4,133 results match your criteria: "Congenital Muscular Dystrophy"
Tech Hand Up Extrem Surg
September 2024
Department of Orthopedic Surgery, Mayo Clinic, Rochester MN.
Periscapular pain and dysfunction are relatively common complaints in the practice of upper extremity surgeons. However, evaluation of the dysfunctional scapula is intimidating for most. Physical examination of the periscapular muscles is very rich, and a systematic approach provides the opportunity to establish a diagnosis for most patients.
View Article and Find Full Text PDFPediatr Dermatol
August 2024
Dermatology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
Megaconial congenital muscular dystrophy (MCMD) is a rare autosomal-recessive multisystem disorder characterized by delayed motor development, intellectual disability, and skin involvement. We report a patient with MCMD who had diffuse ichthyosis-like scaling, and successfully responded to ustekinumab.
View Article and Find Full Text PDFOrphanet J Rare Dis
August 2024
FRIGE Institute of Human Genetics, FRIGE House, Ahmedabad, India.
Mitochondrion
September 2024
McMaster University, Department of Pathology and Molecular Medicine, Hamilton, Ontario, Canada. Electronic address:
Mitochondria form a dynamic network within skeletal muscle. This network is not only responsible for producing adenosine triphosphate (ATP) through oxidative phosphorylation, but also responds through fission, fusion and mitophagy to various factors, such as increased energy demands, oxidative stress, inflammation, and calcium dysregulation. Mitochondrial dysfunction in skeletal muscle not only occurs in primary mitochondrial myopathies, but also other hereditary and acquired myopathies.
View Article and Find Full Text PDFNeurology
September 2024
From the Department of Neurology, University of Rochester, NY.
Biallelic pathogenic variants in have been associated with a rare congenital muscular dystrophy that presents with muscle weakness, short stature, intellectual disability, and early-onset cataracts. A characteristic pattern of muscle involvement has been identified on muscle MRI in a small case series, including involvement of the vasti, anterior tibialis, and peronei with relative sparing of the rectus femoris, sartorius, and gracilis muscles. This case describes a patient who initially presented in infancy with hypotonia, motor delays, and short stature.
View Article and Find Full Text PDFMol Syndromol
August 2024
Departmant of Pediatric Neurology, Dokuz Eylül University, İzmir, Turkey.
Introduction: Mutations in collagen type IV-associated genes lead to Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). gene mutations have rarely been reported in patients with UCMD- and BM-like disorders not involving mutations. UCMD-2 results from homozygous mutations in the gene on the long arm of chromosome 6.
View Article and Find Full Text PDFPostep Psychiatr Neurol
June 2024
Faculty of Medicine, Lazarski University, Warsaw, Poland Abstract.
Purpose: Muscular dystrophy is a group of heterogeneous diseases causing progressive muscle weakness and atrophy. Many types have been defined, including Duchenne/Becker, myotonic, limb-girdle, congenital, and facioscapulohumeral muscular dystrophies. This study aims to present the first patient with both a homozygous mutation and a CCTG expansion in the gene, which suggests the co-occurrence of two diseases in a single patient.
View Article and Find Full Text PDFNeurogenetics
October 2024
Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India.
