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Medicina (Kaunas, Lithuania) Nov 2021Myasthenia gravis (MG) is an autoimmune condition, that commonly impacts adult women of reproductive age. Myasthenia gravis in pregnancy is rare, but the incidence is... (Review)
Review
Myasthenia gravis (MG) is an autoimmune condition, that commonly impacts adult women of reproductive age. Myasthenia gravis in pregnancy is rare, but the incidence is higher in different geographical areas. Pregnancies in mothers with MG can have an unfortunate outcome. Acetylcholine receptor antibodies may pass into the fetal circulation and can affect the fetal neuromuscular junction, generating transient MG or even fetal arthrogryposis. The 2016 and 2021 International Consensus Guidance for Management of Myasthenia Gravis issued by Myasthenia Gravis Foundation of America is lacking in recommendation for fetal surveillance for pregnancies in women with MG. The aim of this paper is to highlight fetal and neonatal complications in mothers with MG and to offer antenatal care insights. Close maternal and pregnancy monitoring can improve pregnancy outcome. Patients with MG should be encouraged to conceive, to avoid triggers for exacerbations of the disease during pregnancy and a multidisciplinary team should be established to ensure the optimal support and therapy.
Topics: Adult; Autoantibodies; Female; Humans; Infant, Newborn; Mothers; Myasthenia Gravis; Pregnancy; Prenatal Care; Receptors, Cholinergic
PubMed: 34833495
DOI: 10.3390/medicina57111277 -
Orphanet Journal of Rare Diseases Nov 2007Myasthenia gravis (MG) is a rare, autoimmune neuromuscular junction disorder. Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating,... (Review)
Review
Myasthenia gravis (MG) is a rare, autoimmune neuromuscular junction disorder. Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscle groups. Ocular weakness with asymmetric ptosis and binocular diplopia is the most typical initial presentation, while early or isolated oropharyngeal or limb weakness is less common. The course is variable, and most patients with initial ocular weakness develop bulbar or limb weakness within three years of initial symptom onset. MG results from antibody-mediated, T cell-dependent immunologic attack on the endplate region of the postsynaptic membrane. In patients with fatigable muscle weakness, the diagnosis of MG is supported by: 1. pharmacologic testing with edrophonium chloride that elicits unequivocal improvement in strength; 2. electrophysiologic testing with repetitive nerve stimulation (RNS) studies and/or single-fiber electromyography (SFEMG) that demonstrates a primary postsynaptic neuromuscular junctional disorder; and 3. serologic demonstration of acetylcholine receptor (AChR) or muscle-specific tyrosine kinase (MuSK) antibodies. Differential diagnosis includes congenital myasthenic syndromes, Lambert Eaton syndrome, botulism, organophosphate intoxication, mitochondrial disorders involving progressive external ophthalmoplegia, acute inflammatory demyelinating polyradiculoneuropathy (AIDP), motor neuron disease, and brainstem ischemia. Treatment must be individualized, and may include symptomatic treatment with cholinesterase inhibitors and immune modulation with corticosteroids, azathioprine, cyclosporine, and mycophenolate mofetil. Rapid, temporary improvement may be achieved for myasthenic crises and exacerbations with plasma exchange (PEX) or intravenous immunoglobulin (IVIg). Owing to improved diagnostic testing, immunotherapy, and intensive care, the contemporary prognosis is favorable with less than five percent mortality and nearly normal life expectancy.
Topics: Diagnosis, Differential; Humans; Myasthenia Gravis
PubMed: 17986328
DOI: 10.1186/1750-1172-2-44 -
Medecine Sciences : M/S Nov 2017
Review
Topics: Autoantibodies; Diagnosis, Differential; Humans; LDL-Receptor Related Proteins; Myasthenia Gravis; Receptor Protein-Tyrosine Kinases; Receptors, Cholinergic; Serologic Tests
PubMed: 29139384
DOI: 10.1051/medsci/201733s107 -
Developmental Medicine and Child... Aug 2007In recent years, understanding of the pathogenesis and clinical presentation of distinct myasthenia subtypes has increased significantly. This article reviews the... (Review)
Review
In recent years, understanding of the pathogenesis and clinical presentation of distinct myasthenia subtypes has increased significantly. This article reviews the clinical manifestations of autoimmune myasthenia gravis (including myasthenia associated with anti-muscle-specific kinase antibodies), ocular myasthenia, and antibody negative myasthenia. The following treatments are examined: cholinesterase inhibitors, immunosuppressants, and thymectomy. Inherited congenital myasthenic syndromes (CMS) are now increasingly recognized, and most commonly present during childhood. This article outlines the presynaptic, synaptic basal lamina-associated, and postsynaptic classification of CMS and the clinical presentation and aetiology of individual syndromes. Relevant investigations and treatment options (including the role of pyridostigmine, 3,4-diaminopyridine, fluoxetine, and ephedrine) are discussed.
