Diagnosis and therapy of myasthenia gravis with antibodies to muscle-specific kinase |
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| Authors: | Amelia Evoli Luca Padua |
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| Affiliation: | 1. Institute of Neurology, Catholic University, Largo F. Vito 1, 00168 Roma, Italy;2. Fondazione Don Carlo Gnocchi Onlus, Piazzale Morandi 6, 20121 Milano, Italy;1. Department of Dermatology, Second University of Naples, via S. Pansini, 5 - 80131 Naples, Italy;2. Dermatology Unit, Kaplan Medical Center, Rehovot 76100 Israel; The School of Medicine, Hebrew University and Hadassah Medical Center, Jerusalem, Israel;1. Department of Clinical Neurology, Queen''s Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK;2. Queen Elizabeth Neuroscience Centre and Centre for Rare Diseases, University Hospitals Birmingham, B15 2TH, UK;3. Nuffield Department of Clinical Neurosciences,West Wing, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK;1. Department of Neuromicrobiology, National Institute of Mental Health and Neurosciences, Hosur Road, Bangalore 560029, India;2. Department of Neurology, National Institute of Mental Health and Neurosciences, Hosur Road, Bangalore 560029, India;1. Department of Clinical Neuroscience, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan;2. Department of Hematology, Endocrinology and Metabolism, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan;3. Division of Transfusion Medicine and Cell Therapy, Tokushima University Hospital, Tokushima, Japan |
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| Abstract: | Myasthenia gravis (MG) with antibodies to the muscle-specific receptor tyrosine kinase (MuSK-MG) is a rare disease which covers 5–8% of all MG patients. Symptoms are nearly always generalized, though more focal than in MG with anti-acetylcholine receptor antibodies, with predominant involvement of cranial, bulbar and axial muscles; early respiratory crises are frequent. Focal atrophy, mostly of facial, masseter and tongue muscles, occurs in a proportion of patients. Diagnosis is often challenging on account of atypical presentation with little or no symptom fluctuations, lack of response to acetylcholinesterase inhibitors in a high proportion of patients and negative results of electrodiagnostic studies when performed on limb muscles. Immunosuppression is the mainstay of treatment, since the response to acetylcholinesterase inhibitors is generally unsatisfactory and thymectomy does not appear to improve the course of the disease. Although corticosteroids result in marked improvement, disease flares are frequent during prednisone dosage tapering and most patients remain dependent on treatment. Since treatment with rituximab, in uncontrolled studies, induced sustained benefit in patients with refractory disease, B cell depletion is an attractive option for MuSK-MG patients unresponsive to conventional immunosuppressants. |
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