Articles tagged with Neuromuscular Diseases
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A study published in the Journal of Neurologic Physical Therapy found that backward walking training improved postural stability and gait speed in most participants with multiple sclerosis. The researchers suggest that this therapy may promote neuroplasticity and be a potential new treatment for improving mobility and decreasing falls.
A new study from Karolinska Institutet reveals the Epstein-Barr virus can damage the brain and contribute to multiple sclerosis through molecular mimicry. The researchers found that cross-reactive T cells are significantly more common in people with MS, and targeting these cells may lead to new treatments.
A study of 101 glioma cases reveals that one-third of patients develop permanent paralysis after surgery. High tumor grade, pre-operative motor deficits, and larger tumor volume are key predictors. The work underscores the importance of careful surgical planning to maximize survival while safeguarding motor function.
Researchers discovered that a missing piece of myelin in nerve cells slows signal transmission to the thalamus, disrupting communication loops and cognitive tasks. This finding sheds light on symptoms associated with grey matter lesions in MS.
A new urine test can detect SORD deficiency, a common cause of inherited nerve disease, earlier and more cheaply than genetic tests. The test has brought understanding and access to care for affected families, particularly in the Old Order Amish community.
A nationwide analysis found that roughly 25% of patients with Bell's palsy received CT or MRI scans within 30 days of diagnosis, not aligned with current guidelines. This study highlights the need for initiatives to align clinical practice with evidence-based guidelines, promoting early treatment and minimizing unnecessary imaging.
Researchers at UMC Utrecht are developing a predictive model to accurately predict disease progress in juvenile dermatomyositis. The Interferon Score aims to identify which children can safely reduce medication and which require intensified treatment.
Hereditary spastic paraplegias are a diverse group of over 80 neurodegenerative disorders with limited therapeutic options. Boston Children's Hospital is expanding its research efforts to promote clinical trial readiness for these disorders, thanks to an $8.1M NIH grant.
The 15th annual Les Turner Symposium on ALS will bring together leading researchers to discuss the latest research and perspectives on the disease. Dr. Don Cleveland, a renowned expert, will deliver a keynote address on developing designer DNA drug therapy for neurodegenerative diseases.
A study of over 96,000 people reveals that early warning signs of multiple sclerosis appear consistently across ethnic and social groups, years before diagnosis. This finding could aid in early detection and treatment, slowing disease progression and improving quality of life.
The American College of Chest Physicians has achieved a critical milestone in its advocacy efforts, leading to changes in federal coverage guidelines for noninvasive ventilation devices used in the home. These revised guidelines reflect major recommendations submitted by CHEST and aim to enhance patient care.
Researchers found a hormone combination of growth hormone and testosterone to be safe and effective in improving muscle mass, strength and mobility in men with facioscapulohumeral muscular dystrophy (FSHD). The treatment resulted in gains of up to 4.5 lbs of lean muscle and improved walking ability by 37 meters.
Researchers at UCLA have developed a wearable noninvasive brain-computer interface system that utilizes AI to interpret user intent, allowing participants to complete tasks significantly faster with assistance. The system demonstrates promising results for technology to assist individuals with limited physical capabilities.
A wearable robot has been upgraded to provide personalized assistance to ALS and stroke patients. The device uses machine learning and a physics-based model to adapt to an individual user's movements, offering more nuanced help with daily tasks.
A new study by University of South Australia researchers uses genetic recall to explore links between multiple sclerosis (MS) and the Epstein-Barr virus. The study aims to identify early warning signs or biomarkers for MS, enabling early detection and intervention.
Genethon is launching a Phase 3 clinical trial in Europe for its low-dose microdystrophin gene therapy GNT0004, targeting boys aged 6 to 10 with retained walking ability. The trial aims to demonstrate efficacy and tolerance of the treatment.
A new study has found that a simple blood test can predict cognitive decline in Alzheimer's patients, identifying insulin resistance as a key risk factor. The research used the triglyceride-glucose (TyG) index to analyze 315 non-diabetic patients with cognitive deficits, finding those with high TyG levels deteriorated rapidly.
Scientists have uncovered a previously unknown mechanism explaining how neurons survive botulinum neurotoxin type A exposure. The research found that specific tRNA fragments interact with key proteins and RNA molecules involved in regulating ferroptosis, supporting neuronal survival by blocking cell death pathways.
The Consortium of MS Centers Annual Meeting will assemble top MS experts for a powerhouse lineup on May 28-31 in Phoenix. Key findings include the exploration of holistic care and its impact on patient-centered empowerment, as well as breakthroughs in MS treatment and research.
Researchers at Hospital for Special Surgery found that mesenchymal stromal cells produce cytokines stimulating resident macrophages to proliferate and accumulate, contributing to chronic inflammation. Existing therapies may help control muscle inflammation by suppressing macrophage infiltration and FAPs' CSF-1 production.
