Journal of neuromuscular diseases最新文献

{"title":"Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy.","authors":"Laura Llansó, David Reyes-Leiva, Alba Segarra-Casas, Tomàs Xuclà-Ferrarons, Eduard Gallardo, Rosa Blanco, Pia Gallano, Montse Olivé, Lidia González-Quereda","doi":"10.1177/22143602251350849","DOIUrl":"https://doi.org/10.1177/22143602251350849","url":null,"abstract":"<p><p>Classic phenotypes of plectinopathies include epidermolysis bullosa simplex and muscular dystrophy with proximal distribution, associated or not with skin blistering. However, in recent years, patients manifesting new muscular phenotypes including lower-limb distal weakness have been described. We aim to expand the phenotypic spectrum of plectinopathies by reporting a case presenting with a pure skeletal myopathy with predominant upper-limb distal weakness. We describe this distal myopathy phenotype providing comprehensive clinical, genetic, myopathological and radiological data. Genetic studies identified two truncating variants in <i>PLEC.</i></p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251350849"},"PeriodicalIF":3.2,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144317133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Some functional improvements in placebo and Delandistrogene moxeparvovec-treated trial participants explained by increased corticosteroid dosing.","authors":"Eric P Hoffman, Paula R Clemens, Laura Hagerty, Utkarsh J Dang","doi":"10.1177/22143602251346660","DOIUrl":"https://doi.org/10.1177/22143602251346660","url":null,"abstract":"","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251346660"},"PeriodicalIF":3.2,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.","authors":"Justyne E Ross, May Flowers, Shannon McNulty, Mayher Patel, Hui Yang, Brooke Palus, Marwa Abdelmoneim Elnagheeb, Lucy Eng, Emma Owens, Alan H Beggs, Enrico Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie A Genetti, Hernan Gonorazky, Monkol Lek, Amanda Lindy, Livija Medne, Francesco Muntoni, Sander Pajusalu, Katarina Pelin, John Rendu, Anna Sarkozy, Matteo Vatta, Tom Winder, Grace Yoon, Carsten G Bönnemann, Ozge Ceyhan-Birsoy","doi":"10.1177/22143602251339369","DOIUrl":"https://doi.org/10.1177/22143602251339369","url":null,"abstract":"<p><strong>Background: </strong>Congenital myopathies are a group of neuromuscular disorders that typically present at birth or early childhood with hypotonia and non-progressive or slowly progressive muscle weakness. They are classically subclassified by characteristic structural changes and histopathological findings in skeletal muscle. Variants in over 40 genes have been described to date in patients with various forms of congenital myopathy with overlapping phenotypic and histological features, which poses a challenge for laboratories and clinicians in interpreting genetic findings.</p><p><strong>Objective: </strong>The purpose of this study was to evaluate the evidence supporting each gene-disease relationship and provide an expert-reviewed classification for the clinical validity of genes involved in congenital myopathies.</p><p><strong>Methods: </strong>The ClinGen Neurological Disorders Clinical Domain Working Group assembled the Congenital Myopathies Gene Curation Expert Panel (CongenMyopathy-GCEP), a group of clinicians and geneticists with expertise in congenital myopathies tasked to perform evidence-based curation of 50 gene-disease relationships using the ClinGen semiquantitative framework to assign clinical validity.</p><p><strong>Results: </strong>Our curation effort resulted in 35 (70%) Definitive, eight (16%) Moderate, six (12%) Limited, and one (2%) Disputed disease relationship classifications. The summary of each curation is made publicly available on the ClinGen website.</p><p><strong>Conclusions: </strong>Expert-reviewed assignment of gene-disease relationships by the CongenMyopathy-GCEP facilitates accurate molecular diagnoses for congenital myopathies and can allow genetic testing to focus on genes with a validated role in disease.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251339369"},"PeriodicalIF":3.2,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144258284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Initiating non-invasive ventilation in patients with Amyotrophic Lateral Sclerosis in The Netherlands: A centralised approach to respiratory care.","authors":"Rineke Jh Jaspers Focks, Jochem Helleman, Leonard H van den Berg, Johanna Ma Visser-Meily, Michael A Gaytant, Peter J Wijkstra, Anita Beelen","doi":"10.1177/22143602251319167","DOIUrl":"10.1177/22143602251319167","url":null,"abstract":"<p><strong>Background: </strong>In the Netherlands a centralised approach to respiratory care for patients with Amyotrophic Lateral Sclerosis is used based on national guidelines. Patients with Amyotrophic Lateral Sclerosis are referred to one of 4 centres for Home Mechanical Ventilation.</p><p><strong>Objective: </strong>Our aim was to evaluate the respiratory care according to the Dutch guideline by evaluation of reasons for starting non-invasive ventilation, timing of initiating and survival in patients with Amyotrophic Lateral Sclerosis using non-invasive ventilation.</p><p><strong>Method: </strong>A retrospective chart-review was performed of 323 patients, who had been referred to centres for Home Mechanical Ventilation in 2016-2018. Data collected included symptoms of hypoventilation, forced vital capacity, blood gasses, criteria for (not) initiating non-invasive ventilation, and survival. Kaplan-Meyer curves and Multivariate Cox proportional hazard regression were used in the analysis.</p><p><strong>Results: </strong>The main criteria used for initiating non-invasive ventilation were hypercapnia (77%) and the presence of orthopnea and/or dyspnoea (25%). Median survival after starting non-invasive ventilation was 11 months, and was shorter for patients with bulbar disease onset and older age. The proportion of the total disease duration that was spent on non-invasive ventilation was not significantly affected by age, sex or site of disease. Seventy nine percent of the patients who didn't start non-invasive ventilation had reached a joint decision with their caregivers and/or physicians.