11,631 results match your criteria: "Spinal Muscular Atrophy"
Semin Respir Crit Care Med
December 2024
Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, Ohio.
Neuromuscular disorders can cause respiratory impairment by affecting the muscle fibers, neuromuscular junction, or innervation of respiratory muscles, leading to significant morbidity and mortality. Over the past few years, new disease-modifying therapies have been developed and made available for treating different neuromuscular disorders. Some of these therapies have remarkable effectiveness, resulting in the prevention and reduction of respiratory complications.
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2024
Centre de Référence Des Maladies Neuromusculaires AOC, CHU de Nantes, Filnemus, Euro-NMD, Hôtel Dieu, Nantes, France.
Background: Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such treatment raised questions about male SMA patients' spermatogenesis.
Methods: This descriptive, cross-sectional study was conducted from June 2022 to July 2023.
Arq Neuropsiquiatr
December 2024
Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.
Background: Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the gene.
Objective: To describe the key demographic, clinical and genetic characteristics, as well as natural history data of patients with SMA-5q.
Methods: Up to January 2022, 706 patients with confirmed genetic diagnosis of SMA-5q, or their parents, completed a self-reported questionnaire on natural history, genetic characteristics, drug treatments, and multidisciplinary care.
Brain Dev
December 2024
Department of Medical Genetics Medical Faculty, Aksaray University, Aksaray, Turkiye.
Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) typically present before age 10. Genetic factors account for up to 50 % of neuropathies, which often display varied symptoms. Mutations in the IGHMBP2 gene are associated with both CMT2S and SMARD1, resulting in a rare clinical condition marked by axonal neuropathy, spinal muscular atrophy, respiratory distress, and muscle weakness.
View Article and Find Full Text PDFFront Physiol
December 2024
Department of Biomedical Sciences, College of Veterinary Medicine, University of Missouri, Columbia, MO, United States.
Introduction: Intrapleural injections of cholera toxin B conjugated to saporin (CTB-SAP) result in selective respiratory (, phrenic) motor neuron death and mimics aspects of motor neuron disease [(, amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA)], such as breathing deficits. This rodent model allows us to study the impact motor neuron death has on the output of surviving phrenic motor neurons as well as the compensatory mechanisms that are recruited. Microglial density in the phrenic motor nucleus as well as cervical gene expression of markers associated with inflammation (.
View Article and Find Full Text PDFFront Cell Neurosci
December 2024
Centre for Neuroscience, Surgery and Trauma, Barts and The London School of Medicine and Dentistry, Blizard Institute, Queen Mary University of London, London, United Kingdom.
Biom J
February 2025
Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
In a longitudinal clinical registry, different measurement instruments might have been used for assessing individuals at different time points. To combine them, we investigate deep learning techniques for obtaining a joint latent representation, to which the items of different measurement instruments are mapped. This corresponds to domain adaptation, an established concept in computer science for image data.
View Article and Find Full Text PDFFront Neurol
December 2024
Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, United States.
Introduction: Fatigue and gait speed are established determinants of fall risk in patients with neurological disorders. However, data on adults with spinal muscular atrophy (SMA) is limited. The aim of this pilot study was to investigate falls and risk factors in adults with SMA.
View Article and Find Full Text PDFAust J Gen Pract
December 2024
PhD, GDipGenetCouns, Honorary Principal Fellow, Department of Paediatrics, University of Melbourne, Melbourne, Vic; Associate Professor, Head of Service Development, Reproductive Genetics and Group Leader @ Reproductive Genetic Counselling, Victorian Clinical Genetics Services, Murdoch Children@s Research Institute, Melbourne, Vic
Background And Objectives: The Royal Australian College of General Practice recommends that all women contemplating pregnancy or in early pregnancy should be offered reproductive genetic carrier screening (RGCS). In November 2023, a new Medicare item number was introduced for RGCS to detect cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS) carrier status. The role of general practice in offering RGCS is recognised as being of crucial importance, but only a minority of general practitioners (GPs) are offering such screening.
View Article and Find Full Text PDFNeurol Sci
December 2024
Department of Neurology, The Second Hospital, Lanzhou University, Lanzhou, Gansu, 730030, China.
Hum Mol Genet
December 2024
Center for Motor Neuron Biology and Disease, Columbia University Medical Center, 630 W. 168th St., New York, NY 10032, United States.
Spinal muscular atrophy (SMA) is caused by low levels of the survival motor neuron (SMN) protein. Even though SMN is ubiquitously expressed, the disease selectively affects motor neurons, leading to progressive muscle weakness. Even among motor neurons, certain motor units appear more clinically resistant to SMA.
View Article and Find Full Text PDFZh Nevrol Psikhiatr Im S S Korsakova
December 2024
JSC BIOCAD, St. Petersburg, Russia.
Spinal muscular atrophy (SMA) is a group of genetically heterogeneous neuromuscular diseases characterized by the progressive loss of motor neurons in the anterior horns of the spinal cord. The prevalence of SMA is approximately 1 in 10.000 live births.
