Myasthenia gravis

Nils Erik Gilhus; Socrates Tzartos; Amelia Evoli; Jacqueline Palace; Ted M Burns; Jan J G M Verschuuren

doi:10.1038/s41572-019-0079-y

Myasthenia gravis

Nat Rev Dis Primers. 2019 May 2;5(1):30. doi: 10.1038/s41572-019-0079-y.

Authors

Nils Erik Gilhus^{1

2}, Socrates Tzartos³, Amelia Evoli^{4

5}, Jacqueline Palace⁶, Ted M Burns⁷, Jan J G M Verschuuren⁸

Affiliations

¹ Department of Clinical Medicine, University of Bergen, Bergen, Norway. [email protected].
² Department of Neurology, Haukeland University Hospital, Bergen, Norway. [email protected].
³ Department of Neurobiology, Hellenic Pasteur Institute and Tzartos NeuroDiagnostics, Athens, Greece.
⁴ Istituto di Neurologia, Fondazione Policlinico A. Gemelli, IRCCS, Rome, Italy.
⁵ Università Cattolica del Sacro Cuore, Rome, Italy.
⁶ Nuffield Department of Clinical Neurosciences, University of Oxford, Hospitals Trust, Oxford, UK.
⁷ Department of Neurology, University of Virginia, Charlottesville, VA, USA.
⁸ Department of Neurology, Leiden University Medical Centre, Leiden, Netherlands.

PMID: 31048702
DOI: 10.1038/s41572-019-0079-y

Abstract

Myasthenia gravis (MG) is an autoimmune disease caused by antibodies against the acetylcholine receptor (AChR), muscle-specific kinase (MuSK) or other AChR-related proteins in the postsynaptic muscle membrane. Localized or general muscle weakness is the predominant symptom and is induced by the antibodies. Patients are grouped according to the presence of antibodies, symptoms, age at onset and thymus pathology. Diagnosis is straightforward in most patients with typical symptoms and a positive antibody test, although a detailed clinical and neurophysiological examination is important in antibody-negative patients. MG therapy should be ambitious and aim for clinical remission or only mild symptoms with near-normal function and quality of life. Treatment should be based on MG subgroup and includes symptomatic treatment using acetylcholinesterase inhibitors, thymectomy and immunotherapy. Intravenous immunoglobulin and plasma exchange are fast-acting treatments used for disease exacerbations, and intensive care is necessary during exacerbations with respiratory failure. Comorbidity is frequent, particularly in elderly patients. Active physical training should be encouraged.

Publication types

Review

MeSH terms

Acetylcholinesterase / genetics
Acetylcholinesterase / physiology
Adrenal Cortex Hormones / therapeutic use
Agrin / genetics
Agrin / physiology
Anti-Inflammatory Agents, Non-Steroidal / therapeutic use
Autoantibodies / analysis
Autoantibodies / blood
Biomarkers / analysis
Biomarkers / blood
Blepharoptosis / etiology
Collagen / genetics
Collagen / physiology
Cortactin / genetics
Cortactin / physiology
Electromyography / methods
Humans
Kv1.4 Potassium Channel / genetics
Kv1.4 Potassium Channel / physiology
LDL-Receptor Related Proteins / genetics
LDL-Receptor Related Proteins / physiology
Muscle Proteins / genetics
Muscle Proteins / physiology
Myasthenia Gravis / diagnosis*
Myasthenia Gravis / physiopathology
Myasthenia Gravis / therapy*
Receptor Protein-Tyrosine Kinases / genetics
Receptor Protein-Tyrosine Kinases / physiology
Receptors, Cholinergic / genetics
Receptors, Cholinergic / physiology
Receptors, Nicotinic / genetics
Risk Factors
Ryanodine Receptor Calcium Release Channel / genetics
Ryanodine Receptor Calcium Release Channel / physiology

Substances

Adrenal Cortex Hormones
Agrin
Anti-Inflammatory Agents, Non-Steroidal
Autoantibodies
Biomarkers
Cortactin
KCNA4 protein, human
Kv1.4 Potassium Channel
LDL-Receptor Related Proteins
LRP4 protein, human
Muscle Proteins
Receptors, Cholinergic
Receptors, Nicotinic
Ryanodine Receptor Calcium Release Channel
Collagen
MUSK protein, human
Receptor Protein-Tyrosine Kinases
Acetylcholinesterase
COLQ protein, human