Efedrina para la miastenia grave, la miastenia neonatal y los síndromes miasténicos congénitos
References
References to ongoing studies
Edvardson S, Shapirah Y. Treatment of congenital myasthenia with ephedrine: a case report. European Journal of Paediatric Neurology 2007;11(Suppl 1):38.
Additional references
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Abicht A, Lochmüller H. Congenital Myasthenic Syndromes. GeneReviews at Gene Tests: Medical Genetics Information Resource (database online). Seattle: University of Washington. Available at www.ncbi.nlm.nih.gov/books/NBK1168/, 1993 ‐ 2014. Last revision: June 28, 2012 (accessed 3 December 2014).
Adamovičová M, Fabriciová K, Jakubíková M, Příhodová I, Klement P, Sýkora P, et al. Congenital myasthenia as a cause of respiratory failure in two infants and a toddler: case reports [Kongenitální myastenie jako příčina respiračního selhání u dvou kojenců a batolete: kazuistiky]. Ceska a Slovenska Neurologie a Neurochirurgie 2012;75(6):757‐62.
Anderson JA, Ng JJ, Bowe C, McDonald C, Richman DP, Wollmann RL, et al. Variable phenotypes associated with mutations in DOK7. Muscle & Nerve 2008;37(4):448‐56.
Banwell BL, Ohno K, Sieb JP, Engel AG. Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4‐diaminopyridine. Neuromuscular Disorders 2004;14(3):202‐7.
Barišić N, Chaouch A, Müller JS, Lochmüller H. Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes. European Journal of Paediatric Neurology 2011;15(3):189‐96.
Bauduin H, Servais L, Richard P, Sternberg D, Fournier E, Laforet P, et al. Pregnancy outcome in congenital myasthenic syndromes. Neuromuscular Disorders 2011;21(9‐10):728.
Beeson D, Hantaï D, Lochmüller H, Engel AG. 126th International workshop: congenital myasthenic syndromes, 24‐26 September 2004, Naarden, The Netherlands. Neuromuscular Disorders 2005;15(7):498‐512.
Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauché S, Rouche A, et al. Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. Journal of Neurology 2010;257(5):754‐66.
Bestue‐Cardiel M, Sáenz de Cabezón‐Alvarez A, Capablo‐Liesa JL, López‐Pisón J, Peña‐Segura JL, Martin‐Martinez J, et al. Congenital endplate acetylcholinesterase deficiency responsive to ephedrine. Neurology 2005;65(1):144‐6.
Bestué M, Capablo JL, Sáenz de Cabezón A, López‐Pisón J, Benavente I, Larrodé P, et al. [Mutación Y430S en un grupo de cinco pacientes con miastenia congénita por déficit de acetilcolinesterasa (AChE). Es una mutación fundacional hispánica?]. Comunicacones Orales de la Sociedad Española de Neurología 2006;21(9):455‐550.
Boothby WM. Myasthenia gravis: the effect of treatment with glycine and ephedrine; third report. Archives of Internal Medicine 1934;53(1):39‐45.
Brengman J, Capablo‐Liesa JL, Bestue‐Cardiel M, López‐Pisón J, Peña‐Segura JL, Benavente‐Aguilar I, et al. Ephedrine treatment of seven patients with congenital endplate (EP) acetylcholinesterase (AChE) deficiency. Neuromuscular Disorders 2006;16(Suppl 1):S129.
Burke G, Cossins J, Maxwell S, Robb S, Nicolle M, Vincent A, et al. Distinct phenotypes of congenital acetylcholine receptor deficiency. Neuromuscular Disorders 2004;14(6):356‐64.
Burke G, Allen D, Arunachalam R, Beeson D, Hammans S. A treatable muscle disease. Practical Neurology 2009;9(4):233‐6.
Burke G, Hiscock A, Klein A, Ng J, Manzur AY, De Vile C, et al. Salbutamol treatment in children with DOK7 congenital myasthenic syndrome. European Journal of Paediatric Neurology 2011;15(Suppl 1):S20.
Burke G, Hiscock A, Klein A, Niks EH, Main M, Manzur AY, et al. Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscular disorders 2013;23(2):170‐5.
