Home Page: Neuromuscular Disorders

Time 2021-01-07 13:04:28

Web Name: Home Page: Neuromuscular Disorders

WebSite: http://www.nmd-journal.com

ID:159533

Keywords:

Page,Home,Disorders,

Description:

Issue Highlights Commentary from the EditorAnders OldforsDOI: https://doi.org/10.1016/j.nmd.2020.12.008Vol. 31, Issue 1, p1 4Published in issue: January 2021Full-Text HTMLPDFDysphagia in adult myopathiesZohar Argov, Marianne de VisserDOI: https://doi.org/10.1016/j.nmd.2020.11.001Vol. 31, Issue 1, p5 20Published online: November 13, 2020Full-Text HTMLPDFPresynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporterPedro M. Rodríguez Cruz, Imelda Hughes, Adnan Manzur, Pinki Munot, Sithara Ramdas, Ronnie Wright, Catherine Breen, Mathew Pitt, Alistair T. Pagnamenta, Jenny C. Taylor, Jacqueline Palace, David BeesonDOI: https://doi.org/10.1016/j.nmd.2020.10.006Vol. 31, Issue 1, p21 28Published online: October 19, 2020Full-Text HTMLPDFSupplemental Materials Isokinetic strength and degeneration of lower extremity muscles in patients with Myotonic Dystrophy; an MRI studyC.H. Steenkjaer, R.A. Mencagli, M. Vaeggemose, H. AndersenDOI: https://doi.org/10.1016/j.nmd.2020.12.011Publication stage: In Press Journal Pre-ProofPreviewFull-Text HTMLPDFxMyotonic dystrophy type 1 (DM1) is the most common adult-onset inherited muscular dystrophy characterized by progressive weakness of facial and distal skeletal muscles and myotonia [1]. Histological examinations and MRI scans have demonstrated muscle degeneration in DM1 including muscular fat infiltration and muscular atrophy. These abnormalities are primarily found in the distal muscles, most notably Mm. gastrocnemius caput mediale, soleus and tibialis anterior in the lower extremities [2-5] and M.Maintenance treatment with subcutaneous immunoglobulins in the long-term management of anti-HMCGR myopathy.Angela Zuppa, Chiara Demichelis, Giuseppe Meo, Valeria Prada, Chiara Gemelli, Maria Infantino, Mariangela Manfredi, Giampaola Pesce, Alberto S. Tagliafico, Luana Benedetti, Chiara Fiorillo, Angelo Schenone, Luca Quartuccio, Marina GrandisDOI: https://doi.org/10.1016/j.nmd.2020.12.012Publication stage: In Press Journal Pre-ProofPreviewFull-Text HTMLPDFxAnti-3-hydroxy-3-methyl-glutaryl-coenzyme A reductase (HMGCR) myopathy is a rare, disabling, auto-immune myopathy with necrotizing pathological features, that usually follows statin exposure. Generally, patients present with proximal muscle weakness, elevated CK levels and high titres of antibodies against HMGCR [1] that persist despite statins discontinuation, while improvement typically follows the start of immunotherapy [2].Respiratory decline in adult patients with Becker muscular dystrophy: a longitudinal studyBram De Wel, Sofie Willaert, Aleksandra Nadaj-Pakleza, Anne-Catherine Aubé-Nathier, Dries Testelmans, Bertien Buyse, Kristl G. ClaeysDOI: https://doi.org/10.1016/j.nmd.2020.12.010Publication stage: In Press Journal Pre-ProofPreviewFull-Text HTMLPDFSupplemental MaterialsxBecker muscular dystrophy (BMD) is an X-linked neuromuscular disease, caused by a genetic defect in the Duchenne Muscular Dystrophy (DMD) gene, leading to a deficient, less functional dystrophin protein. In contrast, DMD is caused by a complete absence of dystrophin protein and is accompanied by a more severe phenotype. In general, in-frame mutations lead to a BMD phenotype and out of frame mutations to DMD, although exceptions occur.[1] BMD is a rare disease with a prevalence of around 2.5/100.000.Persistently elevated CK and lysosomal storage myopathy associated with Mucolipin 1 defectsAlberto A. Zambon, Alexandra Lemaigre, Rahul Phadke, Stephanie Grunewald, Caroline Sewry, Anna Sarkozy, Emma Clement, Francesco Muntoni, Genomics England Research ConsortiumDOI: https://doi.org/10.1016/j.nmd.2020.12.009Publication stage: In Press Journal Pre-ProofPreviewFull-Text HTMLPDFxMucolipidosis type IV (MLIV; OMIM 252650 ) is a rare autosomal recessive lysosomal storage disorder caused by bi-allelic pathogenic variants in the gene MCOLN1 (OMIM: 605248 ) [1]. This encodes mucolipin-1 (ML1), an endo-lysosomal transmembrane Ca++ channel involved in vesicular trafficking of lipids and proteins, exocytosis and fusion [2-4].Nusinersen Treatment of Older Children and Adults with Spinal Muscular AtrophyChamindra G. Konersman, Emily