Autoimmune Neuromuscular Transmission Disorders
G. O. Skeie
Department of Clinical Medicine, University of Bergen and Department of Neurology, Haukeland University Hospital, Bergen, Norway
Search for more papers by this authorS. Apostolski
Institute of Neurology, School of Medicine, University of Belgrade, Serbia and Montenegro
Search for more papers by this authorN. E. Gilhus MD, PhD
Professor
Department of Clinical Medicine, University of Bergen and Department of Neurology, Haukeland University Hospital, Bergen, Norway
Search for more papers by this authorL. Harms
Universitätsmedizin Berlin Charité, Neurologische Klinik Berlin, Germany
Search for more papers by this authorH. Westgaard Horge
The Norwegian Musculary Disorders Association, Norway
Search for more papers by this authorG. O. Skeie
Department of Clinical Medicine, University of Bergen and Department of Neurology, Haukeland University Hospital, Bergen, Norway
Search for more papers by this authorS. Apostolski
Institute of Neurology, School of Medicine, University of Belgrade, Serbia and Montenegro
Search for more papers by this authorN. E. Gilhus MD, PhD
Professor
Department of Clinical Medicine, University of Bergen and Department of Neurology, Haukeland University Hospital, Bergen, Norway
Search for more papers by this authorL. Harms
Universitätsmedizin Berlin Charité, Neurologische Klinik Berlin, Germany
Search for more papers by this authorH. Westgaard Horge
The Norwegian Musculary Disorders Association, Norway
Search for more papers by this authorNils Erik Gilhus MD, PhD
Professor
Department of Clinical Medicine, University of Bergen and Department of Neurology, Haukeland University Hospital, Bergen, Norway
Search for more papers by this authorMichael P. Barnes MD, FRCP
Professor of Neurological Rehabilitation Medical Director
University of Newcastle, Hunters Moor Neurorehabilitation Ltd, Newcastle upon Tyne, UK
Search for more papers by this authorMichael Brainin MD
Professor
Department of Clinical Medicine and Prevention, and Center for Clinical Neurosciences, Donau-Universität Krems, Department of Neurology, Landesklinikum Donauregion Tulln Tulln, Austria
Search for more papers by this authorNils Erik Gilhus MD, PhD
Professor
Department of Clinical Medicine, University of Bergen and Department of Neurology, Haukeland University Hospital, Bergen, Norway
Search for more papers by this authorMichael P. Barnes MD, FRCP
Professor of Neurological Rehabilitation Medical Director
University of Newcastle, Hunters Moor Neurorehabilitation Ltd, Newcastle upon Tyne, UK
Search for more papers by this authorMichael Brainin MD
Professor
Department of Clinical Medicine and Prevention, and Center for Clinical Neurosciences, Donau-Universität Krems, Department of Neurology, Landesklinikum Donauregion Tulln Tulln, Austria
Search for more papers by this authorSummary
This chapter contains sections titled:
-
Background and objectives
-
Materials and methods
-
Myasthenia gravis (MG)
-
Lambert-Eaton myasthenic syndrome (LEMS)
-
Neuromyotonia (peripheral nerve hyperexcitability)/Isaacs' syndrome
-
References
References
-
Brainin M, Barnes M, Baron JC, et al. Guidance for the preparation of neurological management guidelines by EFNS scientific task forces–revised recommendations. Eur J Neurol 2004; 2004 (11): 577–81.
10.1111/j.1468-1331.2004.00867.x Google Scholar
- Vincent A. Unravelling the pathogenesis of myasthenia gravis. Nat Rev Immunol 2002; 2: 797–804.
- 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. Nat Med 2001; 7: 365–8.
- Aarli JA, Stefansson K, Marton LS, Wollmann RL. Patients with myasthenia gravis and thymoma have in their sera IgG autoantibodies against titin. Clin Exp Immunol 1990; 82: 284–8.
- Mygland A, Tysnes OB, Matre R, Volpe P, Aarli JA, Gilhus NE. Ryanodine receptor autoantibodies in myasthenia gravis patients with a thymoma. Ann Neurol 1992; 32: 589–91.
- Skeie GO, Mygland A, Aarli JA, Gilhus NE. Titin antibodies in patients with late onset myasthenia gravis: clinical correlations. Autoimmunity 1995; 20: 99–104.
- Somnier FE, Skeie GO, Aarli JA, Trojaborg W. EMG evidence of myopathy and the occurrence of titin autoantibodies in patients with myasthenia gravis. Eur J Neurol 1999; 6: 555–63.