Cea G, Benatar M, Verdugo RJ, Salinas RA. Thymectomy for non‐thymomatous myasthenia gravis. Cochrane Database of Systematic Reviews 2013, Issue 10. [DOI: 10.1002/14651858.CD008111.pub2]
Chan‐Lui WY, Leung NK, Lau TTY. Myasthenia gravis in Chinese children. Developmental Medicine & Child Neurology 1984;26(6):717‐24.
Chaouch A, Beeson D, Hantaï D, Lochmüller H. 186th ENMC international workshop: congenital myasthenic syndromes 24‐26 June 2011, Naarden, The Netherlands. Neuromuscular Disorders 2012;22(6):566‐76.
Chieza JT, Fleming I, Parry N, Skelton VA. Maternal myasthenia gravis complicated by fetal arthrogryposis multiplex congenita. International Journal of Obstetric Anesthesia 2011;20(1):79‐82.
Chillingworth A, Hicks E, Beeson D, Robb S, Peake D. Variable response to ephedrine in COLQ congenital myasthenic syndrome despite phenotypic and genotypic homogeneity within the same family. Developmental Medicine & Child Neurology 2009;51(Suppl 1):24.
Cossins J, Lashley D, Spearman H, Maxwell S, Palace J, Robb S, et al. Ephedrine treatment in DOK7 CMS and investigation of potential mechanisms. Neuromuscular Disorders 2010;20(Suppl 1):S18.
Csajka C, Haller CA, Benowitz NL, Verotta D. Mechanistic pharmacokinetic modelling of ephedrine, norephedrine and caffeine in healthy subjects. British Journal of Clinical Pharmacology 2005;59(3):335‐45.
Dalkara T, Kansu T, Kayaalp O, Zileli T. Pupillary dysfunction in myasthenia gravis: possible involvement of ciliary ganglion. Hacettepe Medical Journal 1988;21(4):269‐74.
Drug Enforcement Administration, U.S. Department of Justice. Registration requirements for importers and manufacturers of prescription drug products containing ephedrine, pseudoephedrine, or phenylpropanolamine. Federal Register. Document number: 2010‐1968. 2010 Feb. Available from www.federalregister.gov (accessed 3 December 2014). [RIN 1117‐AB09]
Della Marina A, Abicht A, Schara U. Congenital myasthenic syndromes [Kongenitale myasthene Syndrome. Vom Symptom zur Diagnose und Therapie]. Nervenheilkunde 2011;30(10):797‐804.
Djelmis J, Sostarko M, Mayer D, Ivanisevic M. Myasthenia gravis in pregnancy: report on 69 cases. European Journal of Obstetrics Gynecology and Reproductive Biology 2002;104(1):21‐5.
Drachman DB. Myasthenia gravis. New England Journal of Medicine 1994;330(25):1797‐810.
Duran GS, Uzunhan TA, Ekici B, Citak A, Aydinli N, Caliskan M. Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis. Acta Neurologica Belgica 2013;113(4):531‐2. [PUBMED: 23371844 ]
Edgeworth H. A report of progress on the use of ephedrine in a case of myasthenia gravis. Journal of the American Medical Association 1930;94(15):1136.
Edgeworth H. The effect of ephedrine in the treatment of myasthenia gravis: second report. Journal of the American Medical Association 1933;100(18):1401.
Edvardson S, Shapirah Y. Treatment of congenital myasthenia with ephedrine: a case report. European Journal of Paediatric Neurology 2007;11(Suppl 1):38.
Ehler E, Latta J. Myasthenia with positive anti‐MuSK‐positive antibodies in a young man: a case report [Myastenie s pozitivními anti‐MuSK protilátkami u mladého muže: kazuistika]. Ceska a Slovenska Neurologie a Neurochirurgie 2008;71(1):101‐4.
European Medicines Agency. European Public Assessment Report database. Available from: www.ema.europa.eu (accessed 3 December 2014).
Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes: progress over the past decade. Muscle & Nerve 2003;27(1):4‐25.
Engel AG. The therapy of congenital myasthenic syndromes. Neurotherapeutics 2007;4(2):252‐7.
Engel AG, Shen XM, Selcen D, Sine SM. Further observations in congenital myasthenic syndromes. Annals of the New York Academy of Sciences 2008;1132:104‐13.
Engel AG. Current status of the congenital myasthenic syndromes. Neuromuscular Disorders 2012;22(2):99‐111.