View Article and Find Full Text PDFExpert Opin Drug Saf
December 2024
Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China.
Neuropediatrics
December 2024
Department of Physiotherapy, King Fahd Specialist Hospital, Dammam, Saudi Arabia.
Spinal muscular atrophy (SMA) is a rare autosomal recessive genetic disease caused by Survival Motor Protein 1 () gene mutations. Classically divided into three types, SMA is characterized by hypotonia, weakness, and tongue fasciculation in the first 6 months of life in type 1, inability to walk and limb weakness in type 2, and failure to run with proximal weakness in type 3 SMA. With the advent of newborn screening, treating presymptomatic patients with Onasemnogene abeparvovec (OA) is the treatment of choice in some centers worldwide.
View Article and Find Full Text PDFJBRA Assist Reprod
December 2024
Genetics Unit, Department of Pathology, University of Porto, Alameda Professor Hernâni Monteiro, 4200-319, Porto, Portugal.
Objective: There is a rising demand for assisted reproductive medicine, including sperm, oocyte and embryo donation. Besides medical and legal considerations, genetic testing, including carrier screening for multiple autosomal and X-linked recessive disorders plays an essential role in evaluating hereditary risk among donors and therefore exclude them from the donation process.
Methods: A retrospective study was conducted on oocyte donors from a private clinic of assisted reproduction who underwent genetic testing between June 2014 and September 2023.
EClinicalMedicine
December 2024
Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Background: The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.
Methods: The study included all symptomatic children with type I SMA born since January 1st, 2016, when DMTs became available in Italy.
J Clin Med
December 2024
Clinic of Paediatric Neurology, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland.
The accessibility of effective SMA (spinal muscular atrophy) treatment is resulting in a growing number of affected women reaching fertility age and deciding to conceive. Pregnancy in women with SMA is associated with a high risk of rapid progression of symptoms, including increased weakness, growing paresis, or even onset of respiratory failure requiring ventilation support. Muscle weakness frequently leads to disability, which in a high percentage is irreversible.
View Article and Find Full Text PDFThis review explores recent advancements in gene therapy as a potential treatment for neurodegenerative diseases, focusing on intervention mechanisms, administration routes, and associated limitations. Following the PRISMA procedure guidelines, we systematically analyzed studies published since 2020 using the PICO framework to derive reliable conclusions. The efficacy of various gene therapies was evaluated for Parkinson's disease (n = 12), spinal muscular atrophy (n = 8), Huntington's disease (n = 3), Alzheimer's disease (n = 3), and amyotrophic lateral sclerosis (n = 6).
View Article and Find Full Text PDFTransl Neurodegener
December 2024
Laboratory for Research on Neurodegenerative Disorders, Istituti Clinici Scientifici Maugeri IRCCS, 27100, Pavia, Italy.
Tremor Other Hyperkinet Mov (N Y)
December 2024
National Clinical Research Center for Geriatric Disorders, Changsha, Hunan 410078, China.
Background: Postural tremor is a common clinical situation. Timely and accurate diagnosis is essential for effective treatment. However, clinicians often encounter difficulties distinguishing between essential tremor and other etiologies due to overlapping symptoms and atypical features.
View Article and Find Full Text PDFEur J Paediatr Neurol
December 2024
Pediatric Neurology Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Background: Intra-thecal Nusinersen has been approved for the treatment of Spinal muscular atrophy (SMA). Limited data is available regarding the efficacy and safety of Nusinersen in children with SMA type 2 and 3 from North India.
Objective: To study the efficacy and safety of Nusinersen among children with SMA type 2 and 3 from North India compared to standard of care (SOC) over 12 months.
Mol Ther
December 2024
Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA. Electronic address:
Spinal muscular atrophy (SMA) is a pediatric genetic disorder characterized by the loss of spinal cord motor neurons. Although the mechanisms underlying motor neuron loss are not clear, current data suggest that glial cells contribute to disease pathology. We have previously found that SMA astrocytes drive microglial activation and motor neuron loss potentially through the upregulation of NFkB-mediated pro-inflammatory cytokines.
View Article and Find Full Text PDFGenet Med
December 2024
Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:
Purpose: We set out to develop a publicly available tool that could accurately diagnose spinal muscular atrophy (SMA) in exome, genome or panel sequencing datasets aligned to a GRCh37, GRCh38, or T2T reference genome.
Methods: The SMA Finder algorithm detects the most common genetic causes of SMA by evaluating reads that overlap the c.840 position of the SMN1 and SMN2 paralogs.
J Neurol
December 2024
Department of Orthopedics, The Second Affiliated Hospital of Soochow University, No. 1055, Sanxiang Road, Suzhou, 215004, Jiangsu, China.
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by deletions or mutations of survival of motor neuron 1 (SMN1) gene. To date, the mechanism of selective cell death of motor neurons as a hallmark of SMA is still unclear. The severity of SMA is dependent on the amount of survival motor neuron (SMN) protein, which is an essential and ubiquitously expressed protein involved in various cellular processes including regulation of cytoskeletal dynamics.
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