11,631 results match your criteria: "Spinal Muscular Atrophy"
Einstein (Sao Paulo)
December 2024
Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
Spinal muscular atrophy is a rare hereditary neurodegenerative disease characterized by progressive motor neuron loss. The most common form of SMA is linked to 5q (5q-SMA) and is classified into subtypes according to the age of onset and maximum motor function achieved. The severity ranges from progressive infantile paralysis and premature death (type 1) to limited motor neuron loss in adults (type 4).
View Article and Find Full Text PDFJ Nurs Res
December 2024
Department of Physical Medicine and Rehabilitation, Chang Gung Memorial Hospital; and School of Medicine, Chang Gung University, Taiwan, ROC.
Background: Spinal muscular atrophy can cause progressive physical disability and difficulties with self-care. Self-care motivation can enhance patient persistence in self-care behavior and maintain health.
Purpose: This study was designed to explore and describe motivations for self-care among school-aged children and adolescents with spinal muscular atrophy and the perspectives of their primary caregivers.
Mol Ther Methods Clin Dev
December 2024
Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, Utrecht, the Netherlands.
The availability of three therapies for the neuromuscular disease spinal muscular atrophy (SMA) highlights the need to match patients to the optimal treatment. Two of these treatments (nusinersen and risdiplam) target splicing of , but treatment outcomes vary from patient to patient. An incomplete understanding of the complex interactions among SMA genetics, SMN protein and mRNA levels, and gene-targeting treatments, limits our ability to explain this variability and identify optimal treatment strategies for individual patients.
View Article and Find Full Text PDFJ Neurosurg Case Lessons
December 2024
Lillian S. Wells Department of Neurosurgery, University of Florida, Gainesville, Florida.
Background: Spinal muscular atrophy (SMA) is an inherited disease that leads to weakness, loss of ambulation, and progressive scoliosis in many patients, frequently requiring early spinal fusion. Nusinersen is a disease-modifying agent that improves symptoms and slows the progression of SMA but requires serial lumbar punctures for intrathecal drug delivery. Spinal fusion for scoliosis has historically been a contraindication for nusinersen therapy, as the fused spinal laminae block access to the thecal sac.
View Article and Find Full Text PDFNeurol Neurochir Pol
December 2024
Neurosurgical Clinic, University Hospital Kralovske Vinohrady, Prague, Czech Republic.
Front Genet
November 2024
Department of Developmental Neurology, Poznan University of Medical Sciences, Poznań, Poland.
A boy is presented in whom Down Syndrome mosaicism and spinal muscular atrophy by overlapping clinical symptoms delayed the diagnosis and caused complicated motor development. The boy from the first pregnancy was delivered vaginally, week 37, Apgar 10, birth weight 3,650 g. The mother, aged 30, had no family history of Down Syndrome or neuromuscular diseases.
View Article and Find Full Text PDFExpert Rev Neurother
December 2024
MDUK Neuromuscular Center, Department of Paediatrics, University of Oxford, Oxford, UK.
J Pediatr Nurs
December 2024
Fırat University, Health Sciences Institute, Elazığ, Turkey.
Int Immunopharmacol
January 2025
Research Center of Basic Integrative Medicine, School of Basic Medical Sciences, Guangzhou University of Chinese Medicine, Guangzhou 510006, China; Department of Medical Biotechnology, School of Basic Medical Sciences, Guangzhou University of Chinese Medicine, Guangzhou 510006, China; Dongguan Institute of Guangzhou University of Chinese Medicine, Dongguan, 523808, China. Electronic address:
Background: Brachial plexu root avulsion (BPRA) commonly causes extensive motoneuron death, motor axon degeneration and denervation of biceps, leading to devastating motor dysfunction in the upper limb. Edaravone (Eda) has been proven to exert anti-oxidative and neuroprotective effects on various neurological disorders. Herein, we aimed to investigate the efficacy profile and potential mechanisms of Eda on BPRA in vitro and in vivo models.
View Article and Find Full Text PDFJ Med Econ
December 2025
Novartis Gene Therapies Switzerland GmbH, Rotkreuz, Switzerland.
Aims: Spinal muscular atrophy (SMA) is a rare genetic disorder characterized by progressive muscle weakness, atrophy, respiratory failure, and in severe cases, infantile death. Early detection and treatment before symptom onset may substantially improve outcomes, allowing patients to achieve age-appropriate motor milestones and longer survival. We assessed the cost-utility of newborn screening (NBS) for SMA in Japan.
View Article and Find Full Text PDFJ Cachexia Sarcopenia Muscle
December 2024
Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Center for Musculoskeletal Surgery, Berlin, Germany.
Radiographics
January 2025
From the Departments of Radiology (A.B.D., A.A., E.H.M., A.A.B., V.G.) and Neurology (A.S.M., K.H.M., S.L.C.), Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224; Department of Neurology, Mayo Clinic, Rochester, MN (N.K., E.S., E.P.F.); and Department of Medical, Surgical and Experimental Sciences, University of Sassari, Sassari, Italy (E.S.).