Engel AG. Congenital myasthenic syndromes in 2012. Current Neurology and Neuroscience Reports 2012;12(1):92‐101.
Effective Practice, Organisation of Care (EPOC). EPOC Resources for review authors. Oslo: Norwegian Knowledge Centre for the Health Services; 2013. Available at: epocoslo.cochrane.org/epoc‐specific‐resources‐review‐authors (accessed 1 November 2014).
Ernst ME, Hartz A. Phenylpropanolamine and hemorrhagic stroke. New England Journal of Medicine2001; Vol. 344, issue 14:1094‐5.
Evoli A. Acquired myasthenia gravis in childhood. Current Opinion in Neurology 2010;23(5):536‐40.
Eymard B. Congenital myasthenic syndromes. www.orpha.net 2007 (accessed 3 December 2014).
Eymard B, Stojkovic T, Sternberg D, Richard P, Nicole S, Fournier E, et al. Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy. The French National Congenital Myasthenic Syndrome Network experience. [Syndromes myasthéniques congénitaux: difficultés diagnostiques, évolution et pronostic, thérapeutique. L'expérience du réseau national "Syndromes Myasthéniques Congénitaux"]. Revue Neurologique 2013;169(Suppl 1):S45‐55. [PUBMED: 23452772 ]
Felice K, Relva G. Ephedrine in the treatment of congenital myasthenic syndrome. Muscle & Nerve1996; Vol. 19, issue 6:799‐800.
Gajdos P, Chevret S, Toyka KV. Plasma exchange for generalised myasthenia gravis. Cochrane Database of Systematic Reviews 2002, Issue 4. [DOI: 10.1002/14651858.CD002275]
Gajdos P, Chevret S, Toyka KV. Intravenous immunoglobulin for myasthenia gravis. Cochrane Database of Systematic Reviews 2012, Issue 12. [DOI: 10.1002/14651858.CD002277.pub4]
Gallagher JP, Shinnick‐Gallagher P. Ephedrine and neuromuscular transmission, in vivo. Neuropharmacology 1979;18(10):749‐54.
Guven A, Demirci M, Anlar B. Recurrent COLQ mutation in congenital myasthenic syndrome. Pediatric Neurology 2012;46(4):253‐6.
Haller CA, Benowitz NL. Adverse cardiovascular and central nervous system events associated with dietary supplements containing ephedra alkaloids. New England Journal of Medicine 2000;343(25):1833‐8.
Hantai D, Nicole S, Eymard B. Congenital myasthenic syndromes: an update. Current Opinion in Neurology 2013;26(5):561‐8. [PUBMED: 23995276]
Haran M, Schattner A, Mate A, Starobin D, Haran G, Shtalrid M. Can a rare form of myasthenia gravis shed additional light on disease mechanisms?. Clinical Neurology and Neurosurgery 2013;115(5):562‐6.
Hart IK, Sathasivam S, Sharshar T. Immunosuppressive agents for myasthenia gravis. Cochrane Database of Systematic Reviews 2007, Issue 4. [DOI: 10.1002/14651858.CD005224.pub2]
Hashimoto A, Hanada M, Okada S, Aoki N. A case report of myasthenia gravis associated with Hashimoto's thyroiditis. Folia Psychiatrica et Neurologica Japonica 1981;35(4):521‐5.
Higgins JPT, Green S (editors). Cochrane Handbook for Systematic Reviews of Interventions version 5.1.0 [updated March 2011]. The Cochrane Collaboration, 2011. Available from www.cochrane‐handbook.org.
Higgins JPT, Altman DG, Sterne JAC (editors). Chapter 8: Assessing risk of bias in included studies. Higgins JPT, Green S (editors). Cochrane Handbook for Systematic Reviews of Interventions version 5.1.0 [updated March 2011]. The Cochrane Collaboration, 2011. Available from www.cochrane‐handbook.org.
Higuchi O, Hamuro J, Motomura M, Yamanashi Y. Autoantibodies to low‐density lipoprotein receptor‐related protein 4 in myasthenia gravis. Annals of Neurology 2011;69(2):418‐22.
Hoch W, McConville J, Helms S, Newsom‐Davis J, Melms A, Vincent A. Auto‐antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies. Nature Medicine 2001;7(3):365‐8.
Huzé C, Bauché S, Richard P, Chevessier F, Goillot E, Gaudon K, et al. Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. American Journal of Human Genetics 2009;85(2):155‐67.
