"Neuromuscular disease"

Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan In Japan, there are no nationwide guidelines for presymptomatic testing for hereditary neuromuscular diseases. Although each institution has been dealing with this situation by using their own procedures to date, it is necessary to develop a standardized guidelines based on the Japanese

International Consensus Guidance for the Management of Glucocorticoid Related Complications in Neuromuscular Disease 15 ABSTRACT Introduction/Aims Glucocorticoid (GC)‐related adverse reactions and risks are commonly seen during the treatment of immune‐mediated inflammatory neuromuscular disorders. There is wide variation in management associated complications. The aim this study to develop

European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERN EURO-NMD) 8 26 Abstract Background This update of the guideline on management amyotrophic lateral sclerosis (ALS) was commissioned by European Academy Neurology (EAN) and prepared in collaboration with Reference Network for Neuromuscular Diseases (ERN EURO‐NMD) support Cure ALS (ENCALS) Organization Professionals Patients (EUpALS). Methods Grading Recommendations Assessment, Development, Evaluation (GRADE) methodology used to assess effectiveness interventions ALS. Two systematic reviewers from Cochrane Response supported panel. The working group identified a total research questions, performed reviews, assessed quality

Efficacy, effectivity and safety of physical therapies for neuromuscular diseases: systematic review Eficacia, efectividad y seguridad de las terapias físicas en las enfermedades neuromusculares. Revisión sistemática | Servicio de Evaluación de Tecnologías Sanitarias de Andalucía (AETSA) TwitterRssServicio de Evaluación de Tecnologías Sanitarias de Andalucía (AETSA)La misión del Servicio de en las enfermedades neuromusculares. Revisión sistemáticaVolver al buscadorEfficacy, effectivity and safety of physical therapies for neuromuscular diseases: systematic review * Año * Áreas de Conocimiento * Tipo Tecnología * Línea de Producción 2020ENFERMERÍA FAMILIAR Y COMUNITARIA, MEDICINA FAMILIAR Y COMUNITARIA, MEDICINA FÍSICA Y REHABILITACIÓN, NEUROLOGÍATEC. SANITARIA. EXCLU

A Formal Needs Assessment in Palliative Care Clinic Development for Adolescent/Young Adults (AYAs) with Neuromuscular Disease. Although medical advancements have prolonged survival in Duchenne muscular dystrophy (DMD), it remains a life-limiting diagnosis with numerous challenges. Palliative care is recommended for all patients with DMD, but there is no consensus on the recommended outpatient

Treating neuromuscular diseases: unveiling gene therapy breakthroughs and pioneering future applications. In this review, we highlight recent advancements in adeno-associated virus (AAV)-based gene therapy for genetic neuromuscular diseases (NMDs), focusing on spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). We discuss the current FDA-approved gene therapies for NMDs

Prevalence of co-morbidity and history of recent infection in patients with neuromuscular disease: A cross-sectional analysis of United Kingdom primary care data. People with neuromuscular disease (NMD) experience a broader range of chronic diseases and health symptoms compared to the general population. However, no comprehensive analysis has directly quantified this to our knowledge. We used

Identification of wheelchair seating criteria in adults with neuromuscular diseases: A Delphi study. Adults with neuromuscular diseases like spinal muscular atrophy or Duchenne muscular dystrophy require full-time use of a wheelchair (WC) and perform all activities of daily living in a sitting position. Optimal configuration of the WC and seating system is essential to maintain the health

Effects of a neuropsychosocial teleassistance intervention on social cognition and health-related quality of life of pediatric patients with neuromuscular diseases. This study aimed to determine the effects of a neuropsychosocial teleassistance group-based intervention on improving social cognitive functioning and health-related quality of life (HRQoL) in pediatric neuromuscular diseases (NMD

Complement and MHC patterns can provide the diagnostic framework for inflammatory neuromuscular diseases. Histopathological analysis stands as the gold standard for the identification and differentiation of inflammatory neuromuscular diseases. These disorders continue to constitute a diagnostic challenge due to their clinical heterogeneity, rarity and overlapping features. To establish standardized protocols for the diagnosis of inflammatory neuromuscular diseases, the development of cost-effective and widely applicable tools is crucial, especially in settings constrained by limited resources. The focus of this review is to emphasize the diagnostic value of major histocompatibility complex (MHC) and complement patterns in the immunohistochemical analysis of these diseases. We explore

