Journal of neuromuscular diseases最新文献

{"title":"Machine learning predicts treatment response to nusinersen in non-sitter spinal muscular atrophy (SMA).","authors":"Georgia Stimpson, Emer O'Reilly, Giorgia Coratti, Deborah Ridout, Tapabrata Chakraborti, Robin Mitra, Roberto de Sanctis, Marika Pane, Mariacristina Scoto, Eugenio Mercuri, Francesco Muntoni, Giovanni Baranello","doi":"10.1177/22143602261496327","DOIUrl":"https://doi.org/10.1177/22143602261496327","url":null,"abstract":"<p><p>BackgroundNusinersen has substantially increased survival and improved disease progression in Spinal Muscular Atrophy (SMA) patients. However, treatment response is heterogeneous, with some patients gaining the ability to sit and walk whilst others display less obvious changes.MethodFrom the SMA Reach UK and the Italian Telethon Network, 124 non-sitter SMA patients treated with nusinersen under 4 years were included and randomly allocated to training and testing (80/20%). Tree and regression-based machine learning for survival outcomes were compared, and oblique random forests were selected, with a testing C-Index of 0.74. The features were selected from items of the CHOP-INTEND and HINE-2 motor function assessments, respiratory and swallowing status using mutual information.FindingsSixty-two patients (50%) achieved sitting, at a median age of 2.4 years. The predicted median time-to-sitting in those requiring tube feeding at treatment initiation was 4-months later than those without, and this was the most influential factor. Specific motor function features, including the ability to kick in supine, were strongly associated with a higher likelihood of sitting.InterpretationThis work provides a framework for predicting nusinersen-response and represents the first stage in personalised counselling on treatment plans for SMA.FundingSupport for SMA Reach is provided by Biogen, Roche and Novartis, and historically the NIHR BRC, SMA Trust, the MRC Translational Research Centre and MD UK. Support for the Italian network is provided by Famiglie SMA, Telethon (GSP 13002), and ASAMSI.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261496327"},"PeriodicalIF":3.5,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149228032","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":"Neurofilaments in cerebrospinal fluid and/or serum as a possible biomarker of pediatric spinal muscular atrophy.","authors":"Markéta Kumhera, Eva Vrsčaj, Tanja Loboda, Damjan Osredkar, Petra Holotová, Marie Rohlenová, Barbora Lauerová, Vanesa Jurášová, Jitka Hanzalová, Markéta Pavlíková, Jana Haberlová","doi":"10.1177/22143602261488135","DOIUrl":"10.1177/22143602261488135","url":null,"abstract":"<p><p>BackgroundSpinal muscular atrophy (SMA) is a severe, genetically determined neuromuscular disorder characterised by progressive muscle weakness resulting from motor neuron degeneration. Although therapies such as nusinersen have altered disease trajectories, objective biomarkers for treatment monitoring remain lacking. Neurofilament proteins, particularly phosphorylated neurofilament heavy chain (pNFH), are promising candidates for this role.ObjectivesTo evaluate pNFH levels in cerebrospinal fluid (CSF) and serum as potential biomarkers for monitoring treatment response to nusinersen in paediatric patients with SMA.MethodsThis two-center observational study involved 56 SMA patients (types I-III) treated with nusinersen and 30 age-matched controls. pNFH concentrations in CSF and serum were measured at predefined intervals using ELISA kits. Motor function was assessed with CHOP INTEND, HFMSE, or MFM scales at baseline and after 3, 6, and 12 months. Mixed linear regression modeling evaluated changes in neurofilament levels and motor function.ResultsBaseline pNFH levels in both CSF and serum were significantly higher in SMA patients compared to controls. Following nusinersen therapy, pNFH levels decreased significantly in both compartments, especially in the first 6 months. Younger patients had higher initial serum pNFH levels. A significant correlation was found between CSF and serum pNFH concentration. An association between pNFH levels and motor scores was observed.ConclusionspNFH levels in CSF and serum show potential as objective biomarkers for monitoring the initial treatment response in paediatric SMA. Longitudinal changes are more informative than single measurements. Further validation in larger cohorts and using more sensitive methods is warranted.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261488135"},"PeriodicalIF":3.5,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13676684/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149216360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The cognitive-behavioral missing link in myotonic dystrophy type 1: Rethinking social cognition assessment.","authors":"Emanuele Maria Costantini, Silvi Cadri, Alice Ciattaglia, Michela Coccia, Valeria A Sansone","doi":"10.1177/22143602261494687","DOIUrl":"10.1177/22143602261494687","url":null,"abstract":"<p><p>BackgroundMyotonic dystrophy type 1 (DM1) is associated with central nervous system involvement and cognitive-behavioral alterations, including deficits in social cognition. However, standard neuropsychological assessments based on accuracy may underestimate clinically relevant dysfunction.ObjectivesTo determine whether task completion times provide a more sensitive index of social-cognitive performance than accuracy-based metrics in DM1.MethodsThirty-three individuals with genetically confirmed DM1 and 40 healthy controls completed the Reading the Mind in the Eyes Test (RMET) and the Story-Based Empathy Test (SET). Both accuracy and task completion times were analyzed. Executive functions and processing speed were evaluated