Johnston JD. Special section on myasthenia: the contributions of Dr. Mary Walker towards myasthenia gravis and periodic paralysis whilst working in poor law hospitals in London. Journal of the History of the Neurosciences: Basic and Clinical Perspectives 2005;14(2):121‐37.
Juel VC, Massey JM. Myasthenia gravis. Orphanet Journal of Rare Diseases 2007;2(Nov):44‐57.
Keesey JC. Clinical evaluation and management of myasthenia gravis. Muscle & Nerve 2004;29(4):484‐505.
Kernan WN, Viscoli CM, Brass LM, Broderick JP, Brott T, Feldmann E, et al. Phenylpropanolamine and the risk of hemorrhagic stroke. New England Journal of Medicine 2000;343(25):1826‐32.
Khan A, Hussain N, Gosalakkal JA. Bulbar dysfunction: An early presentation of congenital myasthenic syndrome in three infants. Journal of Pediatric Neurosciences 2011;6(2):124‐6.
Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, et al. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. Journal of Neuroimmunology 2008;201‐202:6‐12.
Klehmet J, Dudenhausen J, Meisel A. Course and treatment of myasthenia gravis during pregnancy [Verlauf und Behandlung der Myasthenia gravis in der Schwangerschaft]. Nervenarzt 2010;81(8):956‐62.
Klein A, Pitt MC, McHugh JC, Niks EH, Sewry CA, Phadke R, et al. DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children. Neuromuscular Disorders 2013;23(11):883‐91. [PUBMED: 23831158]
Lashley D, Beeson D, Jayawant S, Palace J. Ephedrine treatment results in profound functional improvements in DOK‐7 congenital myasthenia. Journal of Neurology, Neurosurgery & Psychiatry 2009;80(11):24.
Lashley D, Palace J, Jayawant S, Robb S, Beeson D. Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7. Neurology 2010;74(19):1517‐23.
Leite MI, Jacob S, Viegas S, Cossins J, Clover L, Morgan BP, et al. IgGI antibodies to acetylcholine receptors in 'seronegative' myasthenia gravis. Brain 2008;131(7):1940‐52.
Liewluck T, Selcen D, Engel AG. Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and DOK‐7 myasthenia. Muscle & Nerve 2011;44(5):789‐94.
Linzoain J, Avila‐Smirnov D, Essid N, Rubinzstajn R, Bigue V, Renault F, et al. Challenges in diagnosis and management of a patient with severe congenital myasthenic syndrome mutated in CHRNE. Neuromuscular Disorders 2011;21(9):727‐8.
Loke YK, Price D, Herxheimer A. Chapter 14: Adverse effects. Higgins JPT, Green S (editors), Cochrane Handbook for Systematic Reviews of Interventions Version 5.1.0 [updated March 2011]. The Cochrane Collaboration, 2011. Available from www.cochrane‐handbook.org.
Lorenzoni PJ, Scola RH, Kay CSK, Werneck LC. Congenital myasthenic syndrome: a brief review. Pediatric Neurology 2012;46(3):141‐8.
Lorenzoni PJ, Scola RH, Kay CSK, Lochmüller H, Werneck LC. Congenital myasthenic syndrome and minicore‐like myopathy with DOK7 mutation. Muscle & Nerve 2013;48(1):151‐2. [PUBMED: 23657916]
Macdonald AM, Keen RI, Pugh ND. Myasthenia gravis and atracurium: a case report. British Journal of Anaesthesia 1984;56(6):651‐4.
Maselli RA, Kong DZ, Bowe CM, McDonald CM, Ellis WG, Agius MA, et al. Presynaptic congenital myasthenic syndrome due to quantal release deficiency. Neurology 2001;57(2):279‐89.
Maselli RA, Ng JJ, Anderson JA, Cagney O, Arredondo J, Williams C, et al. Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. Journal of Medical Genetics 2009;46(3):203‐8.
Maselli RA, Arredondo J, Cagney Ó, Ng JJ, Anderson JA, Williams C, et al. Mutations in MUSK causing congenital myasthenic syndrome impair MuSK‐Dok‐7 interaction. Human Molecular Genetics 2010;19(12):2370‐9.