Compassionate Ventilator Release In Patients With Neuromuscular Disease: A Two-Case Comparison. Dyspnea, the subjective sensation of breathlessness, is a distressing and potentially traumatic symptom. Dyspnea associated with mechanical ventilation may contribute to intensive care unit (ICU) associated post-traumatic stress disorder and impaired quality of life Dyspnea is both difficult to alleviate and a cause of significant distress to patients, their loved ones, and care providers People living with neuromuscular disease, such as amyotrophic lateral sclerosis (ALS) or myasthenia gravis (MG), often rely on a ventilator at late stages of illness due to complications of progressive respiratory muscle weakness and paralysis When unable to wean from the ventilator, conversations turn towards

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations. Dominant missense mutations of the calcium-permeable cation channel TRPV4 cause Charcot-Marie-Tooth disease (CMT) type 2C and two forms of distal spinal muscular atrophy. These conditions are collectively referred to as TRPV4-related neuromuscular disease and share features of motor greater than features and natural history of TRPV4-related neuromuscular disease is insufficient to enable rational clinical trial design. To address these issues, we developed a TRPV4 patient database and administered a TRPV4-specific patient questionnaire. Here, we report demographic and clinical information, including CMT examination scores (CMTES), from 68 patients with known pathogenic TRPV4 variants, 40 of whom

Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases. Establishing a molecular diagnosis remains challenging in half of individuals with childhood-onset neuromuscular diseases (NMDs) despite exome sequencing. This study evaluates the diagnostic utility of combining genomic approaches in undiagnosed NMD patients. We performed deep phenotyping of 58

Risk Stratification and Management of Acute Respiratory Failure in Patients With Neuromuscular Disease. Guillain-Barré syndrome (GBS) and myasthenia gravis (MG) are the most common causes of acute neuromuscular respiratory failure resulting in ICU admission. This synthetic narrative review summarizes the evidence for the prediction and management of acute neuromuscular respiratory failure due . Multimodal assessments integrating several bedside indicators of bulbar and respiratory muscle function can aid in evidence-based risk stratification for respiratory failure among those with neuromuscular disease. Serial evaluations may help establish a patient's trajectory and to determine timing of respiratory intervention.

Validity of Cardiopulmonary Exercise Testing for Assessing Aerobic Capacity in Neuromuscular Diseases. To determine the content validity of cardiopulmonary exercise testing (CPET) for assessing peak oxygen uptake (VO) in neuromuscular diseases (NMD). Baseline assessment of a randomized controlled trial. Academic hospital. Eighty-six adults (age: 58.0±13.9 y) with Charcot-Marie-Tooth disease (n

Comparing Outcomes of a Discrete Choice Experiment and Case 2 Best-Worst Scaling: An Application to Neuromuscular Disease Treatment. Case 2 best-worst scaling (BWS-2) is an increasingly popular method to elicit patient preferences. Because BWS-2 potentially has a lower cognitive burden compared with discrete choice experiments, the aim of this study was to compare treatment preference weights and relative importance scores. Patients with neuromuscular diseases completed an online survey at two different moments in time, completing one method per occasion. Patients were randomly assigned to either first a discrete choice experiment or BWS-2. Attributes included: muscle strength, energy endurance, balance, cognition, chance of blurry vision, and chance of liver damage. Multinomial logit was used

Relationship Between Heart Rate and Perceived Exertion in Neuromuscular Diseases: How do Laboratory-Based Exercise Testing Results Translate to Home-Based Aerobic Training Sessions? To examine the heart rate-perceived exertion relationship between maximal exercise testing and home-based aerobic training in neuromuscular diseases. Multicentre randomized controlled trial, intervention group data . Individuals with Charcot-Marie-Tooth disease (n = 17), post-polio syndrome (n = 7) or other neuromuscular diseases (n = 6). Participants followed a 4-month, homebased aerobic training programme guided by heart rate. Heart rate and ratings of perceived exertion (6-20 Borg Scale) were assessed for each minute during a maximal exercise test, and at the end of each exercise interval and recovery period during

Neuromuscular disease genetics in underrepresented populations: increasing data diversity. Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-middle income countries (LMICs) with limited access to DNA-based diagnosis. Most (86

A Randomised Controlled Trial of Lung Volume Recruitment in Adults with Neuromuscular Disease. Clinical care guidelines advise lung volume recruitment (LVR) be performed routinely by people with neuromuscular disease (NMD), to maintain lung and chest wall flexibility and slow lung function decline. However, the evidence-base is limited and no randomised controlled trials (RCT) of regular LVR

Cross-sectorial collaboration on policy-driven rehabilitation care models for persons with neuromuscular diseases: reflections and behavior of community-based health professionals. Persons with neuromuscular diseases (NMDs) often experience complex rehabilitation needs due to the disease's impact on their functioning and progression of their diseases. As a consequence of legislation and "policy