10,893 results match your criteria: "Congenital Myopathies"
Pediatr Blood Cancer
January 2025
Division of Pediatric Hematology and Oncology, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
Biochemistry
November 2024
Department of Cell and Molecular Biology, John A. Burns School of Medicine, University of Hawaii, Honolulu, Hawaii 96813, United States.
Childs Nerv Syst
December 2024
"C.N.S. Alliance" Research Group, Athens, Greece.
Cureus
September 2024
Department of Anesthesiology, Moffitt Cancer Center, Tampa, USA.
Life Sci Alliance
December 2024
https://ror.org/01c27hj86 Centre for Ecology, Evolution and Environmental Changes (CE3C) & CHANGE, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal
Kardiol Pol
October 2024
Department of Pediatric Cardiology and Congenital Heart Defects, Medical University of Silesia, Silesian Center for Heart Diseases, Zabrze, Poland.
Ups J Med Sci
October 2024
Clinical Epidemiology Division, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
Background: Myotonic dystrophy type 1 (DM1) is a monogenetic disease affecting many organs. Gastrointestinal symptoms are prevalent and of considerable consequences for affected individuals. The life expectancy is shortened and the objective of the study is to evaluate if gastrointestinal symptoms can predict the outcome of the disease.
View Article and Find Full Text PDFActa Neuropsychiatr
October 2024
CarVasCare Research Group, Facultad de Enfermería de Cuenca, Universidad de Castilla-La Mancha, Cuenca, Spain.
There is a high prevalence of neuropsychiatric disorders in myotonic dystrophy types 1 and 2 (DM1 and DM2), including autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) in DM1, and depression and anxiety in both DMs. The aim of this systematic review and meta-analysis was to estimate the prevalence of ASD, ADHD, depression and anxiety in the population with DM, and their association with disease onset. A systematic search of Medline, Scopus, Web of Science, and the Cochrane Library was conducted from inception to November 2023.
View Article and Find Full Text PDFJ Med Case Rep
October 2024
Golestan Rheumatology Research Center, Golestan University of Medical Sciences, Gorgan, Iran.
Muscle Nerve
January 2025
Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Stem Cell Res Ther
October 2024
Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, 53 Kawahara-Cho, Shogoin, Sakyo-Ku, Kyoto, 606-8507, Japan.
Background: Ullrich congenital muscular dystrophy (UCMD) is caused by a deficiency in type 6 collagen (COL6) due to mutations in COL6A1, COL6A2, or COL6A3. COL6 deficiency alters the extracellular matrix structure and biomechanical properties, leading to mitochondrial defects and impaired muscle regeneration. Therefore, mesenchymal stromal cells (MSCs) that secrete COL6 have attracted attention as potential therapeutic targets.
View Article and Find Full Text PDFJ Mol Neurosci
October 2024
Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.
Collagen VI-related dystrophies (COL6-RD) display a wide spectrum of disease severity and genetic variability ranging from mild Bethlem myopathy (BM) to severe Ullrich congenital muscular dystrophy (UCMD) and the intermediate severities in between with dual modes of inheritance, dominant and recessive. In the current study, next-generation sequencing demonstrated potential variants in the genes coding for the three alpha chains of collagen VI (COL6A1, COL6A2, or COL6A3) in a cohort of Egyptian patients with progressive muscle weakness (n = 23). Based on the age of disease onset and the patient clinical course, subjects were diagnosed as follows: 12 with UCMD, 8 with BM, and 3 with intermediate disease form.
View Article and Find Full Text PDFJ Hand Surg Am
December 2024
Division of Orthopaedics, The Children's Hospital of Philadelphia, Philadelphia, PA. Electronic address:
Orphanet J Rare Dis
September 2024
National Clinical Research Center for Metabolic Diseases, Institute of Metabolism and Endocrinology, Central South University, Hunan Provincial Key Laboratory of Metabolic Bone Diseases, and Department of Metabolism and Endocrinology, The Second Xiangya Hospital of Central South University, 139 Middle Renmin Road, Changsha, Hunan, 410011, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2024
Department of Pediatrics, Women and Children's Hospital Affiliated to Ningbo University, Ningbo, Zhejiang 315012, China.