</p><p><strong>Conclusion: </strong>Key outcomes of the Dutch centralised respiratory care approach have shown that most patients were initiated on non-invasive ventilation due to presence of hypercapnia and/or dyspnoea/orthopnea, which is according to the Dutch guidelines. Half of patients spent at least 33% of their disease duration on non-invasive ventilation. To help find the optimal criteria and timing for non-invasive ventilation it would be useful for other countries to share their key outcomes as well.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"372-381"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints.","authors":"Hiroyuki Ishiura","doi":"10.1177/22143602251319164","DOIUrl":"10.1177/22143602251319164","url":null,"abstract":"<p><p>Oculopharyngodistal myopathy (OPDM) is a rare muscular disorder characterized by ocular symptoms, pharyngeal symptoms, facial weakness, and distal predominant limb muscle weakness. The cause of the disease was unknown for a long time. Recently, however, it has been reported that expansions of CGG or CCG repeats in <i>LRP12</i>, <i>LOC642361</i>/<i>NUTM2B-AS1</i>, <i>GIPC1</i>, <i>NOTCH2NLC</i>, <i>RILPL1</i>, and <i>ABCD3</i> are the causes of the disease. Cases sometimes present with neurological symptoms, and the clinical spectrum of diseases caused by expansions of CGG or CCG repeats has been proposed to be called FNOP-spectrum disorder after the names of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, oculopharyngeal myopathy with leukoencephalopathy, and OPDM. In this article, the recent progress in the field of OPDM is reviewed, and remaining issues in OPDM are discussed.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"303-311"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143541528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping.","authors":"Made Harumi Padmaswari, Shilpi Agrawal, Christopher E Nelson","doi":"10.1177/22143602251326993","DOIUrl":"10.1177/22143602251326993","url":null,"abstract":"<p><p>Duchenne muscular dystrophy (DMD) is caused by loss-of-function mutations to the gene encoding dystrophin. Restoring the reading frame of dystrophin by removing internal out-of-frame exons may address symptoms of DMD. Therefore, the principle of exon skipping has been at the center stage in drug development for Duchenne muscular dystrophy (DMD) over the past two decades. Antisense oligonucleotides (AONs) have proven effective in modulating splicing sites for exon skipping, resulting in the FDA approval of several drugs using this technique in recent years. However, due to the temporary nature of AON, researchers are actively exploring genome editing as a potential long-term, single-administration treatment. The advancements in genome-editing technology over the last decade have boosted this transition. While no clinical trials for exon skipping in DMD via genome editing have been conducted as of this writing, preclinical studies show encouraging results. This review describes the preclinical landscape of genome editing for exon skipping in DMD treatment. Along with highlighting the adaptability of genome editing in exon skipping, this review also describes delivery challenges and outlines future research directions that could set a new stage for enhanced therapeutic development in DMD.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"424-434"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophy.","authors":"Anna G Mayhew, James Signorovitch, Michaela Johnson, Molly Frean, Susan J Ward, Nate Posner, Valeria Merla, Matthias Mahn, Georgia Stimpson, Michela Guglieri, Volker Straub, Robert Muni-Lofra, Adnan Manzur, Giovanni Baranello, Francesco Muntoni","doi":"10.1177/22143602241313116","DOIUrl":"10.1177/22143602241313116","url":null,"abstract":"<p><p>In Duchenne muscular dystrophy (DMD), age at symptom onset and rate of decline thereafter vary considerably. This study contrasted disease progression over time using the North Star Ambulatory Assessment (NSAA) in an overall sample of patients with DMD (mean age 7.1 years; baseline total NSAA score 22.2) with that of a centrally representative subgroup (mean age 6.9 years; NSAA score 24.0) defined according to median age at loss of ambulation. The average disease trajectory in the overall sample understated the more rapid rates of decline experienced by patients in the centrally representative subgroup.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"435-440"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648228","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Physical training of wheelchair users with neuromuscular disorders: A systematic review.","authors":"Nanna Scharff Poulsen, Lærke Rykær Kraglund, John Vissing","doi":"10.1177/22143602241313114","DOIUrl":"10.1177/22143602241313114","url":null,"abstract":"<p><strong>Objective: </strong>Wheelchair users with neuromuscular disorders have symptoms related to the disease and complications to the sedentary lifestyle, such as constipation and lower back pain. Physical training might be beneficial. This systematic review investigates the potential benefits and harms of physical training for wheelchair users with neuromuscular disorders.</p><p><strong>Methods: </strong>We systematically searched PubMed including studies published until July 2024.</p><p><strong>Inclusion criteria: </strong>1) participants with a neuromuscular disorder, 2) at least 60% of participants in a study were wheelchair users, 3) physical training and its effects were investigated, 4) studies were prospective, and 5) English language was used. Non-peer-reviewed articles were excluded. Search results were screened by title, abstract, and full text. Two independent authors assessed the quality with the Downs and Black Quality Index.