Autoimmune myasthenia gravis: emerging clinical and biological heterogeneity.
Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction in which patients experience fluctuating skeletal muscle weakness that often affects selected muscle groups preferentially. The target of the autoimmune attack in most cases is the skeletal muscle acetylcholine receptor (AChR), but in others, non-AChR components of the neuromuscular junction, such as the muscle-specific receptor tyrosine kinase, are targeted. The pathophysiological result is muscle endplate dysfunction and consequent fatigable muscle weakness. Clinical presentations vary substantially, both for anti-AChR positive and negative MG, and accurate diagnosis and selection of effective treatment depends on recognition of less typical as well as classic disease phenotypes. Accumulating evidence suggests that clinical MG subgroups might respond differently to treatment. In this Review, we provide current information about the epidemiology, immunopathogenesis, clinical presentations, diagnosis, and treatment of MG, including emerging therapeutic strategies.
Department of Neurology and Rehabilitation, College of Medicine, University of Illinois at Chicago, Chicago, IL 60612, USA. mmerig@uic.edu
Matthew N
MN
Meriggioli
Donald B
DB
Sanders
D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000367:Age Factors; D017668:Age of Onset; D002800:Cholinesterase Inhibitors / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007167:Immunotherapy; D008297:Male; D009157:Myasthenia Gravis / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology / Q000628:therapy; D015213:Neuroimmunomodulation / Q000502:physiology; D009469:Neuromuscular Junction / Q000503:physiopathology; D020794:Receptor Protein-Tyrosine Kinases / Q000276:immunology; D011950:Receptors, Cholinergic / Q000276:immunology; D012737:Sex Factors; D013934:Thymectomy
D000305:Adrenal Cortex Hormones; D002800:Cholinesterase Inhibitors; D007166:Immunosuppressive Agents; D011950:Receptors, Cholinergic; C095714:MUSK protein, human; D020794:Receptor Protein-Tyrosine Kinases