3,777 results match your criteria Congenital Muscular Dystrophy


Cancer Malignancy Is Correlated with Upregulation of PCYT2-Mediated Glycerol Phosphate Modification of α-Dystroglycan.

Int J Mol Sci 2022 Jun 15;23(12). Epub 2022 Jun 15.

Exploratory Research Center on Life and Living Systems (ExCELLS), National Institutes of Natural Sciences, 5-1 Higashiyama, Myodaiji, Okazaki 444-8787, Japan.

The dystrophin-glycoprotein complex connects the cytoskeleton with base membrane components such as laminin through unique O-glycans displayed on α-dystroglycan (α-DG). Genetic impairment of elongation of these glycans causes congenital muscular dystrophies. We previously identified that glycerol phosphate (GroP) can cap the core part of the α-DG O-glycans and terminate their further elongation. Read More

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An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation.

Biomedicines 2022 Jun 10;10(6). Epub 2022 Jun 10.

Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.

Myotonic dystrophy type 1 (DM1) is a progressive, non-treatable, multi-systemic disorder. To investigate the contribution of epigenetics to the complexity of DM1, we compared DNA methylation profiles of four annotated CpG islands (CpGis) in the locus and neighbouring genes, in distinct DM1 tissues and derived cells, representing six DM1 subtypes, by bisulphite sequencing. In blood, we found no differences in CpGi 74, 43 and 36 in DNA methylation profile. Read More

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The most severe form of LMNA-associated congenital muscular dystrophy.

Brain Dev 2022 Jun 18. Epub 2022 Jun 18.

Division of Neurology, National Center for Child Health and Development (NCCHD), 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan; Department of Pediatrics, Shimada Ryoiku Medical Center for Challenged Children, 1-31-1 Nakazawa, Tama City, Tokyo 206-0036, Japan.

Alterations in the LMNA gene cause a wide spectrum of diseases collectively called laminopathies. LMNA-associated congenital muscular dystrophy is a form of laminopathy, which usually causes infantile onset of muscle weakness, predominantly in the cervical-axial muscles, and motor developmental retardation. Cardiac symptoms during the first decade of life are rare. Read More

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Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome.

Mol Syndromol 2022 May 3;13(3):240-245. Epub 2022 Feb 3.

Department of Pediatric Metabolism, Faculty of Medicine, Ankara University, Ankara, Turkey.

Introduction: Hypotonia-cystinuria syndrome is a contiguous gene deletion syndrome that is characterized by hypotonia, developmental delay, and cystinuria type A. We present a male patient who was admitted to our center with clinical findings of hypotonia-cystinuria syndrome and diagnosed with megaconial congenital muscular dystrophy and cystinuria.

Case Presentation: A 16-month-old male patient was admitted with complaints of restlessness and body laxity. Read More

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Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease.

Eur J Med Genet 2022 Jun 9;65(8):104537. Epub 2022 Jun 9.

CENTOGENE GmbH Rostock, Germany.

Transcriptional coregulators modulate the efficiency of transcription factors. Bi-allelic variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator ASC-1, have recently been associated with congenital bone fractures, hypotonia, and muscular dystrophy in a total of 22 unrelated families. Upon exome sequencing and data repository mining, we identified six new patients with pathogenic homozygous variants in either TRIP4 (n = 4, two novel variants) or ASCC1 (n = 2, one novel variant). Read More

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Medication use during pregnancy among women with congenital physical disabilities.

Birth Defects Res 2022 Jun 1. Epub 2022 Jun 1.

Department of Epidemiology, Boston University School of Public Health, Boston, Massachusetts, USA.

Background: Medication use during pregnancy is common, with up to 90% of pregnant women taking at least one medication. Women with congenital physical disabilities often report co-occurring conditions during pregnancy that may warrant pharmaceutical treatment, however, research is limited. We aim to describe medication use during pregnancy including: pain, psychotropic, and antibacterial medication, among women with and without congenital physical disabilities. Read More

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Amelioration of muscle and nerve pathology of Lama2-related dystrophy by AAV9-laminin-αLN-linker protein.

JCI Insight 2022 May 31. Epub 2022 May 31.

Department of Pathology & Laboratory Medicine, Rutgers University - Robert Wood Johnson Medical School, Piscataway, United States of America.

LAMA2-deficiency, resulting from a defective or absent laminin α2-subunit, is a common cause of congenital muscular dystrophy. It is characterized by muscle weakness from myofiber degeneration and neuropathy from Schwann cell amyelination. Previously it was shown that transgenic muscle-specific expression of αLNNd, a laminin-γ1-binding linker protein that ena-bles polymerization in defective laminins, selectively ameliorates the muscle abnormality in mouse disease models. Read More

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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.