- Gerber NL, Steinberg AD. Clinical use of immunosuppressive drugs: part II. Drugs 1976; 11: 90–112.
- Evoli A, Di Schino C, Marsili F, Punzi C. Successful treatment of myasthenia gravis with tacrolimus. Muscle Nerve 2002; 25: 111–4.
- Goulon M, Elkharrat D, Gajdos P. Treatment of severe myasthenia gravis with cyclosporin. A 12-month open trial. Presse Med 1989; 18: 341–6.
- Owe JF, Daltveit AK, Gilhus NE. Causes of death among patients with myasthenia gravis in Norway between 1951 and 2001. J Neurol Neurosurg Psychiatry 2006; 77: 203–7.
- Szathmary I, Magyar P, Szobor A. Air-flow limitation in myasthenia gravis. The effect of acetylcholinesterase inhibitor therapy on air-flow limitation. Am Rev Respir Dis 1984; 130: 145.
- Shale DJ, Lane DJ, Davis CJ. Air-flow limitation in myasthenia gravis. The effect of acetylcholinesterase inhibitor therapy on air-flow limitation. Am Rev Respir Dis 1983; 128: 618–21.
- Punga AR, Flink R, Askmark H, Stalberg EV. Cholinergic neuromuscular hyperactivity in patients with myasthenia gravis seropositive for MuSK antibody. Muscle Nerve 2006; 34: 111–5.
- Sghirlanzoni A, Pareyson D, Benvenuti C, et al. Efficacy of intranasal administration of neostigmine in myasthenic patients. J Neurol 1992; 239: 165–9.
- Anlar B, Varli K, Ozdirim E, Ertan M. 3,4-diaminopyridine in childhood myasthenia: double-blind, placebo-controlled trial. J Child Neurol 1996; 11: 458–61.
- Sieb JP, Engel AG. Ephedrine: effects on neuromuscular transmission. Brain Res 1993; 623: 167–71.
- Soliven B, Rezania K, Gundogdu B, Harding-Clay B, Oger J, Arnason BG. Terbutaline in myasthenia gravis: a pilot study. J Neurol Sci 2009; 277: 150–4.
- Romi F, Skeie GO, Aarli JA, Gilhus NE. The severity of myasthenia gravis correlates with the serum concentration of titin and ryanodine receptor antibodies. Arch Neurol 2000; 57: 1596–600.
- Meriggioli MN, Sanders DB. Autoimmune myasthenia gravis: emerging clinical and biological heterogeneity. Lancet Neurol 2009; 8: 475–90.
- Gajdos P, Chevret S, Toyka K. Plasma exchange for myasthenia gravis. Cochrane Database Syst Rev 2002; CD002275.
- Gajdos P, Simon N, de Rohan-Chabot P, Raphael JC, Goulon M. Long-term effects of plasma exchange in myasthenia. Results of a randomized study. Presse Med 1983; 12: 939–42.
- Fateh-Moghadam A, Wick M, Besinger U, Geursen RG. High-dose intravenous gammaglobulin for myasthenia gravis. Lancet 1984; 1: 848–9.
- Elovaara I, Apostolski S, van Doorn P, et al. EFNS guidelines for the use of intravenous immunoglobulin in treatment of neurological diseases: EFNS task force on the use of intravenous immunoglobulin in treatment of neurological diseases. Eur J Neurol 2008; 15: 893–908.
-
Dalakas MC. Intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: present status and practical therapeutic guidelines. Muscle Nerve 1999; 22: 1479–97.
10.1002/(SICI)1097-4598(199911)22:11<1479::AID-MUS3>3.0.CO;2-B CAS PubMed Web of Science® Google Scholar
- Gajdos P, Chevret S, Toyka K. Intravenous immunoglobulin for myasthenia gravis. Cochrane Database Syst Rev 2008; CD002277.
- Gajdos P, Chevret S, Toyka K. Intravenous immunoglobulin for myasthenia gravis. Cochrane Database Syst Rev 2003; CD002277.
- Gajdos P, Chevret S, Clair B, Tranchant C, Chastang C. Clinical trial of plasma exchange and high-dose intravenous immunoglobulin in myasthenia gravis. Myasthenia Gravis Clinical Study Group. Ann Neurol 1997; 41: 789–96.
- Zinman L, Ng E, Bril V. IV immunoglobulin in patients with myasthenia gravis: a randomized controlled trial. Neurology 2007; 68: 837–41.