Maselli RA, Arredondo J, Cagney O, Mozaffar T, Skinner S, Yousif S, et al. Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE. Clinical Genetics 2011;80(5):444‐51.
McAlpine JK, Thomson JE. Myasthenia gravis and Schmidt syndrome. Postgraduate Medical Journal 1988;64(756):787‐8.
Mehndiratta MM, Pandey S, Kuntzer T. Acetylcholinesterase inhibitor treatment for myasthenia gravis. Cochrane Database of Systematic Reviews 2014, Issue 10. [DOI: 10.1002/14651858.CD006986.pub3]
Meyer A, Levy Y. Chapter 33: Geoepidemiology of myasthenia gravis. Autoimmunity Reviews 2010;9(5):A383‐6.
Medicines and Healthcare products Regulatory Agency (MHRA). Pseudoephedrine‐ and ephedrine‐containing medicines: 2012 review of actions to manage the risk of misuse. Available from www.mhra.gov.uk 2012 Oct (accessed 3 December 2014).
Mihaylova V, Müller J, Vilchez J, Salih M, Kabiraj M, D'Amico A, et al. Phenotypical spectrum of congenital myasthenic syndrome caused by mutations in COLQ gene. Journal of Neurology 2008;255(Suppl 2):185.
Mihaylova V, Muller J, Vilchez J, Salih M, Kabiraj M, D'Amico A, et al. Clinical and molecular genetic findings in 22 COLQ‐mutant CMS patients. Neurology 2008;70(11):A426.
Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, et al. Clinical and molecular genetic findings in COLQ‐mutant congenital myasthenic syndromes. Brain 2008;131(Pt 3):747‐59.
Mihaylova V, Salih MAM, Mukhtar MM, Abuzeid HA, El‐Sadig SM, von der Hagen M, et al. Refinement of the clinical phenotype in MUSK‐related congenital myasthenic syndromes. Neurology 2009;73(22):1926‐28.
Milone M, Engel AG. Block of the endplate acetylcholine receptor channel by the sympathomimetic agents ephedrine, pseudoephedrine and albuterol. Brain Research 1996;740(1‐2):346‐52.
NCT00294658. A multi‐center, single‐blind, randomized study comparing thymectomy to no thymectomy in non‐thymomatous myasthenia gravis (MG) patients receiving prednisone. clinicaltrials.gov/show/NCT00294658 (accessed 29 September 2013).
Nelson WE. Myasthenia gravis in a child: observations on the effect of ephedrine therapy. Journal of Pediatrics 1935;7(2):231‐7.
Nicole S, Chaouch A, Torbergsen T, Bauche S, De Bruyckere E, Fontenille M‐J, et al. Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. Brain 2014;137(9):2429‐43. [PUBMED: 24951643 ]
Nogajski JH, Kiernan MC, Ouvrier RA, Andrews PI. Congenital myasthenic syndromes. Journal of Clinical Neuroscience 2009;16(1):1‐11.
Palace J, Lashley D, Newsom‐Davis J, Cossins J, Maxwell S, Kennett R, et al. Clinical features of the DOK7 neuromuscular junction synaptopathy. Brain 2007;130(Pt 6):1507‐15.
Palace J, Beeson D. The congenital myasthenic syndromes. Journal of Neuroimmunology 2008;201‐202:2‐5.
Palace J, Lashley D, Bailey S, Jayawant S, Carr A, McConville J, et al. Clinical features in a series of fast channel congenital myasthenia syndrome. Neuromuscular Disorders 2012;22(2):112‐7.
Papazian O. Transient neonatal myasthenia gravis. Journal of Child Neurology 1992;7(2):135‐41.
Patten BM, Hart A, Lovelace R. Multiple sclerosis associated with defects in neuromuscular transmission. Journal of Neurology, Neurosurgery, & Psychiatry 1972;35(3):385‐94.
Pearce JMS. Mary Broadfoot Walker (1888‐1974): a historic discovery in myasthenia gravis. European Neurology 2005;53(1):51‐3.
Pevzner A, Schoser B, Peters K, Cosma NC, Karakatsani A, Schalke B, et al. Anti‐LRP4 autoantibodies in AChR‐ and MuSK‐antibody negative myasthenia gravis. Journal of Neurology 2012;259(3):427‐35.
Plauché WC. Myasthenia gravis in mothers and their newborns. Clinical Obstetrics and Gynecology 1991;34(1):82‐99.