J Clin Med 2022 May 12;11(10). Epub 2022 May 12.

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain.

Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited neuromuscular disorder (INMD) using comprehensive gene-panel analysis and next-generation sequencing. The rate of diagnosis increased exponentially with the addition of genes to successive versions of the INMD panel, from 31% for the first iteration (278 genes) to 40% for the last (324 genes). Read More

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Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations.

Indian J Pathol Microbiol 2022 May;65(Supplement):S291-S299

Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

Electron microscopy (EM) has a substantial role in the diagnosis of skeletal muscle disorders. The ultrastructural changes can be observed in muscle fibers and other components of the muscle tissue. EM serves as a confirmatory tool where the diagnosis is already established by enzyme histochemistry staining. Read More

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Congenital myopathies: The current status.

Indian J Pathol Microbiol 2022 May;65(Supplement):S271-S276

Charite - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neuropathology, Chariteplatz 1, Berlin, Germany.

Within the history of neuromuscular diseases (NMD), congenital myopathies (CM) represent a relatively new category introduced in the mid-nineteen hundreds upon advent and subsequent application of enzyme histochemistry and electron microscopy by establishing the three major CM, central core disease, nemaline myopathy, and centronuclear myopathy which later pluralized each when the molecular era began at the end of last century. Quickly, during the following 5 decades, many new CM entities were described, based on muscle biopsies and their CM-characteristic myopathology, the former a prerequisite to recognizing an individual CM, the latter of the nosological hallmark of the individual CM. When the molecular era ushered in immunohistochemistry the spectrum and nosography of CM altered in that some CM became allelic to other cohorts of NMD, e. Read More

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Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update.

Indian J Pathol Microbiol 2022 May;65(Supplement):S259-S270

Department of Medical Genetics, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana, India.

Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration. Congenital muscular dystrophies (CMD) include dystroglycanopathies, merosin-deficient CMD, collagen VI-deficient CMD, SELENON-related rigid spine muscular dystrophy, and LMNA-related CMD. Read More

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Basic requirements to establish a neuromuscular laboratory.

Indian J Pathol Microbiol 2022 May;65(Supplement):S233-S240

Department of Neuropathology, NIMHANS, Bangalore, Karnataka, India.

Histopathological analysis of muscle biopsy is a prerequisite in the evaluation of neuromuscular disorders, particularly inflammatory myopathies, metabolic myopathies, congenital myopathies, muscular dystrophies and differentiating myopathies and neurogenic disorders with overlapping clinically features. It not only provides useful information that helps in the diagnosis but also treatment and management. Fundamental skills and basic knowledge regarding handling, processing and analyzing a muscle biopsy are required in any specialized or a general pathology lab supporting neuromuscular clinical services. Read More

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Personalized Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies.

Front Bioeng Biotechnol 2022 25;10:851825. Epub 2022 Apr 25.

Nanobioengineering Group, Institute for Bioengineering of Catalonia (IBEC), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.

Collagen VI-related dystrophies (COL6-RDs) are a group of rare congenital neuromuscular dystrophies that represent a continuum of overlapping clinical phenotypes that go from the milder Bethlem myopathy (BM) to the severe Ullrich congenital muscular dystrophy, for which there is no effective treatment. Mutations in one of the three Collagen VI genes alter the incorporation of this protein into the extracellular matrix (ECM), affecting the assembly and the structural integrity of the whole fibrillar network. Clinical hallmarks of COL6-RDs are secondary to the ECM disruption and include muscle weakness, proximal joint contractures, and distal hyperlaxity. Read More

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Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources.

Clin Neurol Neurosurg 2022 06 2;217:107271. Epub 2022 May 2.

University of Iowa Healthcare, USA. Electronic address:

Aim: Identify the genetic determinants of congenital muscle dystrophy (CMD) in Jordanian children.

Methods: This prospective study included patients suspected to have CMD. Singleton whole-exome sequencing (WES) was performed as the first-tier diagnostic test. Read More

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CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.

Int J Mol Sci 2022 Apr 16;23(8). Epub 2022 Apr 16.

Laboratorio de Investigación Aplicada en Enfermedades Neuromusculares, Unidad de Patología Neuromuscular, Servicio de Neuropediatría, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain.

