4,132 results match your criteria: "Congenital Muscular Dystrophy"
Acta Neuropathol Commun
December 2024
Institute of Myology, Neuromuscular Morphology Unit, Sorbonne Université, INSERM, GHU Pitié-Salpêtrière, Paris, France.
Neuromuscular disorders (NMD) with neonatal or early infantile onset are usually severe and differ in symptoms, complications, and treatment options. The establishment of a diagnosis relies on the combination of clinical examination, morphological analyses of muscle biopsies, and genetic investigations. Here, we re-evaluated and classified a unique collection of 535 muscle biopsies from NMD infants aged 0-6 months examined over a period of 52 years.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.
Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patients and establish robust genotype-phenotype associations in titinopathies. This study involved analyzing molecular, clinical, pathological, and muscle imaging features in 20 patients who had at least one pathogenic or likely pathogenic variant in MTT-only exons, with onset occurring antenatally or in the early postnatal stages.
View Article and Find Full Text PDFCell Mol Life Sci
December 2024
Institute of Genetics and Molecular and Cellular Biology (IGBMC), INSERM U1258, CNRS UMR7104, University of Strasbourg, 1 rue Laurent Fries, Illkirch, 67404, France.
Int Orthop
December 2024
Laboratory for Mineralized Tissues, University of Zagreb School of Medicine, Zagreb, Croatia.
Congenital muscular dystrophy (CMD) is a group of rare neuromuscular disorders typically characterized by the onset of symptoms at birth or within the first two years of life. CMDs are relatively rare, but extremely severe pathological conditions currently without a safe and effective therapeutic solution. Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is among the most frequent CMDs and it is caused by mutations in the LAMA2 gene that encodes for the α2 chain of laminin-211 (merosin).
View Article and Find Full Text PDFEur J Obstet Gynecol Reprod Biol
January 2025
Andhra Medical College, Vishakapatnam, Andhra Pradesh, India.
Genes (Basel)
October 2024
Department of Pathology, College of Medicine, Qassim University, Buraidah 51452, Saudi Arabia.
Bethlem myopathy is a rare genetic disease caused by a variant mapped to 21q22, which harbors the collagen type VI alpha 2 chain and collagen type VI alpha 1 chain ( genes, and 2q37, which harbors the collagen type VI alpha 3 chain () gene. Disease onset can occur at any age, and the symptoms are related to those of muscular dystrophy. Since Bethlem myopathy is a rare disease, no previous studies have been conducted in Arab countries, including Saudi Arabia.
View Article and Find Full Text PDFBiomolecules
November 2024
Department of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Collagen VI is an essential component of the extracellular matrix (ECM) composed by α1, α2 and α3 chains and encoded by , and genes. Dominant negative pathogenic variants in genes result in defects in collagen VI protein and are implicated in the pathogenesis of muscular diseases, including Ullrich congenital muscular dystrophy (UCMD). Here, we designed a CRISPR genome editing strategy to tackle a dominant heterozygous deletion c.
View Article and Find Full Text PDFBioengineering (Basel)
October 2024
Faculty of Mechanics, University of Craiova, 200478 Craiova, Romania.
This research addresses a feasibility study for validating an exoskeleton with kinematic considerations. The designed exoskeleton will be used for children with congenital disorders, especially for a case study characterized by Duchenne muscular dystrophy (DMD). The research core focuses on virtual simulations carried out through the multibody systems theory under an MSC Adams 2012 software environment, with an exoskeleton constructive solution.
View Article and Find Full Text PDFNat Commun
November 2024
Aix-Marseille Univ, INSERM, Marseille Medical Genetics (MMG), Marseille, France.
Cardiopharyngeal mesoderm contributes to the formation of the heart and head muscles. However, the mechanisms governing cardiopharyngeal mesoderm specification remain unclear. Here, we reproduce cardiopharyngeal mesoderm specification towards cardiac and skeletal muscle lineages with gastruloids from mouse embryonic stem cells.
View Article and Find Full Text PDFZh Nevrol Psikhiatr Im S S Korsakova
November 2024
Saint Petersburg State Pediatric Medical University, St. Petersburg, Russia.
Objective: To evaluate the impact of regular hydrokinesotherapy sessions and indicators of cardiorespiratory functions on the motor abilities of patients with hereditary myopathy of childhood.
Material And Methods: The study included 63 patients with genetically confirmed hereditary myopathy. Group 1 included 32 patients with Duchenne muscular dystrophy (DMD) who were in the early ambulatory stage.
Tohoku J Exp Med
November 2024
Department of Pediatrics, Tokyo Women's Medical University, School of Medicine.
Cardiol Young
November 2024
Department of Paediatric Cardiology, Istanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Aim: This study aims to evaluate the clinical characteristics and outcomes of children diagnosed with sinus node dysfunction.