Researchers at the University of Groningen discovered that mefloquine can enhance the effect of aminoglycosides to override faulty stop signals in proteins. This could lead to the development of new drugs tackling genetic diseases.
Severe RSV disease among children is more likely those aged 2 or older with pulmonary or neurologic conditions. Younger children under 6 months and prematurity are high-risk factors for severe RSV in younger kids.
The ALL ALS Consortium has recruited over 300 participants across two studies, ASSESS and PREVENT, aiming to disrupt traditional ALS research by making data and samples available worldwide. The consortium seeks to discover new drug targets and approaches for effective treatments.
Angel Martí, a leading researcher on chemistry and nanostructures, has been awarded the Robert Holland Jr. Award for his groundbreaking work. He is recognized for his contributions to advancing scientific discovery and fostering talent in STEM fields.
Researchers found that p-tau proteins in blood are elevated in both Alzheimer's and ALS patients, making them less specific for Alzheimer's diagnosis. However, they also show promise as potential biomarkers for early detection of ALS or monitoring disease progression.
A new drug-free intervention targets the root cause of progressive loss of neural function in SMA by gradually reawakening functionally silent motor neurons. Early results show improved leg muscle strength and walking in adults with SMA, regardless of symptom severity.
Researchers at the University of Colorado Anschutz Medical Campus have discovered a promising drug candidate that accelerates the brain's natural repair mechanisms and improves vision-related brain functions. The treatment, LL-341070, enhances myelin repair, which is crucial for preventing vision loss in diseases like MS.
A University of Michigan-led study found that treatment with either modafinil or cognitive behavioral therapy alone was associated with significant reductions in fatigue over 12 weeks. A combination of both treatments worked as well as each individual treatment but did not result in better fatigue scores.
A new study reveals a promising therapy using antimiRs to treat myotonic dystrophy type 1 (DM1), a genetic disorder caused by abnormally high CTG repeats in the DMPK gene. The treatment increased MBNL1 levels and improved muscle cell functions, reducing disease symptoms.
Researchers found lamotrigine to reduce stiffness in non-dystrophic myotonias by around the same amount as mexiletine, offering a new treatment option. The trial results have direct implications for patient care and provide more 'real-world' options for patients with this life-changing muscle disorder.
The Hybrid Assistive Limb (HAL) system improved gait distance by 30% and maintained quality of life in patients with Spinal and Bulbar Muscular Atrophy (SBMA). The study suggests that continuous HAL therapy can preserve physical function and quality of life over an extended period.
Researchers found anomalies in embryonic development of individuals with spinal muscular atrophy (SMA), which could lead to new treatment options. These abnormalities were recreated in laboratory-grown tissue cultures called organoids, revealing key insights into the disease's progression.
A study by Sant Pau Research Institute identified a new mutation in the ARPP21 gene linked to amyotrophic lateral sclerosis (ALS) in 10 patients from 7 unrelated families. The finding suggests that ARPP21 is a novel ALS-causing gene with potential for personalized therapies and diagnosis.
Researchers at MD Anderson Cancer Center have identified a small molecule compound that restores physiological levels of telomerase reverse transcriptase (TERT), reducing cellular senescence and tissue inflammation. TERT restoration also spurred new neuron formation with improved memory and enhanced neuromuscular function.
FutureNeuro, a leading SFI Research Centre, is expanding its research programme with a focus on diagnostics, therapeutics, and digital health. The centre aims to develop precision diagnostics, future treatments, and systems using real-time health data.
Researchers assessed swimming performance and survival under stress to evaluate the effects of three compounds on health and lifespan in Caenorhabditis. The study found complex relationships among median lifespan, oxidative stress resistance, thermotolerance, and mobility vigor.
A study in the Journal of Neuromuscular Diseases found that disease-modifying gene therapy treatments improve motor function, bulbar function, and pulmonary function in infants with spinal muscular atrophy. The real-world data from a large patient registry confirms improved safety profiles for early treatment opportunities.
Researchers from the University of Cincinnati presented findings on the effectiveness of a two-component enzyme replacement therapy for late-onset Pompe disease. The study showed that patients treated with this regimen experienced improvement or stability in motor function, pulmonary function, and muscle strength. Additionally, experts...
Researchers discovered a new treatment that strengthens muscles in patients with Myasthenia Gravis, an autoimmune disease leading to severe weakness and fatigue. The breakthrough, targeting the connection between nerves and muscle cells, shows promising results without significant side effects.
Researchers found that calcium channel blockers can reverse symptoms of myotonic dystrophy in animal models, a potential new treatment for the disease. The study suggests that targeting the calcium channel could improve muscle function and health, offering hope for patients with this debilitating condition.
