Myastheniagravis (MG) is an uncommon autoimmune disorder affecting the neuromuscular junction and manifesting as muscle weakness... MC can be differentiated from other neuromuscular junction diseases by the presence of normal reflexes, normal sensation, lack of autonomic symptoms, lack of fasciculations, and worsening weakness with repetitive motion. Treatment should target the inciting event and airway support.
Immune System Diseases (1) Muscle Weakness (4), Myasthenia Gravis (2), Respiratory Failure (2), more mentions
... field has seen accelerated approval of a drug for Duchenne musculardystrophy (DMD) and full approval of one for spinal muscular atrophy ... The siloing of clinical data for rare neuromusculardiseases represents a considerable barrier to achieving better care and novel therapies for patients living with neuromusculardiseases ... All rights reserved Keyword: Duchenne musculardystrophy.
Muscular and Skeletal Diseases (5) Neuromuscular Diseases (3), Duchenne Muscular Dystrophy (2), Spinal Muscular Atrophy (1), more mentions
AbstractText: We aimed to translate, culturally adapt, and assess the Arabic version of the 15-item MyastheniaGravis Quality-of-Life revised scale (MGQOL15R) AbstractText: We assessed reliability with Cronbach alpha; reproducibility with intraclass correlation coefficient (ICC); validity with Spearman correlations for MG-specific activities of daily ... Keyword: MyastheniaGravis.
AbstractText: There is limited data on the natural history of untreated myastheniagravis (MG) with ocular presentation AbstractText: We analysed 93 patients from symptom onset presenting to Birmingham Midlands Eye Centre (BMEC) from January 2004 to July 2015. We used multiple stepwise logistic regression to identify predictive factors of generalisation and Kaplan-Meier analysis on time to generalisation AbstractText: 46 ...
MyastheniaGravis (MG) is a neuromuscular junction (NMJ) disorder caused by autoantibodies against NMJ proteins. Collagen XIII is a muscle-derived transmembrane protein required for NMJ maturation. The objective of this study is to explore existence of autoantibodies to collagen XIII in MG patients.Seventy MG patient sera and 61 human healthy controls were screened for collagen XIII autoantibodies by ...
... are important to address in enhancing clinical care for patients with SBMA, and in developing tools to evaluate efficacy in future clinical trials. This article is protected by copyright. All rights reserved Keyword: Kennedy's disease. Keyword: Spinal and bulbar muscular atrophy. Keyword: androgen receptor. Keyword: inherited neuromusculardisease. Keyword: motorneurondisease. Keyword: open-ended questions. Keyword: quality of life.
Spinobulbar Muscular Atrophy (2), Neuromuscular Diseases (1), Motor Neuron Disease (1), more mentions
... To investigate the association between infection or respiratory tract disease and future risk of developing idiopathic inflammatory myopathy (IIM) AbstractText: A case-control study was performed using Swedish nationwide registers... which suggests that the triggering of the immune system may take place outside the skeletal muscle Keyword: dermatomyositis... Keyword: polymyositis.
Muscular and Skeletal Diseases (1), Oncology (1) Infections (7), Respiratory Tract Diseases (5), Idiopathic Inflammatory Myopathies (2), more mentions
... tacrolimus, response to tacrolimus was measured by the improvement in myositis, ILD, and change in the dose of glucocorticoids AbstractText: Thirty ... conventional treatment based on the predefined variables of improvement in myositis and/or ILD. Patients with polymyositis (PM)-ILD were more likely to respond to conventional treatment than those with dermatomyositis (DM)-ILD (67% vs 35%, p = 0.013 ...
Myositis (5), Interstitial Lung Diseases (2), Polymyositis (1), more mentions
AbstractText: Instrumenting timed functional motor tasks may reveal a continuum of motor disability that predicts future motor dysfunction AbstractText: We performed a prospective study of the instrumented timed up and go (iTUG) test in genetically confirmed facioscapulohumeral musculardystrophy (FSHD) participants utilizing a commercially available system of wireless motion sensors.
Muscular and Skeletal Diseases (2) Facioscapulohumeral Muscular Dystrophy (2), more mentions
... To analyze gastrointestinal (GI) manifestations, their progression over time, and medications being used to treat GI symptoms in a large cohort of patients with myotonicdystrophy types 1 (DM1) and 2 (DM2) AbstractText: We analyzed patient-reported data and medical records in a national registry cohort at baseline and 5 ...
Gastrointestinal Diseases (1), Anti-Obesity and Weight Loss (1) Myotonic Dystrophy (2), Gastroesophageal Reflux (1), more mentions
This article reviews advancements in the genetics of malignant hyperthermia, new technologies and approaches for its diagnosis, and the existing limitations of genetic testing for malignant hyperthermia. It also reviews the various RYR1-related disorders and phenotypes, such as myopathies, exertional rhabdomyolysis, and bleeding disorders, and examines the connection between these disorders and malignant hyperthermia.
... is the major muscle of inspiration and its function is critical for optimal respiration. Diaphragmatic failure has long been recognized as a major contributor to death in a variety of systemic neuromusculardisorders. More recently, it is increasingly apparent that diaphragm dysfunction is present in a high percentage of critically ill patients, and is associated with increased morbidity and mortality.
Respiratory Failure (1), Lung Injury (1), Sepsis (1), more mentions
DescriptorName: Diphtheria-Tetanus-acellular Pertussis Vaccines... Although coverage in the Eastern Mediterranean Region (EMR) with the third dose of a vaccine containing diphtheria, tetanus, and pertussis antigens (DTP3) was ≥90% in 14 countries in 2015, DTP3 coverage in EMR dropped from 86% in 2010 to 80% in 2015 due to ...
Vaccines (10) Poliomyelitis (15), Tetanus (2), Diphtheria (2), more mentions
Chloride conductance disturbances contribute to sarcolemmal dysfunction in type 1 (DM1) and 2 (DM2) myotonicdystrophy. Studies using muscle velocity recovery cycles (MVRCs) suggest Na(+) /K(+) -ATPase activation becomes defective in advanced DM1. We used MVRCs to investigate muscle excitability in DM1 and DM2.MVRCs were measured for patients with mild (n = 8) and advanced DM1 (n = 11), DM2 (n ...