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Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-04-14 Kay E Davies, Julie Vogt
Duchenne muscular dystrophy is a neuromuscular disease caused by gene mutations that result in an absence of functional dystrophin protein. Patients with Duchenne experience progressive muscle weakness, are typically wheelchair dependent by their early teens, and develop respiratory and cardiac complications that lead to death in their twenties or thirties.
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Axial involvement as a prominent feature in SMPX-related distal myopathy Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-04-04 D. Salman, C. Bolano-Diaz, R. Muni-Lofra, K. Wong, M. Elseed, E Harris, J. Diaz-Manera, M. Guglieri, C. Marini-Bettolo, V. Straub, G. Tasca
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Comments on ‘Life-threatening bowel complications in adults with Duchenne muscular dystrophy: A case series’ - Response Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-03-23 Luca Nart, Anton Emmanuel, Rosaline Quinlivan
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Comments on ‘Life-threatening bowel complications in adults with Duchenne muscular dystrophy: a case series’ Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-03-21 Sabri Selcuk Atamanalp, Esra Disci, Rifat Peksoz
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Mycophenolate and methotrexate are better tolerated than azathioprine in myasthenia gravis Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-03-21 Katherine C Dodd, Rohan Ahmed, Philip Ambrose, James KL Holt, Saiju Jacob, M Isabel Leite, James AL Miller, Pyae Phyo San, Jennifer Spillane, Stuart Viegas, Jon Sussman
Azathioprine is recommended as the first-line steroid-sparing immunosuppressive agent for myasthenia gravis. Mycophenolate and methotrexate are often considered as second-line choices despite widespread consensus on their efficacy. We aimed to gather real-world data comparing the tolerability and reasons for discontinuation for these agents, by performing a national United Kingdom survey of side effects
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Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-03-15 Emily C Storey, Ian Holt, Sharon Brown, Silvia Synowsky, Sally Shirran, Heidi R Fuller
-related congenital muscular dystrophy (L-CMD) is caused by mutations in the gene, encoding lamin A/C. To further understand the molecular mechanisms of L-CMD proteomic profiling using DIA mass spectrometry was conducted on immortalized myoblasts and myotubes from controls and L-CMD donors each harbouring a different mutation (R249W, del.32 K and L380S). Compared to controls, 124 and 228 differentially
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Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-03-12 Limin Li, Manoj P. Menezes, Melanie Smith, Robin Forbes, Stephan Züchner, Amber Burgess, Ian R. Woodcock, Martin B. Delatycki, Eppie M. Yiu
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Comparison of energy expenditure of individuals with Duchenne muscular dystrophy in the sitting posture on the ground and in water Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-03-12 Caio Roberto Aparecido de Paschoal Castro, Rafael Santos Ferreira da Silva, Kaitiana Martins da Silva, Márjory Harumi Nishida, Carolina Vasquez Valenci Rios, Douglas Martins Braga
Duchenne Muscular Dystrophy (DMD) is one of the most frequent childhood dystrophies, affecting cardiopulmonary functions and walking ability. One of the main symptoms is fatigue, which is caused by altered muscle metabolism related to energy expenditure (EE). Aquatic physiotherapy is a therapeutic modality that facilitates the maintenance of this posture because of immersion on the body. This cross-sectional
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271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-03-11 M. Pennuto, P.F. Pradat, G. Sorarù, L. Greensmith, KD Consortium, Manuela Basso, Marco Bertolotti, Mamede de Carvalho, Gianni Fabris, Silvia Fenu, Pietro Fratta, Kenneth Fischbeck, Linda Greensmith, Illana Gozes, Masahisa Katsuno, Bilal Malik, Alexandra MacLean, Ed Meyertholen, Maria Pennuto, Nadia Pilati, Pierre Francois Pradat, Angelo Poletti, Giorgia Querin, Carlo Rinaldi, Giuseppe Ronzitti, Xavier
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Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-03-08 Katlyn McGrattan, Antonella Cerchiari, Eleanor Conway, Beatrice Berti, Richard Finkel, Francesco Muntoni, Eugenio Mercuri, on behalf of the iSMAc working group, Lavinia Fanelli, Giorgia Coratti, Valeria Sansone, Emilio Albamonte, Federica Trucco, Sofia Latini, Enrico Bertini, Adele d'Amico, Luca Doglio, Georgia Stimpson, Giovanni Baranello, Mariacristina Scoto, Annemarie Rohwer, Lisa Edel, Robert Muni