- Meyer DM, Herbert MA, Sobhani NC, et al. Comparative clinical outcomes of thymectomy for myasthenia gravis performed by extended transsternal and minimally invasive approaches. Ann Thorac Surg 2009; 87: 385–90; discussion 390–81.
- Buckingham JM, Howard FM, Jr, Bernatz PE, et al. The value of thymectomy in myasthenia gravis: a computer-assisted matched study. Ann Surg 1976; 184: 453–8.
- Gronseth GS, Barohn RJ. Thymectomy for Myasthenia Gravis. Curr Treat Options Neurol 2002; 4: 203–9.
- Gronseth GS, Barohn RJ. Practice parameter: thymectomy for autoimmune myasthenia gravis (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology 2000; 55: 7–15.
- Leite MI, Jacob S, Viegas S, et al. IgG1 antibodies to acetylcholine receptors in “seronegative” myasthenia gravis. Brain 2008; 131: 1940–52.
- Guillermo GR, Tellez-Zenteno JF, Weder-Cisneros N, et al. Response of thymectomy: clinical and pathological characteristics among seronegative and seropositive myasthenia gravis patients. Acta Neurol Scand 2004; 109: 217–21.
- Evoli A, Tonali PA, Padua L, et al. Clinical correlates with anti-MuSK antibodies in generalized seronegative myasthenia gravis. Brain 2003; 126: 2304–11.
- Pompeo E, Tacconi F, Massa R, Mineo D, Nahmias S, Mineo TC. Long-term outcome of thoracoscopic extended thymectomy for nonthymomatous myasthenia gravis. Eur J Cardiothorac Surg 2009; 36: 164–9.
- Reinhardt C, Melms A. Normalization of elevated CD4-/ CD8-(double-negative) T cells after thymectomy parallels clinical remission in myasthenia gravis associated with thymic hyperplasia but not thymoma. Ann Neurol 2000; 48: 603–8.
- Chen G, Marx A, Wen-Hu C, et al. New WHO histologic classification predicts prognosis of thymic epithelial tumors: a clinicopathologic study of 200 thymoma cases from China. Cancer 2002; 95: 420–9.
- Pascuzzi RM, Coslett HB, Johns TR. Long-term corticosteroid treatment of myasthenia gravis: report of 116 patients. Ann Neurol 1984; 15: 291–8.
- Saag KG. Prevention of glucocorticoid-induced osteoporosis. South Med J 2004; 97: 555–8.
- Palace J, Newsom-Davis J, Lecky B. A randomized double-blind trial of prednisolone alone or with azathioprine in myasthenia gravis. Myasthenia Gravis Study Group. Neurology 1998; 50: 1778–83.
- Witte AS, Cornblath DR, Parry GJ, Lisak RP, Schatz NJ. Azathioprine in the treatment of myasthenia gravis. Ann Neurol 1984; 15: 602–5.
- Bromberg MB, Wald JJ, Forshew DA, Feldman EL, Albers JW. Randomized trial of azathioprine or prednisone for initial immunosuppressive treatment of myasthenia gravis. J Neurol Sci 1997; 150: 59–62.
- De Feo LG, Schottlender J, Martelli NA, Molfino NA. Use of intravenous pulsed cyclophosphamide in severe, generalized myasthenia gravis. Muscle Nerve 2002; 26: 31–6.
- Matsuda S, Koyasu S. Mechanisms of action of cyclosporine. Immunopharmacology 2000; 47: 119–25.
- Tindall RS, Rollins JA, Phillips JT, Greenlee RG, Wells L, Belendiuk G. Preliminary results of a double-blind, randomized, placebo-controlled trial of cyclosporine in myasthenia gravis. N Engl J Med 1987; 316: 719–24.
- Tindall RS. Immunointervention with cyclosporin A in autoimmune neurological disorders. J Autoimmun 1992; 5 (Suppl. A): 301–13.
- Tindall RS, Phillips JT, Rollins JA, Wells L, Hall K. A clinical therapeutic trial of cyclosporine in myasthenia gravis. Ann N Y Acad Sci 1993; 681: 539–51.
- Goulon M, Elkharrat D, Lokiec F, Gajdos P. Results of a one-year open trial of cyclosporine in ten patients with severe myasthenia gravis. Transplant Proc 1988; 20: 211–7.
- Bonifati DM, Angelini C. Long-term cyclosporine treatment in a group of severe myasthenia gravis patients. J Neurol 1997; 244: 542–7.