Neurology
August 2024
From the UOC di Neurologia (S. Bortolani, G.P., C.S., M.L., M. Mirabella, S.S., M. Monforte, E.R., G.T.), Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome; Department of Neurosciences Rita Levi Montalcini (S. Bortolani, T.E.M.), University of Torino, Italy; Folkhälsan Research Center (M.S.), Helsinki, Finland; Department of Neurosciences, Biomedicine and Movement Sciences (G.V., P.T.), University of Verona; Neuroimmunology and Neuromuscular Disorders Unit (S. Bonanno, M.C., A. Ruggieri, L.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Institute of Experimental Neurology (INSPE) (Y.M.F., S.C.P.), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan; ERN-NMD Center for Neuromuscular Disorders of Messina (A. Pugliese, C.R., A.T.), Department of Clinical and Experimental Medicine, University of Messina; Fondazione UILDM Lazio Onlus (G.P., C.S.), Rome; Department of Medicine, Surgery and Neurosciences (D.L., A.M.), University of Siena; Neuromuscular Diseases Unit (G.G., R.M.), Department of Systems Medicine, University of Rome Tor Vergata, Rome; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal Infantile Sciences (C.G., M. Grandis), University of Genoa; IRCCS Ospedale Policlinico San Martino (C.G., M. Grandis), Genova; IRCCS Mondino Foundation (S.R.), Pavia; Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche (R.P.B., L.R.), Università degli Studi di Napoli "Federico II," Naples; Neuromuscular and Rare Diseases Unit (D.V.), Department of Neuroscience and Mental Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Neurology Unit (F.M., G.P.C.), Department of Neuroscience and Mental Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan; IRCCS Institute of Neurological Sciences of Bologna (M.L.V., R.L.), UOC Clinica Neurologica; Department of Biomedical and NeuroMotor Sciences (M.L.V., R.L.), University of Bologna; Università Cattolica del Sacro Cuore (E.T., M. Mirabella, S.S., E.R.); Center for Neuromuscular and Neurological Rare Diseases S. Camillo Forlanini Hospital (A. Petrucci), Rome; Department of Clinical and Experimental Medicine (G.R., G.S.), Neurological Clinic, University of Pisa; Neuromuscular and Rare Disease Center (M. Garibaldi, G. Antonini), Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University, Sant'Andrea Hospital, Rome; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit (G. Astrea, A. Rubegni, F.M.S.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (C.I.A.), University of Padova; Department of Neurosciences (A.A.), University Hospitals of Modena; Department of Clinical and Experimental Sciences (M.F.), University of Brescia; NeMo-Brescia Clinical Center for Neuromuscular Diseases (M.F.), Brescia; Department of Pathophysiology and Transplantation (G.P.C.), Dino Ferrari Center, University of Milan, Italy; and John Walton Muscular Dystrophy Research Centre (J.D.-M., G.T.), Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom.
J Child Neurol
June 2024
Neuropediatrics, Centro de Desenvolvimento da Criança, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.
Neuropathol Appl Neurobiol
August 2024
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Children (Basel)
July 2024
International Center for Spinal Cord Injury, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
This systematic review aims to investigate the relationship between muscle mass and specific health outcomes in pediatric populations with neuromuscular disorders. A search was performed for any relevant studies published in English from 1996 to 2023 in five databases. To be included in this analysis, articles must have had participants with an average age ≤21, focus on children with neuromuscular disabilities, and primarily examine relationships between muscle mass and any functional or health outcomes measure.
View Article and Find Full Text PDFJ Neuromuscul Dis
September 2024
Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.
Introduction: Nuclear envelopathies occur due to structural and/or functional defects in various nuclear envelope proteins such as lamin A/C and lamin related proteins. This study is the first report on the phenotype-genotype patterns of nuclear envelopathy-related muscular dystrophies from India.
Methods: In this retrospective study, we have described patients with genetically confirmed muscular dystrophy associated with nuclear envelopathy.
Front Cardiovasc Med
July 2024
Department of Cellular and Translational Physiology and Institute für Forschung und Lehre (IFL), Institute of Physiology, Molecular and Experimental Cardiology, Ruhr-University Bochum, Bochum, Germany.
Neurol Genet
August 2024
From the Division of Neurology (M.S.A.), Joe DiMaggio Children's Hospital, Hollywood, FL; Division of Neurology (M.S.A., C.T.), Cincinnati Children's Hospital Medical Center, OH; Division of Pathology (C.F.), Upstate Medical University, Syracuse, NY; Division of Pathology (C.F.); Division of Human Genetics (E.K.S., E.U.), Cincinnati Children's Hospital Medical Center; and Department of Pediatrics (E.K.S., C.T.), University of Cincinnati College of Medicine, OH.
Objectives: The gene is a Golgi vesicle transport gene that encodes for the Golgi SNAP receptor complex member 2 protein. This protein mediates transport between the medial and trans-Golgi compartments. The homozygous missense variant in the gene, c.