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272nd ENMC international workshop: 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16–18 June 2023, Hoofddorp, The Netherlands Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-03-07 James B. Lilleker, Elie Naddaf, Christiaan G.J. Saris, Jens Schmidt, Marianne de Visser, Conrad C. Weihl, the 272nd ENMC workshop participants, Helene Alexandersson, Lindsay Alfano, Yves Allenbach, Umesh Badrising, Olivier Benveniste, Salman Bhai, Jan De Bleecker, Marie Christine Breeveld, Hector Chinoy, Louise Diederichsen, Mazen Dimachkie, Steven Greenberg, Mridul Johari, James Lilleker, Ulrika Lindgren
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No significant sex differences in incidence or phenotype for the SMNΔ7 mouse model of spinal muscular atrophy Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-03-05 Nicholas C. Cottam, Melissa A. Harrington, Pamela M. Schork, Jianli Sun
Spinal muscular atrophy (SMA) is an autosomal recessive disease that affects 1 out of every 6,000-10,000 individuals at birth, making it the leading genetic cause of infant mortality. In recent years, reports of sex differences in SMA patients have become noticeable. The SMNΔ7 mouse model is commonly used to investigate pathologies and treatments in SMA. However, studies on sex as a contributing biological
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We don't have to be dowdy just because we are disabled: Summarising the problems encountered by people with limited mobility in finding and buying practical and stylish clothes Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-02-29 Sheila Hawkins
This paper explores how people with limited mobility choose and buy clothes, and how this could be improved, both for them and for retailers. It reports on an online survey carried out May-September 2023, asking people with limited mobility about their experiences, shows the practical difficulties they encounter and makes recommendations for retailers to improve their offer and reach to this group
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Does inspiratory muscle training improve lung function and quality of life in people with inclusion body myositis? A pilot study Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-02-22 Ethan Williams, Ian Cooper, Kelly Beer, Kathryn Hird, Vinicius Cavalheri, Kathryn Watson, Merrilee Needham
Inclusion body myositis is the most common acquired myositis in adults, predominantly weakening forearm flexor and knee extensor muscles. Subclinical respiratory muscle weakness has recently been recognised in people with inclusion body myositis, increasing their risk of respiratory complications. Inspiratory muscle training, a technique which demonstrates efficacy and safety in improving respiratory
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Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-02-08 Alessia Perna, Luca Bosco, Fabiana Fattori, Eleonora Torchia, Anna Modoni, Manuela Papacci, Antonio Petrucci, Giorgio Tasca, Enzo Ricci, Enrico Silvio Bertini, Gabriella Silvestri
This report describes a novel TTN -related phenotype in two brothers, both affected by a childhood onset, very slowly progressive myopathy with cores, associated with dilated cardiomyopathy only in their late disease stages. Clinical exome sequencing documented in both siblings the heterozygous c.2089A>T and c.19426+2T>A variants in . The c.2089A>T, classified in ClinVar as possibly pathogenic, introduces
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“Amyopathic” MDA5-positive dermatomyositis with severe lung involvement presenting with net myositic morphological features - insights from an autopsy study Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-02-04 Benjamin Englert, Carsten Dittmayer, Hans-Hilmar Goebel, Udo Schneider, Marie-Therese Holzer, Akinori Uruha, Werner Stenzel
Anti-MDA5-positive dermatomyositis (MDA5-DM) often presents with extramuscular, especially pulmonary and skin manifestations, and apparent clinical signs of frank myositis can be missing (so called amyopathic DM). We hereby present two male patients who died from respiratory failure during the course of MDA5-DM. While overt signs of myositis or any skin involvement were absent at admission to hospital