- Ciafaloni E, Nikhar NK, Massey JM, Sanders DB. Retrospective analysis of the use of cyclosporine in myasthenia gravis. Neurology 2000; 55: 448–50.
- Ciafaloni E, Massey JM, Tucker-Lipscomb B, Sanders DB. Mycophenolate mofetil for myasthenia gravis: an open-label pilot study. Neurology 2001; 56: 97–9.
- Chaudhry V, Cornblath DR, Griffin JW, O'Brien R, Drachman DB. Mycophenolate mofetil: a safe and promising immunosuppressant in neuromuscular diseases. Neurology 2001; 56: 94–6.
- Schneider C, Gold R, Reiners K, Toyka KV. Mycophenolate mofetil in the therapy of severe myasthenia gravis. Eur Neurol 2001; 46: 79–82.
- Hauser RA, Malek AR, Rosen R. Successful treatment of a patient with severe refractory myasthenia gravis using mycophenolate mofetil. Neurology 1998; 51: 912–3.
- Meriggioli MN, Rowin J. Single fiber EMG as an outcome measure in myasthenia gravis: results from a double-blind, placebo-controlled trial. J Clin Neurophysiol 2003; 20: 382–5.
- Meriggioli MN, Rowin J. Treatment of myasthenia gravis with mycophenolate mofetil: a case report. Muscle Nerve 2000; 23: 1287–9.
- Meriggioli MN, Ciafaloni E, Al-Hayk KA, et al. Mycophenolate mofetil for myasthenia gravis: an analysis of efficacy, safety, and tolerability. Neurology 2003; 61: 1438–40.
- Sanders DB, Hart IK, Mantegazza R, et al. An international, phase III, randomized trial of mycophenolate mofetil in myasthenia gravis. Neurology 2008; 71: 400–6.
- Timerman AP, Ogunbumni E, Freund E, Wiederrecht G, Marks AR, Fleischer S. The calcium release channel of sarcoplasmic reticulum is modulated by FK-506-binding protein. Dissociation and reconstitution of FKBP-12 to the calcium release channel of skeletal muscle sarcoplasmic reticulum. J Biol Chem 1993; 268: 22992–9.
- Takamori M, Motomura M, Kawaguchi N, et al. Anti-ryanodine receptor antibodies and FK506 in myasthenia gravis. Neurology 2004; 62: 1894–6.
- Konishi T, Yoshiyama Y, Takamori M, Yagi K, Mukai E, Saida T. Clinical study of FK506 in patients with myasthenia gravis. Muscle Nerve 2003; 28: 570–4.
- Yoshikawa H, Mabuchi K, Yasukawa Y, Takamori M, Yamada M. Low-dose tacrolimus for intractable myasthenia gravis. J Clin Neurosci 2002; 9: 627–8.
- Tada M, Shimohata T, Oyake M, et al. Long-term therapeutic efficacy and safety of low-dose tacrolimus (FK506) for myasthenia gravis. J Neurol Sci 2006; 247: 17–20.
- Nagaishi A, Yukitake M, Kuroda Y. Long-term treatment of steroid-dependent myasthenia gravis patients with low-dose tacrolimus. Intern Med 2008; 47: 731–6.
- Wylam ME, Anderson PM, Kuntz NL, Rodriguez V. Successful treatment of refractory myasthenia gravis using rituximab: a pediatric case report. J Pediatr 2003; 143: 674–7.
- Illa I, Diaz-Manera J, Rojas-Garcia R, et al. Sustained response to Rituximab in anti-AChR and anti-MuSK positive Myasthenia Gravis patients. J Neuroimmunol 2008; 201–202: 90–4.
- Lebrun C, Bourg V, Tieulie N, Thomas P. Successful treatment of refractory generalized myasthenia gravis with rituximab. Eur J Neurol 2009; 16: 246–50.
- Stieglbauer K, Topakian R, Schaffer V, Aichner FT. Rituximab for myasthenia gravis: three case reports and review of the literature. J Neurol Sci 2009; 280: 120–2.
- Ahlberg R, Yi Q, Pirskanen R, et al. Treatment of myasthenia gravis with anti-CD4 antibody: improvement correlates to decreased T-cell autoreactivity. Neurology 1994; 44: 1732–7.
- Weiner P, Gross D, Meiner Z, et al. Respiratory muscle training in patients with moderate to severe myasthenia gravis. Can J Neurol Sci 1998; 25: 236–41.
