Forehead Tremor: A Clinical Presentation of Myasthenia Gravis?
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SUBMITTER: Sciacca G
PROVIDER: S-EPMC6336434 | biostudies-literature | 2018 Mar-Apr
REPOSITORIES: biostudies-literature
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Forehead Tremor: A Clinical Presentation of Myasthenia Gravis?
Sciacca Giorgia G Reggio Ester E Donzuso Giulia G Nicoletti Alessandra A Drago Filippo F Salomone Salvatore S Zappia Mario M
Movement disorders clinical practice 20180218 2
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Project description:Myasthenia gravis (MG) is the archetypic disorder of both the neuromuscular junction and autoantibody-mediated disease. In most patients, IgG1-dominant antibodies to acetylcholine receptors cause fatigable weakness of skeletal muscles. In the rest, a variable proportion possesses antibodies to muscle-specific tyrosine kinase while the remainder of seronegative MG is being explained through cell-based assays using a receptor-clustering technique and, to a lesser extent, proposed new antigenic targets. The incidence and prevalence of MG are increasing, particularly in the elderly. New treatments are being developed, and results from the randomised controlled trial of thymectomy in non-thymomatous MG, due for release in early 2016, will be of particular clinical value. To help navigate an evidence base of varying quality, practising clinicians may consult new MG guidelines in the fields of pregnancy, ocular and generalised MG (GMG). This review focuses on updates in epidemiology, immunology, therapeutic and clinical aspects of GMG in adults.
| S-EPMC4826656 | biostudies-other
Project description:Myasthenia gravis (MG) is often complicated by respiratory failure, an exacerbation known as myasthenic crisis. However, most patients with MG develop respiratory symptoms during the late course of the disease. Respiratory failure as an exclusive initial and primary complaint in patients with MG is rare and seldom reported. We herein describe a woman in her late 50s who presented with respiratory failure and was diagnosed with obesity hypoventilation syndrome at a local hospital. Her condition gradually worsened during the next 4 months and became accompanied by dysphagia. After 1 year of medical investigation, she was diagnosed in our hospital. A high level of anti-muscle-specific receptor tyrosine kinase antibody was found in her serum, and stimulation and electromyography results suggested MG. The patient's symptoms were improved by intravenous immunoglobulin and hormone therapy. This case reminds physicians to consider MG when encountering a patient who initially presents with respiratory failure.
| S-EPMC10916481 | biostudies-literature
Project description:Background Myasthenia gravis (MG) is an autoimmune disorder with fluctuating muscle weakness, divided into generalized and localized (ocular) forms. Maternal antibodies to acetylcholine receptors cross the placenta and may cause transient neonatal myasthenia gravis (TNMG). We present a case of seronegative maternal ocular MG and delayed TNMG. Case A 29-year-old G3P1011 underwent cesarean birth of a male infant who developed oxygen desaturation requiring supplemental oxygen on day of life (DOL) 3. Based on the clinical course and after exclusion of other diagnoses, the infant was diagnosed with TNMG. Infant's condition improved spontaneously and he was weaned off supplemental oxygen and discharged home on DOL 12. Conclusion Infants born to mothers with seronegative localized (ocular) MG are also susceptible to TNMG which may be late in onset.
| S-EPMC4794443 | biostudies-other
Project description:Forehead tremor has only been reported in two patients with essential tremor, one with rhythmic tremor and the other with dystonic tremor. We report 4 new patients with essential tremor who present a 4-6?Hz frontal tremor registered by electromyography and unusual features like frontal tremor preceding limb tremor or unilateral involvement. Frontal tremor is present in some patients with essential tremor, sometimes preceding limb tremor. Treatment with botulinum toxin may be useful.