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Evolution of neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients in a longitudinal study Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-01-26 Francesca Cumbo, Michele Tosi, Michela Catteruccia, Daria Diodato, Francesco Nicita, Irene Mizzoni, Giacomo De Luca, Adelina Carlesi, Paolo Alfieri, Stefano Vicari, Enrico Silvio Bertini, Adele D'Amico
It has long been reported that neuropsychological deficits may be present in dystrophinopathies, specifically non-progressive cognitive impairment and a global deficit in executive functions; this neurocognitive profile has been less explored in patients with Becker than Duchenne Muscular Dystrophy (BMD/DMD). We conducted a longitudinal study to explore the evolution of neuropsychological and behavioural
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My trial and training journey in X-linked myotubular myopathy: mountains and valleys Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-01-26 J. van Tienen, C. van Geenen, N.B. Voet, L. Servais, N.C. Voermans
Abstract not available
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Role of recovery of acetylcholine release in compromised neuromuscular function Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-01-24 Jeppe Blichfeldt Winther, Jeanette Jeppesen Morgen, Martin Skov, Martin Gruwier Broch-Lips, Ole Bækgaard Nielsen, Kristian Overgaard, Thomas Holm Pedersen
Everyday physical activities, such as walking, are enabled by repeated skeletal muscle contractions and require a well-functioning neuromuscular transmission. In myasthenic disorders, activities of daily living are debilitated by a compromised neuromuscular transmission leading to muscle weakness and fatiguability in patients. To enable physical activity, acetylcholine (ACh) is released repeatedly
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Effect of nusinersen treatment on quality of life and motor function in adult patients with spinal muscular atrophy Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-01-19 Nazan Şimşek Erdem, Gökçe Yağmur Güneş Gencer, Abir Alaamel, Hilmi Uysal
The aim of this study was to assess the effect of 4 loading doses of nusinersen on motor function and quality of life (QoL) in adult patients with spinal muscular atrophy (SMA). Twenty-one adult patients with genetically confirmed SMA who were treated with 4 loading doses of nusinersen were included in this study. All patients were evaluated with the Medical Research Council (MRC) scale, the Hammersmith
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An up-to-date myopathologic characterisation of facioscapulohumeral muscular dystrophy type 1 muscle biopsies shows sarcolemmal complement membrane attack complex deposits and increased skeletal muscle regeneration Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-01-14 Lisanne Hubregtse, Karlijn Bouman, Chéryane Lama, Saskia Lassche, Nicolas de Graaf, Valentina Taglietti, Benno Küsters, Baptiste Periou, Frédéric Relaix, Baziel van Engelen, François-Jerôme Authier, Nicol C. Voermans, Edoardo Malfatti
The aim of this study was to identify key routinely used myopathologic biomarkers of FSHD1. Needle muscle biopsies were taken in 34 affected muscles (m. quadriceps femoris (QF), n = 20, m. tibialis anterior (TA), n = 13, m. biceps brachii, n = 1) from 22 patients (age, 53.5 (10) years; M = 12, F = 10). Eleven patients had more than one biopsy (2xQF, n = 1; QF+TA, n = 9; 2xQF+TA, n = 1). Histochemistry
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Gene therapy delivered micro-dystrophins co-localize with transgenic utrophin in dystrophic skeletal muscle fibers Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-01-12 Swathy Krishna, Arden B. Piepho, Dana M. Lake, Laurel R. Cumby, Kaelyn K. Lortz, Jeovanna Lowe, Jeffrey S. Chamberlain, Jill A. Rafael-Fortney
Duchenne muscular dystrophy (DMD) is a devastating muscle disease caused by the absence of functional dystrophin. There are multiple ongoing clinical trials for DMD that are testing gene therapy treatments consisting of adeno-associated viral (AAV) vectors carrying miniaturized versions of dystrophin optimized for function, termed micro-dystrophins (μDys). Utrophin, the fetal homolog of dystrophin
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Contracturing granulomatous myositis in a patient with rheumatoid arthritis: a case report Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-01-10 Willem De Ridder, Laurens Van Herck, Gert Cypers, Isabelle Ravelingien, Jonathan Baets
Contracturing granulomatous myositis is a rare myopathy in which patients present with flexion contractures of the upper limbs in addition to slowly progressive muscle weakness and pain. Whether it represents a distinct nosological entity remains a point of discussion. We present a patient with isolated granulomatous disease of the muscle that responded very well to intravenous immunoglobulins after
