( "Neuromuscular Disorders Overview" OR "neuromuscular disorders" OR "neuromuscular diseases")

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

Genetic testing for the diagnosis of early-onset or familial neuromuscular disorders MSAC - 1585 - Genetic testing for the diagnosis of early-onset or familial neuromuscular disorders Skip to content Skip to site navigation Skip to local navigation Search Search Department of Health and Aged Care Medical Services Advisory CommitteeSearch Search * MSAC * About MSAC * About MSAC * MSAC Terms - Genetic testing for the diagnosis of early-onset or familial neuromuscular disorders Page last updated: 09 February 2022Application DetailDescription of Medical ServiceDiagnostic genetic testing of affected individuals:Gene panel testing to identify pathogenic variants for inherited neuromuscular disorders, in patients where clinical criteria or a family history indicate genetic testing is warranted

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

NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries. Although substantial advancements have been made in genetic testing, several barriers continue to limit patient access, leading to delays in diagnosis, effective treatments, and preventative measures. The NEUROMYODredger-3billion Megaproject End the Diagnostic Odyssey grant offered free whole exome sequencing (WES) to 245 patients with undiagnosed neurodevelopmental or neuromuscular disorders in seven countries: Algeria, Chile, Egypt, France, Mexico, Peru, and Romania. We found pathogenic variants in 79 patients (diagnostic yield 32.24%)-36 neurodevelopmental (43.90%) and 43 neuromuscular (26.38%). Fifty patients harboured variants of uncertain significance (VUS

Hypoglossal Nerve Stimulation for Obstructive Sleep Apnea and Comorbid Neuromuscular Disorders. Hypoglossal nerve stimulation (HGNS) is an effective surgical treatment for many patients with moderate-to-severe obstructive sleep apnea (OSA) who are unable to tolerate continuous positive airway pressure. Patients with neuromuscular disorders (NMD) are particularly vulnerable to more complex sleep

Effects of specialist care lower limb orthoses on personal goal attainment and walking ability in adults with neuromuscular disorders. Lower limb orthoses intend to improve walking in adults with neuromuscular disorders (NMD). Yet, reported group effects of lower limb orthoses on treatment outcomes have generally been small and heterogeneous. We propose that guideline-based orthotic care within

Quantitative sonographic assessment of muscle thickness and fasciculations distribution is a sensitive tool for neuromuscular disorders. Loss of muscle thickness can be demonstrated in a wide spectrum of neuromuscular disorders, while fasciculations are more frequent in amyotrophic lateral sclerosis (ALS). In the current study, we aimed to determine the sensitivity and specificity of quantitative sonographic assessment of muscle thickness and the presence of fasciculations for diagnosing various neuromuscular disorders. The thickness and the presence of fasciculations in eight muscles were determined by sonography in patients with myopathy (22), polyneuropathy (36), ALS (91), and spinal muscular atrophy (SMA) (31) and compared to normative values determined in 65 heathy control subjects

Peripheral nervous system and neuromuscular disorders in the emergency department: A review. Acute presentations and emergencies in neuromuscular disorders (NMDs) often challenge clinical acumen. The objective of this review is to refine the reader's approach to history taking, clinical localization and early diagnosis, as well as emergency management of neuromuscular emergencies. An extensive when presentations occur "de novo," respiratory failure is dominant or isolated, or in the case of atypical scenarios such as GBS variants, severe autonomic dysfunction, or rhabdomyolysis. Diseases of the central nervous system, systemic and musculoskeletal disorders can mimic presentations in neuromuscular disorders. Fortunately, early diagnosis and management can improve prognosis. This article

Neuromuscular Disorders in Pediatric Respiratory Disease. Respiratory sequelae are a frequent cause of morbidity and mortality in children with NMD. Impaired cough strength and resulting airway clearance as well as sleep disordered breathing are the two main categories of respiratory sequelae. Routine clinical evaluation and diagnostic testing by pulmonologists is an important pillar

CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes. Cytoplasmic and nuclear iron-sulfur (Fe-S) enzymes that are essential for genome maintenance and replication depend on the cytoplasmic Fe-S assembly (CIA) machinery for cluster acquisition. The core of the CIA machinery consists of a complex of CIAO1, MMS19 and FAM96B. The physiological

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

Sex differences in neuromuscular disorders. The prevalence, onset, pathophysiology, and clinical course of many neuromuscular disorders (NMDs) may significantly differ between males and females. Some NMDs are more frequently observed in females, and characterized to show a higher grade of severity during or after the pregnancy. Meanwhile, others tend to have an earlier onset in males and exhibit

Factors influencing participation in home, school, and community settings by children and adolescents with neuromuscular disorders: A qualitative descriptive study. This study explored how children and adolescents with a neuromuscular disorder (NMD) and their parents experienced barriers and enablers to the child's participation. This was a qualitative descriptive design. Fourteen semi environments. The family of Participation-Related Constructs classified the components of participation for children and adolescents with neuromuscular disorders. Meaningful participation involved a complex interaction between personal and environmental factors. Barriers to participation included poor accessibility, lack of equipment, and social exclusion.

A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans. Neuromuscular disorders encompass a broad range of phenotypes and genetic causes. We investigated a consanguineous family in which multiple patients had a neuromuscular disorder characterized by a waddling gait, limb deformities, muscular weakness and facial palsy. Exome sequencing was completed on the DNA of three spectrum disorder. Our study indicates a potential role of biallelic DCAF13 variants in neuromuscular disorders. Screening of additional patients with similar phenotype may broaden the allelic and phenotypic spectrum due to DCAF13 variants.

Non-invasive ventilation for people with neuromuscular disorders in Australia and New Zealand: a qualitative study of clinician perspectives. To explore the experiences of Australian and New Zealand clinicians with respect to care pathways, their awareness and use of non-invasive ventilation guidelines, and their perspectives on delivering quality non-invasive ventilation services to people with neuromuscular disorders. Qualitative study; semi-structured focus groups and individual interviews with Australian and New Zealand clinicians who provide non-invasive ventilation services to people with neuromuscular disorders, recruited from participants at a 2017 sleep medicine conference. Interviews were conducted during 1 October 2017 - 31 May 2018. Major themes identified by an iterative, semantic