Reeves BC, Deeks JJ, Higgins JPT, Wells GA. Chapter 13: Including non‐randomized studies. Higgins JPT, Green S (editors). Cochrane Handbook for Systematic Reviews of Interventions version 5.1.0 [updated March 2011]. The Cochrane Collaboration, 2011. Available from www.cochrane‐handbook.org.
The Nordic Cochrane Centre, The Cochrane Collaboration. Review Manager (RevMan). Version 5.3. Copenhagen: The Nordic Cochrane Centre, The Cochrane Collaboration, 2014.
Robb SA, Muntoni F, Simonds AK. Respiratory management of congenital myasthenic syndromes in childhood: Workshop 8th December 2009, UCL Institute of Neurology, London, UK. Neuromuscular Disorders 2010;20(12):833‐8.
Sadeh M, Shen X, Engel AG. Beneficial effects of albuterol in congenital myasthenic syndrome with epsilon‐subunit mutations. Muscle & Nerve 2011;44(2):289‐91.
Sarkozy A, Lochmüller H. Neuromuscular disorders and 2010: recent advances. Journal of Neurology 2010;257(12):2117‐21.
Schara U, Deschauer M, Wendt M, Strigl‐Pill N, Müller JS, Abicht A, et al. Therapeutic effects of ephedrine in congenital myasthenic syndrome due to DOK7 mutations. Neuromuscular Disorders 2007;17(9‐10):818‐9.
Schara U, Lochmüller H. Therapeutic strategies in congenital myasthenic syndromes. Neurotherapeutics 2008;5(4):542‐7.
Schara U, Barišić N, Deschauer M, Lindberg C, Straub V, Strigl‐Pill N, et al. Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscular Disorders 2009;19(12):828‐32.
Schara U, Della Marina A, Abicht A. Congenital myasthenic syndromes: current diagnostic and therapeutic approaches. Neuropediatrics 2012;43(4):184‐93.
Schneider‐Gold C, Gajdos P, Toyka KV, Hohlfeld RR. Corticosteroids for myasthenia gravis. Cochrane Database of Systematic Reviews 2005, Issue 2. [DOI: 10.1002/14651858.CD002828.pub2]
Schwarz H. Urecholine in myasthenia gravis. Canadian Medical Association Journal 1955;72(5):346‐51.
Selcen D, Milone M, Shen X‐M, Harper CM, Stans AA, Wieben ED, et al. Dok‐7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Annals of Neurology 2008;64(1):71‐87.
Shinnick‐Gallagher P, Gallagher JP. Ephedrine: a postsynaptic depressant drug at the mammalian neuromuscular junction. Neuropharmacology 1979;18(10):755‐61.
Sieb JP, Engel AG. Ephedrine: effects on neuromuscular transmission. Brain Research 1993;623(1):167‐71.
Simpson JF, Westerberg MR, Magee KR. Myasthenia gravis: an analysis of 295 cases. Acta Neurologica Scandinavica 1966;42 Suppl 23:1‐27.
Slater CR, Fawcett PRW, Walls TJ, Lyons PR, Bailey SJ, Beeson D, et al. Pre‐ and post‐synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb‐girdle myasthenia'. Brain 2006;129(8):2061‐76.
Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell MI, et al. DOK7 mutations presenting as a proximal myopathy in French Canadians. Neuromuscular Disorders 2010;20(7):453‐7.
Terblanche N, Maxwell C, Keunen J, Carvalho JC. Obstetric and anesthetic management of severe congenital myasthenia syndrome. Anesthesia and Analgesia 2008;107(4):1313‐5.
United Nations Office on Drugs and Crime. United Nations convention against illicit traffic in narcotic drugs and psychotropic substances, 1988. Available from www.unodc.org (accessed 3 December 2014).
Viets H, Schwab R. The diagnosis and treatment of myasthenia gravis: with special reference to the use of prostigmine. Journal of the American Medical Association 1939;113(7):559‐63.
Vincent A, McConville J, Farrugia ME, Bowen J, Plested P, Tang T, et al. Antibodies in myasthenia gravis and related disorders. Annals of the New York Academy of Sciences 2003 Sep;998:324‐35.
Walker MB. Treatment of myasthenia gravis with physostigmine. Lancet 1934;223(5779):1200‐1.