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Emergencies in Neuromuscular Disorders | Editors: Maxwell Damian, Marianne de Visser Copyright: Springer Nature Switzerland AG 2022 Hardcover ISBN978-3-030-91931-3, Published: 29 September 2022 Softcover ISBN978-3-030-91934-4, Published: 02 October 2023 eBook ISBN978-3-030-91932-0. Published: 28 September 2022 Edition Number 1 Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-01-10 Rosaline Quinlivan
Abstract not available
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Neuropathic pain | Edited by Nadine Attal and Didier Bouhassira Oxford University Press (2023). 288 pages $59.95. ISBN: 9780197616345 e-text: ISBN 9780197616352 Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-01-10 Elena Enax-Krumova
Abstract not available
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European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17–19, 2023, Barcelona, Spain Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-01-09 Hubert Smeets, Bram Verbrugge, Xavier Bulbena, Liliya Hristova, Julia Vogt, Isabelle van Beckhoven
The European Joint Programme on Rare Diseases (EJPRD) funded the workshop "LAMA2-Muscular Dystrophy: Paving the road to therapy", bringing together 40 health-care professionals, researchers, patient-advocacy groups, Early-Career Scientists and other stakeholders from 14 countries. Progress in natural history, pathophysiology, trial readiness, and treatment strategies was discussed together with efforts
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Crossover randomized controlled trial of bumetanide to rescue an attack of exercise induced hand weakness in hypokalaemic periodic paralysis Neuromuscul. Disord. (IF 2.8) Pub Date : 2024-01-03 Renata Siciliani Scalco, Jasper M Morrow, Andreea Manole, Iwona Skorupinska, Federico Ricciardi, Emma Matthews, Michael G Hanna, Doreen Fialho
The aim of this study was to establish whether bumetanide can abort an acute attack of weakness in patients with HypoPP. This was a randomised, double-blind, cross-over, placebo-controlled phase II clinical trial. Focal attack of weakness was induced by isometric exercise of ADM followed by rest (McManis protocol). Participants had two study visits and received either placebo or 2 mg bumetanide at
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The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-23 Lizan Stinissen, Sietse Bouma, Johann Böhm, Jeno van Tienen, Holger Fischer, Zak Hughes, Anne Lennox, Erin Ward, Marie Wood, A. Reghan Foley, Wija Oortwijn, Heinz Jungbluth, Nicol C. Voermans
The design of a clinical trial for a rare disease can be challenging. An optimal study design is required to effectively study the clinical outcomes for possible therapies for these types of disorders. Understanding the study participants’ experiences as well as barriers and facilitators of participation are important to optimize future research and to inform clinical trial management. Centronuclear
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Commentary from the Editor Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-22 Anders Oldfors
Abstract not available
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Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-21 Hamed Shahriyari, Mahtab Ramezani, Yalda Nilipour, Ali Asghar Okhovat, Ariana Kariminejad, Leila Aghaghazvini, Farzad Fatehi, Shahriar Nafissi
The rare disorder known as Neutral Lipid Storage Disease with Myopathy presents with a variety of clinical manifestations, including myopathy, cardiac dysfunction, and other organ complications. Early diagnosis is crucial due to the increased risk of cardiomyopathy. We describe the clinical, histopathological, muscle imaging, and genetic findings of nine neutral lipid storage myopathy patients. Proximal
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Impact of gastrointestinal and urological symptoms in children with myotonic dystrophy type 1 Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-21 Sandra J.M. Maagdenberg, Sylvia Klinkenberg, J. Sophie van den Berg, Sandra Altena-Rensen, Desiree Vrijens, Etienne J.M. Janssen, Nicole Gierenz, Liesbeth L. de Wall, Hilde M.H. Braakman
Gastrointestinal and urological symptoms are frequently reported by people with myotonic dystrophy type 1 (DM1) but have remained understudied. In a cross-sectional study, frequency, nature, treatment and impact of gastrointestinal and urological symptoms in children with DM1 aged 5–18 years were assessed. We included 58 children (30 males, 28 females) with a mean age of 13 years; 74.1 % reported at
