossRefPubMed

35.

Robb SA, Muntoni F, Simonds AK (2010) Respiratory management of congenital myasthenic syndromes in childhood: workshop 8th December 2009, UCL Institute of Neurology, London, UK. Neuromuscul Disord 20:833–838CrossRefPubMed

36.

Palace J, Lashley D, Bailey S, Jayawant S, Carr A, McConville J, Robb S, Beeson D (2012) Clinical features in a series of fast channel congenital myasthenia syndrome. Neuromuscul Disord 22:112–117CrossRefPubMed

37.

Brueton LA, Huson SM, Cox PM, Shirley I, Thompson EM, Barnes PR et al (2000) Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype. Am J Med Genet 92:1–6CrossRefPubMed

38.

Kosac A, Gavillet E, Whittaker RG (2013) Neurophysiological testing in congenital myasthenic syndromes: a systematic review of published normal data. Muscle Nerve 48:711–715CrossRef

39.

Benatar M (2006) A systematic review of diagnostic studies in myasthenia gravis. Neuromuscul Disord 16:459–467CrossRefPubMed

40.

Howard JF Jr (2013) Electrodiagnosis of disorders of neuromuscular transmission. Phys Med Rehabil Clin N Am 24:169–192CrossRefPubMed

41.

Nicole S, Azuma Y, Bauche S, Eymard B, Lochmuller H, Slater C (2017) Congenital myasthenic syndromes or inherited disorders of neuromuscular transmission: recent discoveries and open questions. J Neuromuscul Dis 4:269–284CrossRefPubMedPubMedCentral

42.

Pascuzzi RM (2003) The edrophonium test. Semin Neurol 23:83–88CrossRefPubMed

43.

Finlayson S, Morrow JM, Rodriguez Cruz PM, Sinclair CD, Fischmann A, Thornton JS et al (2016) Muscle magnetic resonance in congenital myastenic syndromes. Muscle Nerve 54:211–219CrossRefPubMedPubMedCentral

44.

Lindquist S, Stangel M (2011) Update on treatment options for Lambert–Eaton myasthenic syndrome: focus on use of amifampridine. Neuropsychiatr Dis Treat 7:341–349PubMedPubMedCentral

45.

Lashley D, Palace J, Jayawant S, Robb S, Beeson D (2010) Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7. Neurology 74:1517–1523CrossRefPubMedPubMedCentral

46.

Liewluck T, Selcen D, Engel AG (2011) Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. Muscle Nerve 44:789–794CrossRefPubMedPubMedCentral

47.

Burke G, Hiscock A, Klein A, Niks EH, Main M, Manzur AY, Ng J, de Vile C, Muntoni F, Beeson D, Robb S (2013) Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscul Disord 23:170–175CrossRefPubMed

48.

Rodriguez Cruz PM, Palace J, Ramjattan H, Jayawant S, Robb SA, Beeson D (2015) Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes. Neurology 85:1043–1047CrossRefPubMedPubMedCentral

49.

Lee M, Beeson D, Palace J (2018) Therapeutic strategies for congenital myasthenic syndromes. Ann N Y Acad Sci 1412:129–136CrossRefPubMed

50.

Finlayson S, Spillane J, Kullmann DM, Howard R, Webster R, Palace J, Beeson D (2013) Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol. Muscle Nerve 47:279–282CrossRefPubMed

51.

Servais L, Baudoin H, Zehrouni K, Richard P, Sternberg D, Fournier E, Eymard B, Stojkovic T (2013) Pregnancy in congenital myasthenic syndrome. J Neurol 260:815–819CrossRefPubMed

52.

Esposito S, Bruno C, Berardinelli A, Filosto M, Mongini T, Morandi L, Musumeci O, Pegoraro E, Siciliano G, Tonin P, Marrosu G, Minetti C, Servida M, Fiorillo C, Conforti G, Scapolan S, Ansaldi F, Vianello A, Castaldi S, Principi N, Toscano A, Moggio M (2014) Vaccination recommendations for patients with neuromuscular disease. Vaccine 32:5893–5900CrossRefPubMed

53.

Ishigaki K, Nicolle D, Krejci E, Leroy JP, Koenig J, Fardeau M, Eymard B, Hantaı̈ D (2003) Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency. Neuromuscul Disord 13:236–244CrossRefPubMed

Titel: Italian recommendations for diagnosis and management of congenital myasthenic syndromes
verfasst von: Lorenzo Maggi
Pia Bernasconi
Adele D’Amico
Raffaella Brugnoni
Chiara Fiorillo
Matteo Garibaldi
Guja Astrea
Claudio Bruno
Filippo Maria Santorelli
Rocco Liguori
Giovanni Antonini
Amelia Evoli
Enrico Bertini
Carmelo Rodolico
Renato Mantegazza
Publikationsdatum: 01.03.2019
Verlag: Springer International Publishing
Erschienen in: Neurological Sciences / Ausgabe 3/2019
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-018-3682-x

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Italian recommendations for diagnosis and management of congenital myasthenic syndromes

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