| S-EPMC3420609 | biostudies-literature
Project description:Myasthenia gravis (MG) is an autoimmune disease affecting the neuromuscular junction, whose clinical hallmark is muscle weakness and early fatigability. Azathioprine (AZA) is commonly used in Myasthenia Gravis therapy. AZA is a purine antagonist, which inhibits the cell cycle in the resting and DNA synthesis phases. It is usually used as an immunosuppressant to block T- and B-cell proliferation. AZA, bioconverted to 6-mercaptopurine by glutathione S-transferase (GST), can be metabolized either through the hypoxanthine phosphoribosyl transferase pathway to active 6-thioguanine nucleotides (6-TGN) or through the thiopurine S-methyltransferase (TPMT) pathway to inactive methyl-thiopurine metabolites. The incorporation of active 6-TGNs into DNA, causing breaks in DNA strands resulting in interference with RNA production and thereby protein synthesis, is responsible for the drug effect. The response to AZA is determined by which metabolic pathway is being favored. While balanced use of both HPRT and TPMT pathways results in responsiveness to AZA, hyperactivity of TPMT skews the balance towards the TPMT pathway and results in unresponsiveness to AZA with no pharmacological effect. In contrast, low TPMT activity skews the balance towards the HPRT pathway, resulting in increasing side-effects due to the accumulation of 6-TGNs. Current treatments for MG therapy are often inadequate because less than 40% of patients achieve complete remission with available drugs. This reflects the lack of drugs acting on target sites for which there is strong evidence of pathogenicity and the inability to identify responder patients. No criteria for responsiveness are available, exposing patients to unpredictable failures and unpredictable side effects. These individuals are at particular risk for adverse drug reaction (ADRs) or therapeutic failure. Genetic profiling with the Affymetrix drug metabolizing enzymes and transports genotyping array offers the ability to determine 1,931 variants and 225 genes involved in drug metabolism and disposition. Accordingly, the study of well-known drug-metabolizing genes can be involved in the specific metabolic pathway of a drug, which is more likely to define genotype-phenotype association and thereby genotype profiles relevant to drug response that can be applied as predictive biomarkers for pharmacological treatment.
2016-05-01 | E-MTAB-4489 | biostudies-arrayexpress
Project description:BACKGROUND:To investigate the frequency and characterize the clinical features of treatment-refractory myasthenia gravis in an Austrian cohort. METHODS:Patient charts of 126 patients with generalized myasthenia gravis and onset between 2000 and 2016 were analyzed retrospectively. Patients were classified as treatment-refractory according to strict, predefined criteria. These mandated patients being at least moderately symptomatic (i.e., MGFA class III) or needing either maintenance immunoglobulins or plasma exchange therapy for at least 1 year in spite of two adequately dosed immunosuppressive drugs. Clinical features and outcome at last follow-up were compared to treatment-responsive patients. RESULTS:14 out of 126 patients (11.1%) met these criteria of treatment-refractory myasthenia gravis. Treatment-refractory patients had more frequent clinical exacerbations and more often received rescue treatments or a further escalation of immunosuppressive therapies. They also remained more severely affected at last follow-up. An early onset of myasthenia gravis was associated with a higher risk for a refractory course. CONCLUSION:A small subgroup of patients with generalized myasthenia gravis do not respond sufficiently to standard therapies. Refractory disease has considerable implications for both patients and health care providers and highlights an unmet need for new treatment options.
