4,133 results match your criteria: "Congenital Muscular Dystrophy"
Int J Mol Sci
May 2024
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain.
Pathogenic variants in have been associated with a wide spectrum of muscular conditions: the laminopathies. -related congenital muscular dystrophy is a laminopathy characterised by the early onset of symptoms and often leads to a fatal outcome at young ages. Children face a heightened risk of malignant arrhythmias.
View Article and Find Full Text PDFOrphanet J Rare Dis
June 2024
Instituto de Oftalmobiología Aplicada (IOBA), Universidad de Valladolid, Campus Miguel Delibes, Paseo de Belén 17, E-47011, Valladolid, Spain.
Background: The low prevalence of rare diseases poses a significant challenge in advancing their understanding. This study aims to delineate the clinical and genetic characteristics of patients with rare eye diseases (RED) enrolled in the Spanish Rare Diseases Patient Registry.
Methods: A total of 864 patients from the registry database were included.
Cureus
May 2024
Pathology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, IND.
Background: Muscle diseases are of various types, viz., muscular dystrophies, inflammatory myopathies, myotonic disorders, congenital myopathies, and metabolic myopathies. They all present with muscle weakness, be it proximal or distal.
View Article and Find Full Text PDFJ Biol Chem
July 2024
Department of Biochemistry and Microbiology, Institute for Quantitative Biomedicine, Rutgers University, Piscataway, New Jersey, USA.
Polymerizing laminins are multi-domain basement membrane (BM) glycoproteins that self-assemble into cell-anchored planar lattices to establish the initial BM scaffold. Nidogens, collagen-IV and proteoglycans then bind to the scaffold at different domain loci to create a mature BM. The LN domains of adjacent laminins bind to each other to form a polymer node, while the LG domains attach to cytoskeletal-anchoring integrins and dystroglycan, as well as to sulfatides and heparan sulfates.
View Article and Find Full Text PDFFront Genet
May 2024
Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.
Background: Muscular dystrophies and congenital myopathies encompass various inherited muscular disorders that present diagnostic challenges due to clinical complexity and genetic heterogeneity.
Methods: This study aimed to investigate the use of whole exome sequencing (WES) in diagnosing muscular disorders in pediatric patients in Taiwan. Out of 161 pediatric patients suspected to have genetic/inherited myopathies, 115 received a molecular diagnosis through conventional tests, single gene testing, and gene panels.
Neuromuscul Disord
July 2024
Neurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, Serbia.
Congenital myotonic dystrophy type 1 (CDM1) is a rare neuromuscular disease. The aim of our study was to evaluate clinical variability of CDM1 and factors that may influence survival in CDM1. Research included 24 pediatric patients with CDM1.
View Article and Find Full Text PDFBMJ Case Rep
May 2024
Department of Paediatrics, SIMATS Deemed University, Saveetha Medical College and Hospital, Chennai, Tamil Nadu, India.
Curr Issues Mol Biol
April 2024
Preclinical Research Center, Daegu-Gyeongbuk Medical Innovation Foundation (KMEDIHUB), Daegu 41061, Republic of Korea.
Rat animal models are widely used owing to their relatively superior cognitive abilities and higher similarity compared with mouse models to human physiological characteristics. However, their use is limited because of difficulties in establishing embryonic stem cells and performing genetic modifications, and insufficient embryological research. In this study, we established optimal superovulation and fertilized-egg transfer conditions, including optimal hormone injection concentration (≥150 IU/kg of PMSG and hCG) and culture medium (mR1ECM), to obtain high-quality zygotes and establish in vitro fertilization conditions for rats.
View Article and Find Full Text PDFJ Genet Genomics
October 2024
Department of Pediatrics, Peking University First Hospital, Beijing 102600, China; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China. Electronic address:
LAMA2-related congenital muscular dystrophy (LAMA2-CMD), characterized by laminin-α2 deficiency, is debilitating and ultimately fatal. To date, no effective therapy has been clinically available. Laminin-α1, which shares significant similarities with laminin-α2, has been proven as a viable compensatory modifier.
View Article and Find Full Text PDFIntroduction: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to a surge in genes linked to LGMD.