Walker MB. A contribution to the study of myasthenia gravis [MD thesis]. Edinburgh, UK: University of Edinburgh, 1935.
Wargon I, Richard P, Kuntzer T, Nafissi S, Gaudon K, Sternberg D, et al. P5.17 Congenital Myasthenic Syndromes with COLQ mutations: long term follow‐up. Neuromuscular Disorders 2011;21(9):728‐9.
Wargon I, Richard P, Kuntzer T, Sternberg D, Nafissi S, Gaudon K, et al. Long‐term follow‐up of patients with congenital myasthenic syndrome caused by COLQ mutations. Neuromuscular Disorders 2012;22(4):318‐24.
Wilson A, Stoner HB. Prostigmin and ephedrine in myasthenia gravis. Lancet 1944;243(6292):429‐31.
Wirtz PW, Nijnuis MG, Sotodeh M, Williams LN, Brahim JJ, Putter H, et al. The epidemiology of myasthenia gravis, Lambert‐Eaton myasthenic syndrome and their associated tumours in th northern part of the province of South Holland. Journal of Neurology 2003;250(6):698‐701.
Witting N, Vissing J. Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome. JAMA Neurology 2014;71(3):350‐4. [PUBMED: 24425145]
Electronic Medicines Compendium. Summary of product characteristics ephedrine hydrochloride 15, 30 & 60 mg tablets (Wockhardt UK Ltd). Electronic Medicines Compendium. Datapharm Communications Ltd Last update: 21/11/2008. Available from www.medicines.org.uk/EMC/ (accessed 3 December 2014).
Yahr MD, Davis TK. Myasthenia gravis ‐ its occurrence in a seven‐year‐old female child. Journal of Pediatrics 1944;25(3):218‐25.
Yeung WL, Lam CW, Ng PC. Intra‐familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations. Developmental Medicine & Child Neurology 2010;52(10):e243‐4.
Zhang B, Tzartos JS, Belimezi M, Ragheb S, Bealmear B, Lewis RA, et al. Autoantibodies to lipoprotein‐related protein 4 in patients with double‐seronegative myasthenia gravis. Archives of Neurology 2012;69(4):445‐51.
References to other published versions of this review
Jump to:
Vrinten C, Weinreich SS, Scholten RJPM, Verschuuren JJGM. Ephedrine for myasthenia gravis. Cochrane Database of Systematic Reviews 2012, Issue 8. [DOI: 10.1002/14651858.CD010028]
Characteristics of studies
Characteristics of ongoing studies [ordered by study ID]
| Trial name or title | Ephedrine for the treatment of congenital myasthenia |
| Methods | Safety/efficacy study using a randomised, double‐blind, placebo‐controlled single cross‐over design |
| Participants | Male or female COLQ patients |
| Interventions | Ephedrine (5 weeks) versus placebo (5 weeks) |
| Outcomes | Strength, fatigability, quality of life, spirometry |
| Starting date | October 2007 |
| Contact information | Principal Investigator: Simon Edvardson Hadassah Medical Organization |
| Notes | Enrolment by invitation only |
Figures and Tables -
Figure 1
Study flow diagram (a supplementary search shortly before publication resulted in 16 references, no RCTs or quasi‐RCTs and seven additional studies to be assessed for inclusion in the Discussion at the next update).