A novel workflow has been developed to identify patients with 5q-SMA, a common type of spinal muscular atrophy, more accurately. The new approach uses a bioinformatics pipeline that masks the paralogous regions of the SMN1 gene, allowing for more precise detection of genetic variants.
A novel robotic system developed by USC researchers can help clinicians accurately assess a patient's rehabilitation progress. The method generates an 'arm nonuse' metric using machine learning and a socially assistive robot to track how much a patient is using their weaker arm spontaneously.
Researchers at Stanford Medicine have discovered a small molecule that restores lost connections between nerves and muscle fibers in aging mice, leading to improved strength and function. The study suggests that the drug may one day be used to prevent or treat muscle loss due to aging or disease.
A new national ALS research consortium, Access for All in ALS, has been launched with a $16.7 million NIH award. The consortium will include 34 clinical sites nationwide and generate a longitudinal biorepository linked to detailed clinical information.
The August issue of CHEST journal features a new clinical practice guideline for managing patients with neuromuscular weakness and a multisociety evidence review on the effect of race and ethnicity on pulmonary function testing interpretation. This is complemented by other research and reviews covering various aspects of chest medicine.
Researchers at Tokyo Metropolitan University have discovered that 5-aminolevulinic acid can selectively boost Complex II and IV to counteract Complex I deficiency, a common cause of mitochondrial disorders. This finding offers new hope for the development of treatments for debilitating conditions such as MELAS syndrome.
A recent study in Columbus reveals striking disparities in accessibility for wheelchair users traveling by public bus. Manual wheelchair users have access to only 1% of the city, while powered wheelchair users can reach about 25%. The main obstacle is infrastructure, particularly sidewalks, which are damaged or missing in many areas.
The American College of Chest Physicians released a clinical practice guideline on respiratory management for patients with neuromuscular weakness, providing evidence-based recommendations for mouthpiece ventilation and airway clearance therapies. The guideline aims to improve care for this vulnerable population.
A study published in Journal of Neuromuscular Diseases demonstrates a positive effect of nusinersen treatment on motor function in ambulant pediatric and adult SMA patients. Clinically meaningful improvements in walking distance were observed in a subgroup of patients, with only five adult walkers showing a decline.
Researchers developed an iEMG classifier framework for detecting myopathy and neuropathy, achieving high accuracy in three muscle types and low computational time. The study showed promise for real-time implementation, aiding clinicians in making quick and accurate diagnoses.
A new study found that children with four copies of the SMN2 gene who received pre-symptomatic treatment showed no symptoms, while untreated patients developed irreversible symptoms. The researchers recommend encouraging early intervention in childhood for these patients to avoid potential deficits.
Researchers have discovered that mutations causing Duchenne muscular dystrophy slow electrical activity in the heart, leading to abnormal heart rhythms. This finding may help explain why up to 60% of DMD patients experience life-threatening heart rhythm abnormalities and could lead to new treatment strategies.
Researchers from the University of Tsukuba found that Synapsology, a game-like dual-task exercise, helps maintain or improve cognitive and physical abilities in older adults aged 85-97. The study, published in Alzheimer's & Dementia, suggests that this cost-effective intervention can have a societal impact.
A new study found that patients with spinal muscular atrophy (SMA) who were identified through newborn screening had lower financial costs compared to those identified after symptoms arose. Early treatment also resulted in reduced costs, highlighting the importance of timely intervention.
Scientists discover that activating TAK1 in skeletal muscle promotes muscle growth and prevents atrophy, with implications for treating conditions like cancer, COPD, and genetic diseases. The research also highlights the importance of maintaining healthy neuromuscular junctions.
Researchers uncover the pleiotropic functions of hnRNPK in regulating skeletal muscle cell differentiation, including inhibition of myoblast differentiation and suppression of genes involved in endoplasmic reticulum stress. The study suggests that targeting hnRNPK could be a potential therapeutic strategy for treating human disorders.
A study by Harvard T.H. Chan School of Public Health researchers found a strong association between Epstein-Barr virus infection and multiple sclerosis. The risk of MS increased 32-fold after EBV infection, while serum levels of neurofilament light chain, a biomarker of nerve degeneration, only increased after EBV infection.
A study by GIST scientists found that physical interaction between children with cerebral palsy and horses improves motor skills and balance. The research team recorded horse and child movements, tracking acceleration and angular velocity to quantify interactions, which were linked to improved outcomes.
Researchers highlight the importance of sharing well-conducted studies with negative or irreproducible results, even if they disprove a hypothesis. The Journal of Neuromuscular Diseases special issue on 'The Null Hypothesis' presents eight articles that contribute valuable information to the scientific record.
Researchers developed a wearable, biocompatible, and low-cost biosensor that measures electromyography signals in muscles. The sensor uses a gold-silver nanocomposite printed onto fabric, providing a comfortable and effective way to track muscle activity.