View Article and Find Full Text PDFNeurology
June 2024
From the Department of Neuropediatrics (N.-M.W., M.S., C.W.); Center for Chronically Sick Children (N.-M.W., M.S., C.W.), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin; BIH Charité Junior Clinician Scientist Program (N.-M.W.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy; and Department of Pediatric Radiology (B.L.), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Germany.
Neurology
June 2024
From the Department of Neurology (A.M.P.), Columbia University, New York City; Departments of Pediatrics and Neurology & Neurosurgery (M.O.), McGill University, Montreal, Quebec, Canada; Departments of Neurology (S.W.R.), Biomedical Engineering (S.W.R.), and Obstetrics and Gynecology (S.S.O.), Vanderbilt University Medical Center, Nashville, TN; Northern Michigan Neurology and Munson Medical Center (D.K.D.), Traverse City, MI; Department of Neurology (J.F.), NYU Grossman School of Medicine, New York City; Feinberg School of Medicine (E.E.G.), Northwestern University, Chicago, IL; The NeuroMedical Center (D.G.), Baton Rouge, LA; Epilepsy Foundation (W.R.M.), Bowie, MD; Department of Neurology (H.M.M.C.), Wake Forest University School of Medicine, Winston-Salem, NC; My Epilepsy Story (B.M.), Nashville, TN; Institute of Clinical Neurosciences (K.P.), Royal Prince Alfred Hospital, Sydney, Australia; Department of Neurology (P.B.P.), University of Pittsburgh School of Medicine, PA; Department of Ob-Gyn (G.S.), Eastern Virginia Medical School, Norfolk; Department of Neurology (D.B.S.), University of Colorado School of Medicine, Aurora; Department of Biostatistics, Epidemiology, and Environmental Health Sciences (K.S.), Jiann-Ping Hsu College of Public Health, Georgia Southern University, Statesboro; Department of Neurology (S.V.T.), Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India; Department of Clinical Neuroscience (T.T.), Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden; American Academy of Neurology (M.D.O.B., K.B.-D., H.M.S.), Minneapolis, MN; and Centre Hospitalier de l'Université de Montréal Research Centre (CRCHUM) (M.R.K.), Quebec, Canada.
This practice guideline provides updated evidence-based conclusions and recommendations regarding the effects of antiseizure medications (ASMs) and folic acid supplementation on the prevalence of major congenital malformations (MCMs), adverse perinatal outcomes, and neurodevelopmental outcomes in children born to people with epilepsy of childbearing potential (PWECP). A multidisciplinary panel conducted a systematic review and developed practice recommendations following the process outlined in the 2017 edition of the American Academy of Neurology Clinical Practice Guideline Process Manual. The systematic review includes studies through August 2022.
View Article and Find Full Text PDFClin Genet
September 2024
Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil.
J Transl Med
May 2024
Research Institute of Neuromuscular and Neurodegenerative Disease, Department of Neurology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, West Wenhua Street No.107, Jinan, 250012, Shandong, China.
Inherited deficiency of thymidine phosphorylase (TP), encoded by TYMP, leads to a rare disease with multiple mitochondrial DNA (mtDNA) abnormalities, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). However, the impact of TP deficiency on lysosomes remains unclear, which are important for mitochondrial quality control and nucleic acid metabolism. Muscle biopsy tissue and skin fibroblasts from MNGIE patients, patients with m.
View Article and Find Full Text PDFBMC Anesthesiol
May 2024
Our Lady of Lourdes Hospital, Drogheda, Ireland.
Background: Bethlem Myopathy is a collagen VI-related myopathy presenting as a rare hereditary muscular disorder with progressive muscular weakness and joint contractures. Despite its milder clinical course relative to other myopathies, anaesthetic management can be challenging. High arched palates and fixed flexion deformities may contribute to a difficult airway.
View Article and Find Full Text PDFOrphanet J Rare Dis
May 2024
Department of Neurology, University of Campinas (UNICAMP), School of Medical Sciences, Campinas, Brazil.
Background: X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital disease, which is not well-defined. To our knowledge, no studies characterizing the XLMTM disease burden have been conducted in Brazil. We identified and described patients with suspected XLMTM using administrative claims data from the Brazilian public healthcare system.
