Advancing research in autoimmune neuromuscular disorders

Abstract

A new Series on autoimmune neuromuscular disorders in The Lancet Neurology comprises three Reviews 1 Huijbers MG Marx A Plomp JJ Le Panse R Phillips WD Advances in the understanding of disease mechanisms of autoimmune neuromuscular junction disorders. Lancet Neurol. 2022; 21: 163-175 Google Scholar , 2 Verschuuren JJGM Palace J Murai H Tannemaat M Kaminski HJ Bril V Advances and ongoing research in the treatment of autoimmune neuromuscular junction disorders. Lancet Neurol. 2022; 21: 189-202 Google Scholar , 3 Punga AR Maddison P Heckmann JM et al. Epidemiology, diagnostics, and biomarkers of autoimmune neuromuscular junction disorders. Lancet Neurol. 2022; 21: 176-188 Google Scholar that altogether provide a broad overview of the current status of, and ongoing research into, the causes and treatment of myasthenia gravis and Lambert-Eaton myasthenic syndrome. The major contribution of this Series is the comprehensive information that they provide about disease mechanisms, 1 Huijbers MG Marx A Plomp JJ Le Panse R Phillips WD Advances in the understanding of disease mechanisms of autoimmune neuromuscular junction disorders. Lancet Neurol. 2022; 21: 163-175 Google Scholar new drugs in development, 2 Verschuuren JJGM Palace J Murai H Tannemaat M Kaminski HJ Bril V Advances and ongoing research in the treatment of autoimmune neuromuscular junction disorders. Lancet Neurol. 2022; 21: 189-202 Google Scholar and known and potential biomarkers. 3 Punga AR Maddison P Heckmann JM et al. Epidemiology, diagnostics, and biomarkers of autoimmune neuromuscular junction disorders. Lancet Neurol. 2022; 21: 176-188 Google Scholar Advances and ongoing research in the treatment of autoimmune neuromuscular junction disordersMyasthenia gravis and Lambert-Eaton myasthenic syndrome are antibody-mediated autoimmune diseases of the neuromuscular junction that usually present with weakness in ocular muscles and in proximal muscles of the limb and trunk. Prognosis regarding muscle strength, functional abilities, quality of life, and survival is generally good. However, some patients do not respond to treatment. Symptomatic drugs, corticosteroids, and steroid-sparing immunosuppressive drugs remain the cornerstone of treatment. Full-Text PDF Advances in the understanding of disease mechanisms of autoimmune neuromuscular junction disordersMuscle weakness and fatigue are the hallmarks of autoimmune neuromuscular junction disorders. Although a plethora of immunosuppressive treatments exist, no cure is available to date and many patients are left with debilitating muscle weakness. Recent advances in the understanding of the structure and function of the neuromuscular junction, and the development of novel in vitro and in vivo models, have been instrumental in unravelling the pathophysiology of these autoimmune diseases. These advances are providing the rationale for the development of new therapeutic strategies. Full-Text PDF Epidemiology, diagnostics, and biomarkers of autoimmune neuromuscular junction disordersAutoimmune neuromuscular junction disorders are rare. However, myasthenia gravis is being increasingly recognised in people older than 50 years. In the past 5–10 years, epidemiological studies worldwide suggest an incidence of acetylcholine receptor antibody-positive myasthenia gravis of up to 29 cases per 1 million people per year. Muscle-specific tyrosine kinase antibody-positive myasthenia gravis and Lambert-Eaton myasthenic syndrome are about 20 times less common. Several diagnostic methods are available for autoimmune neuromuscular junction disorders, including serological antibody, electrophysiological, imaging, and pharmacological tests. Full-Text PDF