View Article and Find Full Text PDFInt J Mol Sci
June 2024
Department of Biomedical Sciences for Health, University of Milano, 20133 Milano, Italy.
Mol Ther Nucleic Acids
September 2024
Genetics and Genomic Medicine Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
Gapmer antisense oligonucleotides (ASOs) hold therapeutic promise for allele-specific silencing, but face challenges in distinguishing between mutant and wild-type transcripts. This study explores new design strategies to enhance ASO specificity, focusing on a common dominant mutation in gene associated with Ullrich congenital muscular dystrophy. Initial gapmer ASO design exhibited high efficiency but poor specificity for the mutant allele.
View Article and Find Full Text PDFTransl Pediatr
June 2024
Department of Child Psychology, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Background: Laminin-α2 () chain-deficient muscular dystrophy (-MD) is the most common congenital muscular dystrophy (CMD) in the world. Its main manifestations are muscle weakness and hypotonia that occur after birth or at early infancy.
Case Description: We reported a case of a 3-year-old and 6-month-old boy presented with delayed motor development, elevated creatine kinase (CK) levels, and abnormal white matter in the brain.
Mutations in the alpha-2 subunits of the laminin gene (LAMA2) cause an autosomal recessive congenital muscular dystrophy (CMD) subtype known as laminin a2-related muscular dystrophies (LAMA2-RD). LAMA2-RD can present with a wide range of phenotypes ranging from severe infantile congenital muscular dystrophy to milder adult-onset limb-girdle muscular dystrophy. This case describes a 28-year-old Indian gentleman having childhood-onset focal seizures, gradually progressive proximal predominant lower-limb weakness for the past three years, elevated creatinine phosphokinase levels, and MRI brain suggestive of diffuse symmetrical periventricular white matter hyperintensities.
View Article and Find Full Text PDFCureus
June 2024
Biomedical and Translational Research Laboratory, Faculty of Medicine, Pharmacy and Dentistry, Sidi Mohamed Ben Abdellah University, Fez, MAR.
Eur J Pediatr
September 2024
Division of Neuropediatrics and Developmental Medicine, University Children's Hospital Basel, University of Basel, Basel, Switzerland.
Unlabelled: Duchenne muscular dystrophy is life-limiting. Cardiomyopathy, which mostly ensues in the second decade of life, is the main cause of death. Treatment options are still limited.
View Article and Find Full Text PDFCardiol J
June 2024
Department of Head & Neck Surgery, Singapore General Hospital, Singapore.
Cureus
May 2024
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, JPN.
Neurol Genet
June 2024
From the Neuromuscular and Neurogenetics Disorders of Childhood Section (A.R.F., P.Y., M.E.L., S.B.N., G.V.A., Y.H., L.H.H., S.D., D.X.B.-G., Y.Z., M.F., J.D., C.M., C.A., C.G.B.), Neurogenetics Branch, NINDS, NIH, Bethesda, MD; Division of Neurology (M.E.L.), Oregon Health and Science University, Portland, OR; Department of Neurology (L.H.H.), Boston Children's Hospital, MA; Rehabilitation Medicine Department (M.S.J., M.W.); Occupational Therapy Section (R.P.), Rehabilitation Medicine Department, NIH, Bethesda, MD; Division of Neurology (D.X.B.-G.), Children's National Hospital, Washington, DC; Division of Pulmonology (O.M.), Children's Hospital of Philadelphia, PA; Santhera Pharmaceuticals (R.H., D.P.), Pratteln, Switzerland; and Department of Biostatistics (K.C.), Mailman School of Public Health, Columbia University, NY.
Background And Objectives: Omigapil is a small molecule which inhibits the GAPDH-Siah1-mediated apoptosis pathway. Apoptosis is a pathomechanism underlying the congenital muscular dystrophy subtypes LAMA2-related dystrophy (LAMA2-RD) and COL6-related dystrophy (COL6-RD). Studies of omigapil in the (dy/dy) LAMA2-RD mouse model demonstrated improved survival, and studies in the (dy/dy) LAMA2-RD mouse model and the (Col6a1) COL6-RD mouse model demonstrated decreased apoptosis.
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