</p><p><strong>Results: </strong>We included 14 studies of 140 patients from 5 types of neuromuscular disorders (Duchenne muscular atrophy, spinal muscular atrophy, limb-girdle muscular atrophy, facioscapulohumeral muscular dystrophy, and amyotrophic lateral sclerosis). The mean quality was low (16/32) due to flaws in study design, selection bias, and power. Even though many were of low quality and lacked descriptions of adverse events, they all showed positive effects. Most studies investigated physical training of mastication or respiration with improvements in both. Other findings were improvements in endurance, extremity strength, and range of motion.</p><p><strong>Conclusions: </strong>Physical training of wheelchair users with neuromuscular disorders is not well investigated. Physical training seems safe and beneficial, but training of respiratory and masticatory muscles is the only well-documented exercise modality that can be advised in patients with Duchenne Muscular Dystrophy or Duchenne Muscular Dystrophy/Spinal Muscular Atrophy, respectively. Larger, high-quality trials, including other neuromuscular disorders, are needed to assess the effects and adverse events of physical training.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"330-341"},"PeriodicalIF":3.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors affecting desired participation in transition to an adult life with Duchenne muscular dystrophy (DMD).","authors":"Laura Jb Merkenhof, Yvonne Veenhuizen, Elizabeth Vroom, Greet Sterenberg, Wendy Chm Hesseling, Jan T Groothuis, Edith H Cup, Saskia Ls Houwen-van Opstal","doi":"10.1177/22143602251324847","DOIUrl":"10.1177/22143602251324847","url":null,"abstract":"<p><p>BackgroundFor people with Duchenne muscular dystrophy (DMD), the transition into their desired adulthood can be challenging.ObjectivesThis study aims to; (1) exploring the desired participation for (young) adults with Duchenne muscular dystrophy (DMD); (2) exploration of the view and role of parents in this process; and (3) capturing the gap and the influencing factors between the current and desired situation.MethodsA cross-sectional digital survey was conducted, based on literature, expert opinion, and interviews with young adults with DMD and their parents. Descriptive and non-parametric statistics were used.Results43 adults* with DMD an 30 parents completed the survey. All adults with DMD wanted to have an independent life. They were satisfied with their leisure activities. Gaps between the desired and current situation were identified concerning facilities and aids, social activities, and employment. Important factors of influence on these topics were accessibility, outdoor mobility, adequate care facilities, self-confidence, adequate knowledge of professionals and caregivers, and support of parents. The 30 participating parents saw limited opportunities in accessing facilities and aids, job opportunities, and their son having an intimate relationship.ConclusionsAdults with DMD desire a meaningful and independent life. The challenges they, and their parents face are mainly on social participation. More focus and collaboration is needed between health care services, social services and occupation environments to empower people with DMD living their desired adult life.*Adults; In this article, we use the term adults. By this we include boys aged 16 and 17.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"353-363"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A state-of-the-art review of registries in spinal muscular atrophy: A valuable resource for clinical research.","authors":"Lakshmi Balaji, Michelle A Farrar, Eppie M Yiu, Didu Kariyawasam","doi":"10.1177/22143602241313113","DOIUrl":"10.1177/22143602241313113","url":null,"abstract":"<p><p>Since 2016/17, three disease modifying therapies for spinal muscular atrophy (SMA) have been translated into clinical practice. This has driven the implementation of newborn screening to transform health outcomes and clinical practice. SMA registries have provided important sources of data on the evolution of novel phenotypes within the therapeutic era, treatment patterns, epidemiology, genotype-phenotype correlations, care and lived experiences of people living with SMA, to enrich knowledge and learnings of the condition in this changed landscape. In this state-of-the-art review, we consider the utility and outcomes of SMA registries and evaluate their role and importance. In 2024 there are more than 35 national registries cataloguing over 8000 individuals with SMA. Additional registries are operated by advocacy groups and pharmaceutical companies, compiling data for more than 10,000 individuals with this condition. This review highlights the essential role of registries in supporting clinical trial recruitment, defining the changing incidence and prevalence of SMA in an age of reproductive carrier and newborn screening, establishing natural history data, contributing to post market drug surveillance, assessing real world clinical and cost effectiveness and capturing patient-reported outcome measures (PROMS) and experience measures (PREMS). Whilst their utility is broad, barriers to effective data curation and management are evaluated including challenges of data curation and fragmentation, quality and sharing, alongside resource constraints and sustainability. Strategies to enhance the value of registries include the imperative to collaborate across clinical research networks and the value of interoperability, enabled by standardization of data collection and entry, sharing procedures and public and patient involvement. As new phenotypes and unmet needs emerge in the post therapeutic era, registries remain central tools in generating new insights now and into the future and are poised to respond meaningfully to the priorities of individuals living with SMA.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"312-329"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}