View Article and Find Full Text PDFStem Cell Res
June 2024
CERVO Brain Research Centre, Institut Universitaire en Santé Mentale de Québec, Quebec City, QC G1J 2G3, Canada; Department of Medicine, Faculty of Medicine, Université Laval, Quebec City, QC G1V 0A6, Canada. Electronic address:
Congenital myotonic dystrophy (CDM) is a genetic disease caused by an abnormally long CTG repeat expansion in the DMPK gene, which generally increases in size following intergenerational transmission. CDM is the rarest and most severe form of myotonic dystrophy type 1, yet an important number of patient-derived cells are needed to study this heterogeneous disease. Therefore, we have reprogrammed lymphoblastoid cells derived from a 3-year-old male with CDM into induced pluripotent stem cells (iPSCs; CBRCULi015-A) featuring 1800 CTG repeats and characterized their pluripotent state.
View Article and Find Full Text PDFNeuromuscul Disord
June 2024
Division of Neurology, The Hospital for Sick Children, University of Toronto, Toronto, Canada. Electronic address:
LAMA2-related muscular dystrophy is caused by pathogenic variants of the alpha2 subunit of Laminin. This common form of muscular dystrophy is characterized by elevated CK >1000IU/L, dystrophic changes on muscle biopsy, complete or partial absence of merosin staining, and both central and peripheral nervous system involvement. Advancements in genomic testing using NGS and wider application of RNA sequencing has expanded our knowledge of novel non-coding pathogenic variants in LAMA2.
View Article and Find Full Text PDFPediatr Blood Cancer
July 2024
Department of Pediatric Oncology, National Cancer Center Hospital, Tokyo, Japan.
Neuromuscul Disord
June 2024
Childrens Hospital of Eastern Ontario Research Institute, Ottawa, Canada; Centro Nacional de Análisis Genómico, Baldiri Reixac 4, Barcelona 08028, Spain; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany. Electronic address:
Recessive desminopathies are rare and often present as severe early-onset myopathy. Here we report a milder phenotype in three unrelated patients from southern India (2 M, 1F) aged 16, 21, and 22 years, who presented with childhood-onset, gradually progressive, fatigable limb-girdle weakness, ptosis, speech and swallowing difficulties, without cardiac involvement. Serum creatine kinase was elevated, and repetitive nerve stimulation showed decrement in all.
View Article and Find Full Text PDFMinerva Pediatr (Torino)
April 2024
Department of Pediatric and Internal Nursing, Institute of Nursing and Midwifery, Faculty of Health Sciences with Institute of Maritime and Tropical Medicine, Medical University of Gdansk, Gdansk, Poland.
Background: Functional activities are extensively used in motor assessments of patients with Duchenne muscular dystrophy. The role of timed items has been reported as an early prognostic factor for disease progression. However, there are two functional activities that are not widely assessed in clinical practice among Duchenne muscular dystrophy patients: rolling and bed rising.
View Article and Find Full Text PDFJ Med Genet
July 2024
Department of Radiology, Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China
Background: As one of the most common congenital abnormalities in male births, cryptorchidism has been found to have a polygenic aetiology according to previous studies of common variants. However, little is known about genetic predisposition of rare variants for cryptorchidism, since rare variants have larger effective size on diseases than common variants.
Methods: In this study, a cohort of 115 Chinese probands with cryptorchidism was analysed using whole-genome sequencing, alongside 19 parental controls and 2136 unaffected men.
Mol Ther Nucleic Acids
June 2024
Neurogenetics and Neuromuscular Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Collagen VI-related dystrophies (COL6-RDs) are a group of severe, congenital-onset muscular dystrophies for which there is no effective causative treatment. Dominant-negative mutations are common in , , and 3 genes, encoding the collagen α1, α2, and α3 (VI) chains. They act by incorporating into the hierarchical assembly of the three α (VI) chains and consequently produce a dysfunctional collagen VI extracellular matrix, while haploinsufficiency for any of the genes is not associated with disease.
View Article and Find Full Text PDFmedRxiv
March 2024
Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
bioRxiv
March 2024
Neurogenetics and Neuromuscular Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
The application of allele-specific gene editing tools can expand the therapeutic options for dominant genetic conditions, either via gene correction or via allelic gene inactivation in situations where haploinsufficiency is tolerated. Here, we used allele-targeted CRISPR/Cas9 guide RNAs (gRNAs) to introduce inactivating frameshifting indels at a single nucleotide variant in the gene (c.868G>A; G290R), a variant that acts as dominant negative and that is associated with a severe form of congenital muscular dystrophy.
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