Ewing, Burt Yaszay, John Naheedy, Susan Murphy, Andrew SkalskyDOI: https://doi.org/10.1016/j.nmd.2020.12.006Publication stage: In Press Journal Pre-ProofPreviewFull-Text HTMLPDFxSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder with an incidence of 1 in 11,000 livebirths, and the most common genetic cause of infant mortality [1]. SMA is caused by homozygous deletions or mutations in the survival motor neuron 1 (SMN1) gene, resulting in decreased expression of survival motor neuron (SMN) protein and subsequent degradation of motor neurons in the spinal cord [1]. This mutation causes a reliance on the survival motor neuron 2 (SMN2) gene, which differs by a single C T nucleotide within exon 7 that abolishes an exonic splicing enhancer region, resulting in aberrant splicing of a messenger ribonucleic acid (mRNA) devoid of exon 7 (SMNΔ7) [2]. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional careEugenio Mercuri, Richard S. Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S. Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H. Meyer, Anita K. Simonds, Mary K. Schroth, Robert J. Graham, Janbernd Kirschner, Susan T. Iannaccone, Thomas O. Crawford, Simon Woods, Ying Qian, Thomas Sejersen for the SMA Care GroupDOI: https://doi.org/10.1016/j.nmd.2017.11.005Vol. 28, Issue 2, p103 115Published online: November 23, 2017Open AccessFull-Text HTMLPDFSupplemental MaterialsDiagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethicsRichard S. Finkel, Eugenio Mercuri, Oscar H. Meyer, Anita K. Simonds, Mary K. Schroth, Robert J. Graham, Janbernd Kirschner, Susan T. Iannaccone, Thomas O. Crawford, Simon Woods, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S. Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Ying Qian, Thomas Sejersen for the SMA Care groupDOI: https://doi.org/10.1016/j.nmd.2017.11.004Vol. 28, Issue 3, p197 207Published online: November 22, 2017Open AccessFull-Text HTMLPDFSupplemental MaterialsNusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE studyDarryl C. De Vivo, Enrico Bertini, Kathryn J. Swoboda, Wuh-Liang Hwu, Thomas O. Crawford, Richard S. Finkel, Janbernd Kirschner, Nancy L. Kuntz, Julie A. Parsons, Monique M. Ryan, Russell J. Butterfield, Haluk Topaloglu, Tawfeg Ben-Omran, Valeria A. Sansone, Yuh-Jyh Jong, Francy Shu, John F. Staropoli, Douglas Kerr, Alfred W. Sandrock, Christopher Stebbins, Marco Petrillo, Gabriel Braley, Kristina Johnson, Richard Foster, Sarah Gheuens, Ishir Bhan, Sandra P. Reyna, Stephanie Fradette, Wildon Farwell on behalf of the NURTURE Study GroupDOI: https://doi.org/10.1016/j.nmd.2019.09.007Vol. 29, Issue 11, p842 856Published online: September 12, 2019Open AccessFull-Text HTMLPDFSupplemental Materials229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017Volker Straub, Alexander Murphy, Bjarne Udd on behalf of the LGMD workshop study groupDOI: https://doi.org/10.1016/j.nmd.2018.05.007Vol. 28, Issue 8, p702 710Published online: May 24, 2018Full-Text HTMLPDFSupplemental Materials224th ENMC International Workshop:: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14–16 October 2016Yves Allenbach, Andrew L. Mammen, Olivier Benveniste, Werner Stenzel on behalf of the Immune-Mediated Necrotizing Myopathies Working GroupDOI: https://doi.org/10.1016/j.nmd.2017.09.016Vol. 28, Issue 1, p87 99Published online: October 23, 2017Full-Text HTMLPDF Access this journal on ScienceDirect Visit ScienceDirect to see if you have access via your institution. Full-text articles are available from 1991 to the present. Access to abstracts is complimentary. Access to full text is limited to print subscribers. Register or login to: Activate Online Access World Muscle Society members: Log in here for direct access to the full-text journal. This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). It shall be the Aims of the WMS: to provide a multidisciplinary scientific forum to advance and disseminate knowledge in the neuromuscular field for the benefit of patients; to stimulate, encourage and help to develop programs for professionals working in the neuromuscular field; to encourage multidisciplinary collaboration; to provide opportunities for young investigators in the neuromuscular field; to promote the achievement of standards in clinical practice.

TAGS:Page Home Disorders 

<<< Thank you for your visit >>>

Hot Websites