Collagen VI-related disorders are the second most common congenital muscular dystrophies for which no treatments are presently available. They are mostly caused by dominant-negative pathogenic variants in the genes encoding α chains of collagen VI, a heteromeric network forming collagen; for example, the c.877G>A; p. Read More

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Expanding the Phenotype of B3GALNT2-Related Disorders.

Genes (Basel) 2022 04 14;13(4). Epub 2022 Apr 14.

Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.

Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) that include a broad phenotypic spectrum ranging from late-onset limb-girdle muscular dystrophy to severe muscle-eye-brain disease, Walker-Warburg syndrome, and Fukuyama congenital muscular dystrophy. In addition to clinical heterogeneity, CMDs are characterized by genetic heterogeneity. To date, 18 genes have been associated with CMDs. Read More

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Perioperative total intravenous anesthesia in a child with Walker-Warburg syndrome: A case report.

Saudi J Anaesth 2022 Apr-Jun;16(2):217-220. Epub 2022 Mar 17.

Department of Anesthesia and Critical Care, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Purpose: Walker-Warburg syndrome is a rare autosomal recessive congenital muscular dystrophy presenting with hydrocephalus, type II lissencephaly, cerebellar malformation, and ocular anomalies. Here, we describe the use of perioperative total intravenous anesthesia in a pediatric patient with Walker-Walburg syndrome.

Clinical Features: A 2-month-old girl with Walker-Walburg syndrome was admitted for urgent ventriculoperitoneal shunt insertion. Read More

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Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations.

Mol Ther Nucleic Acids 2022 Jun 16;28:231-248. Epub 2022 Mar 16.

Department of Surgery, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

miR-486 is a myogenic microRNA, and its reduced skeletal muscle expression is observed in muscular dystrophy. Transgenic overexpression of miR-486 using muscle creatine kinase promoter (MCK-miR-486) partially rescues muscular dystrophy phenotype. We had previously demonstrated reduced circulating and skeletal muscle miR-486 levels with accompanying skeletal muscle defects in mammary tumor models. Read More

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FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.

J Med Genet 2022 Apr 7. Epub 2022 Apr 7.

Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

Background: Biallelic pathogenic variants in have recently been associated with two congenital myopathy phenotypes: a severe form associated with hypotonia, long bone fractures, respiratory insufficiency and infantile death, and a milder form characterised by proximal muscle weakness with survival into adulthood.

Objective: We report eight patients from four unrelated families with biallelic pathogenic variants in exon 15 of .

Methods: Whole exome sequencing was used to detect variants in . Read More

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Tibialis Anterior and Posterior Tendon Transfer for Clubfoot Relapse in a Child with Duchenne Muscular Dystrophy: A Case Report.

JBJS Case Connect 2022 04 6;12(2). Epub 2022 Apr 6.

Department of Orthopaedic Surgery, Stanford University School of Medicine, Palo Alto, California.

Case: A boy with bilateral congenital clubfoot, Kleefstra syndrome, and Duchenne muscular dystrophy (DMD) developed clubfoot relapse after excellent initial correction with the Ponseti method and maintenance abduction bracing. A traditional clubfoot tibialis anterior transfer was augmented with a tibialis posterior tendon transfer, given underlying DMD at ages 7 and 10 years for the right foot and left foot, respectively.

Conclusion: This case illustrates successful maintenance of correction using combined tibialis anterior and tibialis posterior tendon transfer. Read More

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Novel Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients.

Front Genet 2022 16;13:825793. Epub 2022 Mar 16.

Department of Pediatrics, Peking University First Hospital, Beijing, China.

Congenital muscular dystrophy with early rigid spine, also known as the rigid spine with muscular dystrophy type 1 (RSMD1), is caused by mutation. We investigated the clinical manifestations, pathological features, and genetic characteristics of 8 Chinese RSMD1 patients in order to improve diagnosis and management of the disease. Eight patients presented with delayed motor development, muscle weakness, hypotonia, and a myopathic face with high palatine arches. Read More

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Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.

J Gene Med 2022 05 6;24(5):e3417. Epub 2022 Apr 6.

Women's Hospital, School of Medicine Zhejiang University, Hangzhou, China.

Background: Congenital hydrocephalus is one of the symptoms of Walker-Warburg syndrome that is attributed to the disruptions of the genes, among which the B3GALNT2 gene is rarely reported. A diagnosis of the Walker-Warburg syndrome depends on the clinical manifestations and the whole-exome sequencing after birth, which is unfavorable for an early diagnosis.

Methods: Walker-Warburg Syndrome was suspected in two families with severe fetal congenital hydrocephalus. Read More

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Nanomaterial for Skeletal Muscle Regeneration.