- Rassler B, Hallebach G, Kalischewski P, Baumann I, Schauer J, Spengler CM. The effect of respiratory muscle endurance training in patients with myasthenia gravis. Neuromuscul Disord 2007; 17: 385–91.
- Lohi EL, Lindberg C, Andersen O. Physical training effects in myasthenia gravis. Arch Phys Med Rehabil 1993; 74: 1178–80.
- Hoff JM, Daltveit AK, Gilhus NE. Myasthenia gravis: consequences for pregnancy, delivery, and the newborn. Neurology 2003; 61: 1362–6.
- Wen JC, Liu TC, Chen YH, Chen SF, Lin HC, Tsai WC. No increased risk of adverse pregnancy outcomes for women with myasthenia gravis: a nationwide population-based study. Eur J Neurol 2009; 16: 889–94.
- Vincent A, Newland C, Brueton L, et al. Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen. Lancet 1995; 346: 24–5.
- Ferrero S, Pretta S, Nicoletti A, Petrera P, Ragni N. Myasthenia gravis: management issues during pregnancy. Eur J Obstet Gynecol Reprod Biol 2005; 121: 129–38.
- Batocchi AP, Majolini L, Evoli A, Lino MM, Minisci C, Tonali P. Course and treatment of myasthenia gravis during pregnancy. Neurology 1999; 52: 447–52.
- Motomura M, Johnston I, Lang B, Vincent A, Newsom-Davis J. An improved diagnostic assay for Lambert-Eaton myasthenic syndrome. J Neurol Neurosurg Psychiatry 1995; 58: 85–7.
- Wirtz PW, Sotodeh M, Nijnuis M, et al. Difference in distribution of muscle weakness between myasthenia gravis and the Lambert-Eaton myasthenic syndrome. J Neurol Neurosurg Psychiatry 2002; 73: 766–8.
- Wirtz PW, Willcox N, van der Slik AR, et al. HLA and smoking in prediction and prognosis of small cell lung cancer in autoimmune Lambert-Eaton myasthenic syndrome. J Neuroimmunol 2005; 159: 230–7.
- Maddison P, Newsom-Davis J. Treatment for Lambert-Eaton myasthenic syndrome. Cochrane Database Syst Rev 2003; CD003279.
- McEvoy KM, Windebank AJ, Daube JR, Low PA. 3,4-Diaminopyridine in the treatment of Lambert-Eaton myasthenic syndrome. N Engl J Med 1989; 321: 1567–71.
- Maddison P, Newsom-Davis J, Mills KR, Souhami RL. Favourable prognosis in Lambert-Eaton myasthenic syndrome and small-cell lung carcinoma. Lancet 1999; 353: 117–8.
- Vedeler CA, Antoine JC, Giometto B, et al. Management of paraneoplastic neurological syndromes: report of an EFNS Task Force. Eur J Neurol 2006; 13: 682–90.
- Hart IK, Maddison P, Newsom-Davis J, Vincent A, Mills KR. Phenotypic variants of autoimmune peripheral nerve hyperexcitability. Brain 2002; 125: 1887–95.
- Hart IK, Waters C, Vincent A, et al. Autoantibodies detected to expressed K+ channels are implicated in neuromyotonia. Ann Neurol 1997; 41: 238–46.
- Newsom-Davis J, Mills KR. Immunological associations of acquired neuromyotonia (Isaacs' syndrome). Report of five cases and literature review. Brain 1993; 116 (Pt 2): 453–69.
- Liguori R, Vincent A, Clover L, et al. Morvan's syndrome: peripheral and central nervous system and cardiac involvement with antibodies to voltage-gated potassium channels. Brain 2001; 124: 2417–26.
- Hayat GR, Kulkantrakorn K, Campbell WW, Giuliani MJ. Neuromyotonia: autoimmune pathogenesis and response to immune modulating therapy. J Neurol Sci 2000; 181: 38–43.
- Shillito P, Molenaar PC, Vincent A, et al. Acquired neuromyotonia: evidence for autoantibodies directed against K+ channels of peripheral nerves. Ann Neurol 1995; 38: 714–22.
- Alessi G, De Reuck J, De Bleecker J, Vancayzeele S. Successful immunoglobulin treatment in a patient with neuromyotonia. Clin Neurol Neurosurg 2000; 102: 173–5.
- Nakatsuji Y, Kaido M, Sugai F, et al. Isaacs' syndrome successfully treated by immunoadsorption plasmapheresis. Acta Neurol Scand 2000; 102: 271–3.