Neurol Sci
December 2024
Scientific Institute I.R.C.C.S. "E. Medea", Scientific Direction, Via Don L. Monza 20, Bosisio Parini (LC), 23842, Italy.
Objective: Individuals diagnosed with Spinal Muscular Atrophy (SMA), particularly those presenting with the most severe phenotypes, have long contended with significant swallowing dysfunction. The recent emergence of efficacious advanced therapy has fundamentally altered the landscape of SMA management. By encompassing both the pre and post gene-based therapy eras within our analysis, we endeavour to elucidate the potential impact of these novel therapeutic interventions on this function.
View Article and Find Full Text PDFEur J Pediatr
December 2024
Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Onasemnogene abeparvovec (OA) is a novel gene replacement therapy for patients with spinal muscular atrophy (SMA). This study provides real-world respiratory data for pediatric SMA patients receiving OA who were assessed before and one year after treatment in a multicenter cohort study conducted from 2019 to 2021. Twenty-five OA-treated SMA patients (23 with type 1 and 2 with type 2; median age at treatment 6.
View Article and Find Full Text PDFHistochem Cell Biol
December 2024
National Research Centre, Kurchatov Institute, 1, Akademika Kurchatova Pl., 123182, Moscow, Russian Federation.
The intercommunication between nerves and muscles plays an important role in the functioning of our body, and its failure leads to severe neuromuscular disorders such as spinal muscular atrophy and amyotrophic lateral sclerosis. Understanding the cellular and molecular mechanisms underlying nerve-muscle interactions and mediating their mutual influence is an integral part of strategies aimed at curing neuromuscular diseases. Here, we propose a novel ex vivo experimental model for the spinal cord (SC) and skeletal muscle interactions which for the first time utilizes only fully formed (but not yet quite functional) postnatal tissues.
View Article and Find Full Text PDFEur J Obstet Gynecol Reprod Biol
January 2025
Andhra Medical College, Vishakapatnam, Andhra Pradesh, India.
Gene Ther
November 2024
Division of Neurology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand.
Muscle Nerve
November 2024
Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY, USA.
J Clin Med
November 2024
UOC Clinica Neurologica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.
Motor unit number estimation (MUNE) methods are crucial for estimating lower motor neuron loss in motor neuron diseases. The MScanFit MUNE (MScanFit) is a novel method that estimates MUNE values from compound motor action potential (CMAP) scans, demonstrating high sensitivity and reproducibility in detecting motor unit loss in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). In this study, we aimed to characterize the pattern of motor unit loss in the hand intrinsic muscles of SMA patients compared to ALS patients and healthy controls (HC) using MScanFit MUNE.
View Article and Find Full Text PDFGenes (Basel)
November 2024
Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.
Genes (Basel)
October 2024
Unit of Medical Genetics and Genomics, San Bortolo Hospital, ULSS n.8 "Berica", 36100 Vicenza, Italy.
Neuromuscular disorders (NMDs) encompass a broad range of hereditary and acquired conditions that affect motor units, significantly impacting patients' quality of life and reproductive health. This narrative review aims to explore in detail the reproductive challenges associated with major hereditary NMDs, including Charcot-Marie-Tooth disease (CMT), dystrophinopathies, Myotonic Dystrophy (DM), Facioscapulohumeral Muscular Dystrophy (FSHD), Spinal Muscular Atrophy (SMA), Limb-Girdle Muscular Dystrophy (LGMD), and Amyotrophic Lateral Sclerosis (ALS). Specifically, it discusses the stages of diagnosis and genetic testing, recurrence risk estimation, options for preimplantation genetic testing (PGT) and prenatal diagnosis (PND), the reciprocal influence between pregnancy and disease, potential obstetric complications, and risks to the newborn.
View Article and Find Full Text PDFInt J Mol Sci
November 2024
Department of Basic Medical Sciences, Institute of Biomedical Technologies (ITB), Universidad de La Laguna, 38200 San Cristobal de la Laguna, Spain.
Spinal muscular atrophy (SMA) is caused by a deficiency of the ubiquitously expressed survival motor neuron (SMN) protein. The main pathological hallmark of SMA is the degeneration of lower motor neurons (MNs) with subsequent denervation and atrophy of skeletal muscle. However, increasing evidence indicates that low SMN levels not only are detrimental to the central nervous system (CNS) but also directly affect other peripheral tissues and organs, including skeletal muscle.
View Article and Find Full Text PDFInt J Mol Sci
November 2024
Department of Health Pharmacy, Yokohama University of Pharmacy, 601 Matano, Totsuka, Yokohama 245-0066, Japan.
Int J Mol Sci
November 2024
Research Centre for Medical Genetics, 115522 Moscow, Russia.
The androgen receptor (AR) is critical for mediating the effects of androgens. The polymorphic CAG locus in exon 1 of the gene is associated with several diseases, including spinal and bulbar muscular atrophy (SBMA), prostate cancer, and male infertility. This study evaluated the CAG locus in 9000 infertile Russian men and 286 fertile men (control group).
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