Tissue Eng Regen Med 2022 04 25;19(2):253-261. Epub 2022 Mar 25.

Department of Orthopedics, Emory Musculoskeletal Institute, Emory School of Medicine, Atlanta, GA, 30329, USA.

Skeletal muscle has an innate regenerative capacity to restore their structure and function following acute damages and injuries. However, in congenital muscular dystrophies, large volumetric muscle loss, cachexia, or aging, the declined regenerative capacity of skeletal muscle results in muscle wasting and functional impairment. Recent studies indicate that muscle mass and function are closely correlated with morbidity and mortality due to the large volume and location of skeletal muscle. Read More

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El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.

Clin Genet 2022 May 12;101(5-6):530-540. Epub 2022 Apr 12.

Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.

Homozygous pathogenic variants in WDR45B were first identified in six subjects from three unrelated families with global development delay, refractory seizures, spastic quadriplegia, and brain malformations. Since the initial report in 2018, no further cases have been described. In this report, we present 12 additional individuals from seven unrelated families and their clinical, radiological, and molecular findings. Read More

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Characteristics and feasibility of ambulatory respiratory assessment of paediatric neuromuscular disease: an observational retrospective study.

Int J Neurosci 2022 Mar 15:1-10. Epub 2022 Mar 15.

Department of Respiratory and Critical Care Medicine, Peking University First Hospital, Beijing, China.

Purpose: To investigate the characteristics of respiratory involvement in Chinese paediatric neuromuscular disease (NMD) at early stage and to explore convenient monitoring methods.

Materials And Methods: Children with NMD (age < 18) diagnosed at a multidisciplinary joint NMD clinic at Peking University First Hospital from January 2016 to April 2021 were included. Overnight polysomnography (PSG) and pulmonary function test (PFT) data were analysed, and the characteristics of four groups: congenital muscular dystrophy (CMD), congenital myopathy, spinal muscular atrophy, and Duchenne muscular dystrophy (DMD) were compared. Read More

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Fukuyama Congenital Muscular Dystrophy.

Cureus 2022 Feb 4;14(2):e21902. Epub 2022 Feb 4.

Radiology, Penn State University, Hershey, USA.

Congenital muscular dystrophy (CMD) is a heterogeneous group of neurological disorders presenting at birth with weakness and hypotonia. Although the diagnosis is finally made through patterns of inheritance and muscle biopsy, the final imaging can be very characteristic in some of the variants, particularly the Fukuyama type of CMD (FCMD). We described the classic imaging findings in a child with this rare condition. Read More

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February 2022

Completely Video-assisted Thoracoscopic Lobectomy for Congenital Lobar Emphysema in a Young Adult.

Acta Med Okayama 2022 Feb;76(1):89-92

Department of Thoracic Surgery, Okayama University Hospital.

Congenital lobar emphysema (CLE) is defined as the hyperinflation of pulmonary lobes due to obstruction of the flow of air via a known or unknown etiology, which causes pressure symptoms in the adjacent organs. CLE is mainly diagnosed in the neonatal period, and very few adult cases have been reported. Here we report a 34-year-old male with muscular dystrophy who was diagnosed with CLE on examination. Read More

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February 2022

FKRP directed fibronectin glycosylation: A novel mechanism giving insights into muscular dystrophies?

Bioessays 2022 05 1;44(5):e2100270. Epub 2022 Mar 1.

Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria, Australia.

The recently uncovered role of Fukutin-related protein (FKRP) in fibronectin glycosylation has challenged our understanding of the basis of disease pathogenesis in the muscular dystrophies. FKRP is a Golgi-resident glycosyltransferase implicated in a broad spectrum of muscular dystrophy (MD) pathologies that are not fully attributable to the well-described α-Dystroglycan hypoglycosylation. By revealing a new role for FKRP in the glycosylation of fibronectin, a modification critical for the development of the muscle basement membrane (MBM) and its associated muscle linkages, new possibilities for understanding clinical phenotype arise. Read More

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Macroglossia in a pig diagnosed as Becker muscular dystrophy due to dystrophin pseudoexon insertion derived from intron 26.

Vet Pathol 2022 05 26;59(3):455-458. Epub 2022 Feb 26.

Azabu University, Sagamihara, Japan.

We report a case of Becker muscular dystrophy in a 6-month-old, mixed-breed, castrated male pig detected with macroglossia at a meat inspection center. The pig presented a severely enlarged tongue extending outside its mouth. The tongue was firm and pale with discolored muscles. Read More

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