| S-EPMC7109164 | biostudies-literature
Project description:IntroductionPatients with myasthenia gravis (MG) are prone to the development of pneumonia due to the long-term immunotherapies they receive and a tendency for aspiration. Pneumonia remains a risk factor for MG worsening and is the most prevalent cause of mortality in MG patients. Classification of the pathogens involved and exploration of the risk factors for mechanical ventilation (MV) could aid in improving clinical outcomes.MethodsBetween January 2013 and October 2022, we performed an inpatient database review for MG patients with pneumonia concurrence in a tertiary research center specializing in neuromuscular disorders. The clinical and microbiological characteristics of 116 MG patients with pneumonia were retrospectively analyzed.ResultsIn our cohort, 90.32% (112/124) of organisms were bacteria and 42.86% (48/112) of pathogenic bacteria were carbapenem-resistant. A high abundance of Epstein-Barr virus (EBV) was detected using next-generation sequencing (NGS) in 12 patients, while cytomegalovirus (CMV) was detected in 8 patients. Non-fermentative Gram-negative bacilli were the most prevalent microorganisms, in which ampicillin, sulfamethoxazole-trimethoprim (SMZ-TMP), piperacillin, cefoperazone, ceftazidime, and cefepime may have an anti-infectious effect. Moreover, peripheral lymphocyte percentage [odds ratio (OR) 0.88, 95% CI 0.75-0.96, p = 0.02] and serum globulin (OR 1.16, 95% CI 1.02-1.35, p = 0.03) were significantly associated with the risk of MV demand.DiscussionOur identification of the microbial etiology of pneumonia in MG patients may provide future perspectives on accurate antibiotic options and enable early interventions when risk factors are present.
| S-EPMC9780595 | biostudies-literature
Project description:Myasthenia gravis (MG) is the most common immune-mediated disorder of the neuromuscular junction. Anti-acetylcholine receptor (anti-AChR), anti-muscle-specific kinase (anti-MuSK), and anti-lipoprotein receptor-related protein 4 (anti-LRP4) antibodies are the three well-defined pathogenic antibodies. Patients with MG can also have other antibodies, such as anti-titin, anti-ryanodine receptor (anti-RyR), anti-Agrin and anti-KV1.4 antibodies. Since MG is heterogeneous in terms of pathophysiology, antibody status, and other factors, serological tests are crucial for clinical diagnosis confirmation and treatment choice. Herein, we review the different methods for detection of various antibodies involved in MG and their sensitivity and specificity. The understanding of these elements should be useful for improving the diagnosis and determining how to adapt the existing therapies to the requirements of each patient.
| S-EPMC10116419 | biostudies-literature
Project description:IntroductionLabor-market participation is potentially very difficult for patients with refractory myasthenia gravis (MG). In this study, employment status and work absences are compared between refractory and nonrefractory MG.MethodsAdults (aged 18-64?years, all diagnosed ?2?years previously) were included if enrolled in the Myasthenia Gravis Foundation of America Patient Registry during July 2013 to February 2018.ResultsSeventy-six patients (9.2%) had refractory and 749 (90.8%) had nonrefractory disease; demographic data did not differ between groups. Relative to the nonrefractory group, the refractory group patients were more than twice as likely to work fewer hours per week (odds ratio [95% confidence interval]: currently employed, 2.777 [1.640-4.704]; employed over previous 6?months, 2.643 [1.595-4.380]), but those employed were not more likely to be absent from work.DiscussionBecause absence from the labor market adversely affects quality of life and personal finances, these findings reaffirm the considerable disease burden associated with refractory MG.
| S-EPMC6900169 | biostudies-literature
Project description:Myasthenia gravis (MG) is a heterogeneous disorder whose clinical presentation ranges from mild ocular deficits to severe widespread weakness. This variance poses a challenge when quantifying clinical deficits. Deficits and symptoms are quantified using standardized clinical scales and questionnaires which are often used as outcome measures. The past decades have seen the development of several validated outcome measures in MG, which are used in clinical trials to obtain regulatory approval. In recent years, emphasis has moved from objective assessments to patient-reported outcomes. Despite a growing body of literature on the validity of the MG-specific outcome measures, several unresolved factors remain. As several novel therapeutics are currently in clinical development, knowledge about capabilities and limitations of outcome measures is needed. In the present paper, we describe the most widely used clinical classifications and scales in MG. We highlight the choice of outcome measures in published and ongoing trials, and we denote whether trial efficacy was reached on these outcomes. We discuss advantages and limitations of the individual scales, and discuss some of the unresolved factors relating to outcome assessments in MG.
| S-EPMC7793650 | biostudies-literature