J Clin Med
September 2024
The NeMO Clinical Center in Milan, 20162 Milan, Italy.
Sleep disorders have been poorly described in congenital (CDM) and childhood (ChDM) myotonic dystrophy despite being highly burdensome. The aims of this study were to explore sleep disorders in a cohort of Italian CDM and ChDM and to assess their association with motor and respiratory function and disease-specific cognitive and behavioral assessments. This was an observational multicenter study.
View Article and Find Full Text PDFJ Med Genet
October 2024
Department of Cell Biology and Genetics, School of Basic Medical Sciences, Guangxi Medical University, Nanning, Guangxi, China
Duchenne muscular dystrophy (DMD) is a commonly encountered genetic ailment marked by loss-of-function mutations in the gene, ultimately resulting in progressive debilitation of skeletal muscle. The investigation into the pathogenesis of DMD has increasingly converged on the role of histone modifications within the broader context of epigenetic regulation. These modifications, including histone acetylation, methylation and phosphorylation, are catalysed by specific enzymes and play a critical role in gene expression.
View Article and Find Full Text PDFRadiographics
October 2024
From the Department of Radiology, Hospital Universitario Marqués de Valdecilla, Instituto de Investigación Sanitaria Valdecilla (IDIVAL), Santander, Spain (S.C.S.); and Departments of Radiology (R.G.R., E.M.O.A.) and Oral and Maxillofacial Surgery (M.F.M.G., F.J.R.C., V.E.H.), Hospital Universitario de La Princesa, Madrid, Spain.
HGG Adv
September 2024
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:
Biallelic pathogenic variants in the gene encoding nebulin (NEB) are a known cause of congenital myopathy. We present two brothers with congenital myopathy and compound heterozygous variants (NC_000002.12:g.
View Article and Find Full Text PDFMov Disord
December 2024
Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, İstanbul, Turkey.
Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a common recessive ataxia that is still underdiagnosed worldwide. An easily accessible diagnostic biomarker might help to diagnostically confirm patients presenting SACS variants of unknown significance (VUS) or atypical phenotypes.
Objectives: To detect sacsin in peripheral blood mononuclear cells (PBMCs) and to validate its diagnostic biomarker quality to discriminate biallelic SACS patients (including patients with VUS and/or atypical phenotypes) against healthy controls, non-ARSACS spastic ataxia patients, and heterozygous SACS carriers.
Medicine (Baltimore)
September 2024
Department of Oral and Maxillofacial Surgery, the 940th Hospital of Joint Logistics Support Force of PLA, Lanzhou, China.
Respir Res
September 2024
Oishei Children's Hospital, Jacobs School of Medicine and Biomedical Sciences, Oishei Children's Hospital University at Buffalo, Buffalo, NY, USA.
X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy. Most (80%) children with XLMTM have profound muscle weakness and hypotonia at birth resulting in severe respiratory insufficiency, the inability to sit up, stand or walk, and early mortality. At birth, 85-90% of children with XLMTM require mechanical ventilation, with more than half requiring invasive ventilator support.
View Article and Find Full Text PDFBehav Neurol
September 2024
Child Neurology and Psychiatry Unit, AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Introduction: AADCd is an ultrarare, underdiagnosed neurometabolic disorder for which a screening test (3-OMD dosing on dried blood spot (DBS)) and targeted gene therapy (authorized in the EU and the UK) are available. Therefore, it is mandatory to raise awareness of presenting symptoms and signs among practitioners. Delivering scientifically sound information to promote screening of patients with the correct cluster of symptoms and signs would be critical.
View Article and Find Full Text PDFInt J Mol Sci
August 2024
Department of Comparative Biomedicine and Food Science, University of Padova, viale dell'Università 16, 35020 Legnaro, Italy.