Topics: Humans; Myasthenia Gravis; Pediatrics; Practice Guidelines as Topic
PubMed: 17635211
DOI: 10.1111/j.1469-8749.2007.00629.x -
Frontiers in Pediatrics 2022Myasthenia gravis is an organ-specific autoimmune disease. Currently there is no universal guidelines for childhood-onset myasthenia gravis, therefore, treatment...
Myasthenia gravis is an organ-specific autoimmune disease. Currently there is no universal guidelines for childhood-onset myasthenia gravis, therefore, treatment strategies are usually based on the guidelines from adult myasthenia gravis patients. In order to contribute in the process of the development of the universal childhood-onset myasthenia gravis guideline, we have summarized the clinical characteristics, treatment strategies, outcome and the related predictors of childhood-onset myasthenia gravis. We recruited 343 childhood-onset myasthenia gravis cases who were followed up at the Department of Pediatrics, Xiangya Hospital from June, 2010 to December, 2019. The data about clinical characteristics, treatments and outcome were collected and analyzed. Among of the 343 cases, 164 cases were followed up for longer than 2 years, of whom 142 still remained with ocular myasthenia gravis at the endpoint. About the treatments, 27 cases (27/164) accepted pyridostigmine only while the rest accepted glucocorticoid and/or other immunosuppressants. At the endpoint, the proportion of optimal outcome was 66.2% in the group remaining with ocular myasthenia gravis and 31.8% in the generalized myasthenia gravis group. Multivariate logistic regression analysis revealed that generalized myasthenia gravis type and positive status of antibodies against acetylcholine receptors were the independent risk factors for poor outcome. In conclusion, our childhood-onset myasthenia gravis patients present mainly as ocular myasthenia gravis, adequate immunotherapy improve the long-term outcome, and generalized myasthenia gravis phenotype as well as positive status of antibodies against acetylcholine receptors relate to poor outcome.
PubMed: 36245736
DOI: 10.3389/fped.2022.996213 -
Indian Journal of Pathology &... 2022Myasthenia gravis (MG) is a prototypic T-cell-dependent antibody-mediated autoimmune disease that leads to ocular or generalized muscular weakness. The disease is most...
BACKGROUND
Myasthenia gravis (MG) is a prototypic T-cell-dependent antibody-mediated autoimmune disease that leads to ocular or generalized muscular weakness. The disease is most commonly caused by antibodies to the acetylcholine receptors, often with underlying thymic pathology.
AIMS
This study is aimed at analyzing the pathological spectrum of the excised thymuses in patients with myasthenia.
MATERIALS AND METHODS
This was a retrospective 10-year study of 68 thymectomy specimens performed as a part of the treatment of patients with MG.
STATISTICAL ANALYSIS
Nil.
RESULTS
There were 47 males and 21 females (male to female ratio of 2.2:1) with a mean age of 41 years. Only three patients presented with ocular myasthenia. The thymus was normal in 9 patients (13.2%) and atrophic in 17 patients (25%). Follicular hyperplasia and thymomas were seen in 6 and 36 patients, respectively.
CONCLUSION
The thymectomies performed in patients of MG had a fairly variable spectrum on histology; the thymic tumors were predominantly of the cortical phenotype.
Topics: Adolescent; Adult; Aged; Female; Histological Techniques; Humans; Male; Middle Aged; Myasthenia Gravis; Retrospective Studies; Thymectomy; Thymoma; Young Adult
PubMed: 35074977
DOI: 10.4103/IJPM.IJPM_935_20 -
Wiadomosci Lekarskie (Warsaw, Poland :... 2021The aim: To evaluate the relationship of certain alleles of HLA class II leukocyte antigens and the profile of antibodies to various subunits of nicotinic acetylcholine...
OBJECTIVE
The aim: To evaluate the relationship of certain alleles of HLA class II leukocyte antigens and the profile of antibodies to various subunits of nicotinic acetylcholine receptors (nAChR), the level of Treg lymphocytes and the serum concentration of anti-inflammatory IL-10 for various clinical myasthenia gravis phenotypes.
PATIENTS AND METHODS
Materials and methods: We examined 217 patients with thymus-independent myasthenia (n = 42) and thymus-dependent myasthenia, among them patients with thymus hyperplasia (n = 108) and thymoma (n = 67). We used the following methods: ELISA, flow cytometry, light and fluorescence microscopy.