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A new pseudoexon activation due to ultrarare branch point formation in Duchenne muscular dystrophy Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-20 Zhiying Xie, Chengyue Sun, Chang Liu, Yanyu Lu, Bin Chen, Rui Wu, Yanru Liu, Ran Liu, Qing Peng, Jianwen Deng, Lingchao Meng, Zhaoxia Wang, Wei Zhang, Yun Yuan
Deep-intronic variants that create or enhance a splice site are increasingly reported as a significant cause of monogenic diseases. However, deep-intronic variants that activate pseudoexons by affecting a branch point are extremely rare in monogenic diseases. Here, we describe a novel deep-intronic DMD variant that created a branch point in a Duchenne muscular dystrophy (DMD) patient. A 7.0-year-old
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“MUSCLE BIOPSY” - Its 50th anniversary to this year Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-16 Hans H. Goebel, Werner Stenzel
Abstract not available
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Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-15 Carina Wallgren-Pettersson, Manu Jokela, Vilma-Lotta Lehtokari, Henna Tyynismaa, Markus T Sainio, Emil Ylikallio, Olli Tynninen, Katarina Pelin, Mari Auranen
Patients with myopathies caused by pathogenic variants in tropomyosin genes TPM2 and TPM3 usually have muscle hypotonia and weakness, their muscle biopsies often showing fibre size disproportion and nemaline bodies. Here, we describe a series of patients with hypercontractile molecular phenotypes, high muscle tone, and mostly non-specific myopathic biopsy findings without nemaline bodies. Three of
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The 2024 version of the gene table of neuromuscular disorders (nuclear genome) Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-14 Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun
Abstract not available
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270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10–12 March, 2023, Hoofddorp, the Netherlands Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-14 Emanuela Abiusi, Mar Costa-Roger, Enrico Silvio Bertini, Francesco Danilo Tiziano, Eduardo F. Tizzano, SMN2 Study group, Dr Emanuela Abiusi, Dr Giovanni Baranello, Prof. Enrico Bertini, Dr François Boemer, Prof. Arthur Burghes, Dr Marta Codina-Solà, Dr Mar Costa-Roger, Dr Tamara Dangouloff, Dr Ewout Groen, Dr Monika Gos, Dr Maria Jędrzejowska, Prof. Janbernd Kirschner, Dr Henny H Lemmink, Prof. Wolfgang
The 270th ENMC workshop aimed to develop a common procedure to optimize the reliability of SMN2 gene copy number determination and to reinforce collaborative networks between molecular scientists and clinicians. The workshop involved neuromuscular and clinical experts and representatives of patient advocacy groups and industry. SMN2 copy number is currently one of the main determinants for therapeutic
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Neurodiversity, treatment compliance and survival in adults with Duchenne muscular dystrophy: A single-centre retrospective cohort review Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-13 Luca Nart, Mahalekshmi Desikan, Aleksandra Pietrusz, Konstantinos Savvatis, Ros Quinlivan
Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy worldwide. With increasing survival, there is now a greater awareness of associated neurodevelopmental co-morbidities. Despite this, there is currently a limited understanding of how these co-morbidities might potentially impact on health outcomes. This study reviewed the characteristics of 37 adults with DMD who died between 2011
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ENMC Themed Call 2023-2024 Announcement Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-11
Abstract not available
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WMS 2024 Congress information Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-11
Abstract not available
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Adolescent-onset multisystem proteinopathy due to a novel VCP variant Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-10 Pannathat Soontrapa, Nathan A. Seven, Teerin Liewluck, Gaofeng Cui, Georges Mer, Margherita Milone
Valosin-containing protein () pathogenic variants are the most common cause of multisystem proteinopathy presenting with inclusion body myopathy, amyotrophic lateral sclerosis/frontotemporal dementia, and Paget disease of bone in isolation or in combination. We report a patient manifesting with adolescent-onset myopathy caused by a novel heterozygous variant (c.467G > , p.Gly156Val). The myopathy manifested