Methods: This was a retrospective review of patients diagnosed with sinus node dysfunction in two tertiary paediatric cardiology centres in Turkey from January 2011 to June 2022.
Results: In all, 77 patients (50, 64.
Mol Genet Genomic Med
November 2024
Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC), Royal Care Super Speciality Hospital, Coimbatore, India.
Background: Targeted next generation sequence analyses in a cohort of 961 previously described patients with clinically suspected Duchene muscular dystrophy (DMD) revealed that 145/961 (15%) had variants in genes associated with other muscular dystrophies (OMDs).
Methods: NGS was carried out in DMD negative patients after deletion/duplication analysis followed by WES for No variant cases.
Results: The majority of patients with OMDs had autosomal recessive diseases that included Limb-Girdle Muscular Dystrophies (LGMDs), Bethlem, Ullrich congenital Myopathies and Emery-Driefuss muscular dystrophy.
JTCVS Open
October 2024
Department of Cardiovascular and Thoracic Surgery, Norton Children's Hospital, University of Louisville School of Medicine, Louisville, Ky.
Mol Genet Genomic Med
November 2024
Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, Mali.
Background: Congenital muscular dystrophies (CMDs) are diverse early-onset conditions affecting skeletal muscle and connective tissue. This group includes collagen VI-related dystrophies such as Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM), caused by mutations in the COL6A1, COL6A2 and COL6A3 genes. We report a consanguineous Malian family with three siblings affected by UCMD due to a novel homozygous splice site variant in the COL6A1 gene.
View Article and Find Full Text PDFJ Biomol Struct Dyn
November 2024
Department of Biosciences, Jamia Millia Islamia, New Delhi, India.
Clinical phenotypic presentations associated with LAMA2 deficiency have shown a variety of manifestations. LAMA2 mutations are mainly linked to congenital muscular dystrophy, but there is also mounting evidence suggesting their presence in inflammatory breast cancer, laryngopharyngeal squamous cell carcinoma, and ventricular tachycardia related to coronary artery disease and cardiomyopathy. This study examined the structural and functional impacts of 144 non-synonymous single nucleotide polymorphisms (nsSNPs) within the LAMA2 gene.
View Article and Find Full Text PDFNeuromuscul Disord
December 2024
TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Neurology
November 2024
From the Department of Neurology (A.R.S., M.M., D.S., T.L.), Mayo Clinic, Rochester, MN; Department of Laboratory Medicine and Pathology (O.N.), Hennepin Healthcare, Minneapolis, MN; Department of Neurology (A.C.M.), University of North Carolina, Chapel Hill; Department of Neurology (A.S.), Northwestern University, Chicago, IL; Division of Rheumatology (C.H.), Department of Medicine, Northwestern University, Chicago, IL; Departments of Laboratory Services (W.F.R.), Neurology (M.M.A.), and Medicine (R.M.A.), Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia; Center for Gene Therapy (S.N.), Nationwide Children's Hospital, Columbus, OH; and Department of Medicine (P.S.), Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Acta Myol
September 2024
Neuromuscular Unit, Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy.
Introduction And Aims: We describe a case of long-living COLQ-related congenital myasthenic syndrome (CMS) benefitting from ephedrine with an overall improvement quantified with functional measures.
Results: A 71-year-old man was referred with limb-girdle/axial myopathy and fatigability since infancy. In his thirties, a decremental response was observed at 3Hz-nerve stimulation, although testing seronegative for anti-neuromuscular junction antibodies.
Front Cardiovasc Med
October 2024
Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Ann Clin Transl Neurol
December 2024
Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.
Antibodies (Basel)
October 2024
BioMedicine Design, Discovery and Early Development, Pfizer Research and Development, 610 Main Street, Cambridge, MA 02139, USA.
BMC Neurol
October 2024
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Background: SELENON-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive axial muscle weakness, rigidity of the spine, scoliosis, and respiratory insufficiency. Laminin-a2-related muscular dystrophy (LAMA2-MD) has a similar clinical phenotype, which ranges from severe, early-onset congenital muscular dystrophy type 1A (MDC1A) to milder forms presenting as childhood- or adult-onset limb-girdle type muscular dystrophy. The first 1.
View Article and Find Full Text PDFBMC Vet Res
October 2024
Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, Faculty of Health and Lifesciences, University of Liverpool, William Henry Duncan Building, 6 West Derby Street, Liverpool, L7 8TX, UK.
Inherited and acquired muscle diseases are an important cause of morbidity and mortality in human medical and veterinary patients. Researchers use models to study skeletal muscle development and pathology, improve our understanding of disease pathogenesis and explore new treatment options. Experiments on laboratory animals, including murine and canine models, have led to huge advances in congenital myopathy and muscular dystrophy research that have translated into clinical treatment trials in human patients with these debilitating and often fatal conditions.
View Article and Find Full Text PDFEMBO J
December 2024
Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, USA.