| Type of myasthenia | Before‐after studies | Case series | Case reports | No. of people in review | Ephedrine dose (orally, unless stated otherwise) | Effect |
| Autoimmune | ||||||
| AChR MG | ‐ | ‐ | 3 | 3 | 15 to 40 mg 4 times daily or 4 mg I.V. Not reported in some. | Possible improvement in muscle strength in 3 people. Adverse effects reported. |
| MuSK MG | ‐ | ‐ | 2 | 2 | 12 to 50 mg 3 times daily | Possible improvement in symptoms in 2 people. Adverse effects reported. |
| Neonatal myasthenia gravis | n/a | n/a | n/a | n/a | n/a | n/a |
| Congenital myasthenic syndromes | ||||||
| Presynaptic | ||||||
| CHAT (Kinali 2008 and Robb 2010) | ‐ | 1 | ‐ | 1 | Not reported | Possible improvement in symptoms in 1 person. |
| Presynaptic other (Engel 2003 and Maselli 2001) | ‐ | 1 | ‐ | 1 | Not reported | Possible improvement in muscle strength and fatigue in 1 person. |
| Synaptic | ||||||
| AGRN | ‐ | 2 | ‐ | 3 | 50 mg/day or 2 mg/kg/day | Possible improvements in muscle strength, endurance and well‐being in 2 people. No change in 1 person. |
| COLQ (Adamovičová 2012; Bestue‐Cardiel 2005, Bestué 2006, Brengman 2006 and Engel 2008; Chaouch 2012; Chillingworth 2009; Edvardson 2007 and NCT00541216; Guven 2012; Kinali 2008; Mihaylova 2008a, Mihaylova 2008b, Mihaylova 2008c and Chaouch 2012; Wargon 2012, Wargon 2011 and Bauduin 2011; Yeung 2010) | ‐ | 9 | 1 | 29 | 50 to 200 mg/day (adults) or 0.5 to 5 mg/kg/day (children). Not reported in some. | Possible improvements in endurance, muscle strength or both in about half of 29 people. Possible improvements in quality of life and respiration. No change reported in 3 people. Adverse effects reported. |
| LAMB2 | ‐ | ‐ | 1 | 1 | Not reported | Possible improvements in 1 person. |
| Postsynaptic | ||||||
| CHRNE (Beeson 2005; Burke 2004; Khan 2011; Kinali 2008; Linzoain 2011; Maselli 2011; Nogajski 2009) | ‐ | 3 | 4 | 14 | 7.5 mg twice daily. Not reported in most. | Possible improvements in 9/14 people. No change in 4 people. Adverse effects suspected. |
| DOK7 (Anderson 2008; Ben Ammar 2010 and Sarkozy 2010; Burke 2009; Burke 2013 and Burke 2011; Della Marina 2011; Kinali 2008; Lashley 2010, Chaouch 2012, Cossins 2010 and Lashley 2009; Palace 2007 and Slater 2006; Schara 2009 and Schara 2007; Schara 2012; Selcen 2008; Srour 2010) | 4 | 7 | 1 | 40 | 7.5 to 100 mg/day or 0.5 to 1.0 mg/kg/day (children). Not reported in some. | Possible improvements in endurance, muscle strength, quality of life, or unspecified improvements in majority of 40 people. No response in 4 people. Adverse effects reported in 10 people. |
| Fast channel | ‐ | ‐ | 1 | 1 | Not reported | Possibly no effect in 1 person. |
| Limb‐girdle | ‐ | 3 | 5 | Not reported | Possible improvements in all 5 people. | |
| MuSK | ‐ | 1 | 1 | 2 | Not reported | No response in 1 person. Not tolerated in the other person. |
| RAPSN | ‐ | 3 | 4 | Not reported | Possible improvements in all 4 people. | |
| Slow channel | ‐ | 1 | ‐ | 1 | Not reported | Possible slight improvement in 1 person. |
| Not genetically characterised CMS | ||||||
| 1 | 2 | 1 | 5 | 25 ‐ 50 mg oral, or 25 mg twice daily oral, or 25 mg I.M. Not reported in some. | No objective improvements in forced vital capacity, muscle strength, or RNS/CMAP decrement. Possible subjective improvements in strength. Adverse effects reported. | |
| Unknown form of myasthenia | ||||||
| (Chan‐Lui 1984; Dalkara 1988; Edgeworth 1930, Edgeworth 1933 and Boothby 1934; Nelson 1935; Patten 1972; Pearce 2005, Johnston 2005, Walker 1934 and Walker 1935; Schwarz 1955; Simpson 1966; Viets 1939; Wilson 1944; Yahr 1944) | 1 | 7 | 3 | 196 | 15 ‐ 96 mg oral, or < 64 mg S.C., or 3% eye drop solution. Not reported in some. | Possible improvements in a majority of people. No response in a minority. Adverse effects reported. |
| AChR: acetylcholine receptor; CMAP: compound muscle action potential; CMS: congenital myasthenic syndrome; I.M.: intramuscular; I.V.: intravenous; MG: myasthenia gravis; MuSK: muscle specific tyrosine kinase; n/a: not applicable; RNS: repetitive nerve stimulation; S.C.: subcutaneous | ||||||
Figures and Tables -
Table 1. Summaries of findings of non‐randomised studies