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Understanding anxiety experienced by young males with Duchenne muscular dystrophy: a qualitative focus group study Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-09 Rachel E. Trimmer, William P.L. Mandy, Francesco Muntoni, Kate E. Maresh
In this multi-methods study we explored the characteristics, causes and impact of anxiety in Duchenne muscular dystrophy (DMD) from the perspective of young males with DMD and their parents. Eight young males with DMD (7–18 years) and 14 parents participated in separate focus groups. Perspectives on anxiety were explored using semi-structured interview schedules. Themes were identified using Framework
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Remote respiratory resistance exercise training improves respiratory function in individuals with VCP multisystem proteinopathy Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-07 Madeline Halseth, Ryan Mahoney, Joyce Hsiou, Harrison N. Jones, Virginia Kimonis
Valosin-containing protein (VCP) disease is an autosomal dominant multisystem proteinopathy associated with hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Myopathy frequently results in respiratory muscle weakness, leading to early mortality due to respiratory failure. We investigated the effects of a remotely administered inspiratory muscle training program
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Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9 Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-06 Ros Quinlivan, Elaine Murphy, Shpresa Pula, Alexandra Pain, Henrietta Brain, Grace Scopes, Frenki Gjika, Naim Ahmadouk, Andreea Manole, Henry Houlden
Acute rhabdomyolysis (AR) leading to acute kidney injury has many underlying etiologies, however, when the primary trigger is exercise, the most usual underlying cause is either a genetic muscle disorder or unaccustomed intense exercise in a healthy individual. Three adult men presented with a history of exercise intolerance and episodes of acute renal impairment following intense exercise, thought
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Corrigendum to “NMNAT1 and hereditary spastic paraplegia (HSP): Expanding the phenotypic spectrum of NMNAT1 variants” [Neuromuscular Disorders, 33(2023) 295-301] Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-02 Zahra Sadr, Aida Ghasemi, Mohammad Rohani, Afagh Alavi
Abstract not available
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Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-03 Giorgia Coratti, Marika Pane, Claudia Brogna, Adele D'Amico, Elena Pegoraro, Luca Bello, Valeria A. Sansone, Emilio Albamonte, Elisabetta Ferraroli, Elena Stacy Mazzone, Lavinia Fanelli, Sonia Messina, Maria Sframeli, Michela Catteruccia, Gianpaolo Cicala, Anna Capasso, Martina Ricci, Silvia Frosini, Giacomo De Luca, Enrica Rolle, Roberto De Sanctis, Nicola Forcina, Giulia Norcia, Luigia Passamano
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Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-02 Megan A Waldrop, Shannon Chagat, Michael Storey, Alayne Meyer, Megan Iammarino, Natalie Reash, Lindsay Alfano, Linda Lowes, Garey Noritz, Andre Prochoroff, Ian Rossman, Matthew Ginsberg, Kathryn Mosher, Eileen Broomall, Nancy Bass, Courtney Gushue, Kavitha Kotha, Grace Paul, Richard Shell, Chang-Yong Tsao, Jerry R. Mendell, Anne M. Connolly
5q spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease caused by absence of the gene with three FDA approved genetic therapies which significantly improve outcomes. The AAV9 mediated gene replacement therapy, onasemnogene abeparvovec, has the greatest potential for side effects. Here we report the safety and outcomes from 46 children treated with onasemnogene abeparvovec
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Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium Neuromuscul. Disord. (IF 2.8) Pub Date : 2023-12-02 Tamara Dangouloff, Praveen Thokala, Matthew D Stevenson, Nicolas Deconinck, Adèle D'Amico, Aurore Daron, Stephanie Delstanche, Laurent Servais, Mickael Hiligsmann
The objective of the study was to assess the cost-effectiveness of real-world spinal muscular atrophy newborn screening followed by treatment. We modeled the lifetime cost-effectiveness of the spinal muscular atrophy newborn screening followed by treatment (screening) compared to treatment without screening (no screening) from the Belgian healthcare perspective. Real-world data, including quality of