RESULTS
Results: Certain genomic (polymorphism of leukocyte HLA-DR antigens) and epigenomic (antibodies to α1 and α7 nAChR subunits, expression of Treg lymphocytes and concentration of cytokines) predictors were identified for various myasthenia phenotypes. The presence of HLA haplotypes DR2 and DR7 in some young patients with M with disease progression led to the development of myasthenia gravis with thymoma (MT) at an older age. The presence of α7 nAChR subunit on thymocyte mitochondria was revealed, which is an additional autoimmune target for autoantibodies in patients with myasthenia gravis. An increase in the concentration of cytokines (IL-4, IL-8, IFN-γ) in all patients with myasthenia gravis was revealed.
CONCLUSION
Conclusions: Estimate the features of the formation of various variants of the immune response in thymus-independent and thymus-dependent myasthenia gravis is a necessary condition for targeted immunocorrection or surgery.
Topics: Aged; Autoantibodies; Epigenomics; Genomics; Humans; Myasthenia Gravis; Phenotype; Thymus Neoplasms
PubMed: 33813453
DOI: No ID Found -
Cureus Nov 2021Myasthenia gravis affects the neuromuscular junction of the skeletal muscles. It results in muscle weakness involving skeletal muscles (diaphragm, extraocular muscles)... (Review)
Review
Myasthenia gravis affects the neuromuscular junction of the skeletal muscles. It results in muscle weakness involving skeletal muscles (diaphragm, extraocular muscles) and myasthenic crisis. Treatment options for myasthenia gravis management have expanded, including azathioprine, corticosteroids, plasma exchange, and tacrolimus. Unfortunately, a few cases of myasthenia gravis don't respond to conventional treatment modalities. Monoclonal antibodies, rituximab (RTX), are novel treatments that have garnered interest as of late due to their efficacy within the patient population presented with refractory form myasthenia gravis. This review aims to showcase how RTX is an effective treatment within different forms of myasthenia gravis. A limited review was performed using databases that include PubMed and Google Scholar. The following keywords were used: "myasthenia gravis," "rituximab," "monoclonal antibody," "anti-AChR antibody," and "refractory myasthenia." The review focused on case reports, human studies, or research surveys based on the inclusion criteria of human studies involving participants more than 18 years of age and published in English literature. Out of 69 articles, 14 were duplicates, and 29 were relevant and met the inclusion criteria. The findings from the study demonstrate that patients with refractory myasthenia gravis responded well to RTX treatment. Furthermore, RTX has been shown to decrease corticosteroid dependence, induce sustained remission, and have a favorable response to anti-MuSK antibody positive myasthenia gravis compared to anti-AChR antibody positive myasthenia gravis. This literature review suggests that patients with refractory myasthenia gravis can benefit from rituximab; however, it has a variable response in different forms of myasthenia gravis.
PubMed: 34909332
DOI: 10.7759/cureus.19416 -
Arquivos de Neuro-psiquiatria Sep 2016
Topics: Diagnosis, Differential; Humans; Mutation; Myasthenia Gravis; Myasthenic Syndromes, Congenital; Neurology
PubMed: 27706415
DOI: 10.1590/0004-282X20160134 -
Frontiers in Neurology 2020Timely and accurate diagnosis of myasthenia gravis, particularly in patients with fluctuating, isolated ocular involvement, remains challenging. Serological antibody... (Review)
Review
Timely and accurate diagnosis of myasthenia gravis, particularly in patients with fluctuating, isolated ocular involvement, remains challenging. Serological antibody testing and repetitive nerve stimulation of peripheral muscles usually have low sensitivity in these patients. Edrophonium testing may cause adverse events, single-fiber electromyography (SFEMG) is time-consuming and both tests are often unavailable outside specialized institutions. Repetitive ocular vestibular evoked myogenic potential (roVEMP) stimulation has recently been introduced to facilitate the diagnosis of myasthenia gravis. Similar to repetitive nerve stimulation, roVEMPs detect muscle decrements with the benefit of being non-invasive and allowing for direct measurement of the extraocular muscles. This review summarizes the clinical evidence of the diagnostic value of roVEMP for myasthenia. Prospective clinical trials have demonstrated high sensitivity and specificity. RoVEMPs are of particular interest in challenging myasthenia subgroups with isolated ocular involvement, negative serology, and/or negative conventional electrophysiological results. Optimal roVEMP repetition rates of 20-30 Hz have been identified. This promising novel diagnostic tool merits further attention and investigation to establish its value as a clinical test for myasthenia.
PubMed: 32903498
DOI: 10.3389/fneur.2020.00861