using standard neuropsychological measures. Group comparisons and regression analyses were performed adjusting for age, education, and executive performance.ResultsDM1 patients showed different patterns for accuracy and completion time across social-cognitive tasks. RMET accuracy was reduced, whereas SET accuracy was comparable between groups. In contrast, completion times were consistently prolonged across all social-cognition tasks in DM1. These differences remained significant after controlling for executive function. SET completion time showed stronger discriminative performance than SET accuracy measures, whereas RMET completion time and accuracy showed comparable discriminative performance.ConclusionsSocial cognition in DM1 is characterized by prolonged completion times, while accuracy is relatively preserved on several measures. This discrepancy suggests that conventional accuracy-based assessments may not fully capture subtle differences in social-cognitive performance. Temporal metrics may reveal aspects of social cognition performance not detected by accuracy-based assessments alone and contribute to a more comprehensive neuropsychological evaluation.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261494687"},"PeriodicalIF":3.5,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13672712/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149194644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Managing growth and puberty concerns in individuals with Duchenne muscular dystrophy: Updated guidance and future directions.","authors":"Meilan M Rutter, Janet L Crane, Funmbi Babalola, Robert W Benjamin, Carol Lam, Laura McAdam, Stefan Nicolau, Anne Marie Sbrocchi, Mena Scavina, Julia Sorbara, Alexandra Ahmet, Susan Apkon, Chiara Arpaia, Tommaso Aversa, Shipra Bansal, Luca Bello, Diana X Bharucha-Goebel, Sabrina Corbetta, Natascia Di Iorgi, Ryan Farrell, Alberto Ferlin, Danilo Fintini, Melissa Fiscaletti, Rana Halloun, Maria-Elena Lautatzis, Hugh J McMillan, Nadia Merchant, Patrick Moeschen, Nat Nasomyont, Maria Fernanda Ochoa Molina, Chiara Panicucci, Nora E Renthal, Luisa De Sanctis, Jaclyn Tamaroff, Cuixia Tian, Aravindhan Veerapandiyan, Leanne M Ward, David R Weber, Sze Choong Wong, Ilaria Zito, Claire L Wood","doi":"10.1177/22143602261486896","DOIUrl":"https://doi.org/10.1177/22143602261486896","url":null,"abstract":"<p><p>Long-term glucocorticoid therapy is standard of care for individuals with Duchenne muscular dystrophy (DMD) but often results in impaired growth and delayed or incomplete puberty, impacting their physical and psychosocial health. Although DMD endocrine care has evolved, leading to inclusion in the 2018 Care Considerations, these issues remain prevalent and concerning, and gaps in care persist. The Growth and Puberty Working Group of the OPTIMIZE DMD Consortium, an international multidisciplinary group including endocrinology and neuromuscular specialists with DMD expertise, conducted a literature review and surveyed clinicians to inform updated clinical guidance on growth and puberty. This report is based on evidence where available, plus expert consensus, and thereby provides revised guidance on the investigation and management of growth and pubertal delay, as well as hypogonadism beyond the pubertal years, among individuals with DMD. It also addresses new topics subsequent to the 2018 Care Considerations, including: 1) the dissociative glucocorticoid vamorolone and its impact on growth, and 2) gonadal function in older adolescents and young adults. With the current lack of long-term data on growth and puberty outcomes, prevailing themes underscore the importance of person- and family-centered care with informed shared decision-making aligned with individualized goals plus interdisciplinary team communication. This report also highlights specific areas in these domains in need of research. Through ongoing collaborations within the OPTIMIZE DMD Consortium, growth and puberty care continues to evolve and will inform and advance research to improve the health and quality of life of individuals with DMD.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261486896"},"PeriodicalIF":3.5,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13654019/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149170083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combined qualitative and quantitative MRI reveals short-term progression in facioscapulohumeral muscular dystrophy.","authors":"Anna-Lena Mayer, Anika Starke, Valentina Schunk, Matthias Türk, Michael Uder, Arnd Dörfler, Armin M Nagel, Pierre-Yves Baudin, Elisabetta Gazzerro, Teresa Gerhalter","doi":"10.1177/22143602261491510","DOIUrl":"10.1177/22143602261491510","url":null,"abstract":"<p><p>Facioscapulohumeral muscular dystrophy (FSHD) is characterized by slowly progressive and heterogeneous muscle involvement; therefore, clinical measures show limited sensitivity to short-term change. Magnetic resonance imaging (MRI) provides useful biomarkers of muscle degeneration and disease activity. To investigate one-year longitudinal changes in lower leg muscles of patients with FSHD using qualitative (T1-weighted [T1w], STIR) and quantitative MRI (fat fraction [FF], water T2), and to assess their relationship with clinical function. Thirty-one patients with FSHD (21 men; age 44.2±17 years) and 30 matched controls underwent 3T MRI. Twenty-seven patients completed one-year follow-up. Semi-quantitative grading and quantitative measures were analyzed muscle-wise. Longitudinal changes and correlations with clinical scores were assessed. At baseline, T1w imaging showed marked inter- and intra-individual variability, with heterogeneous proximal-distal involvement in 22% of muscles and asymmetric involvement in 77% of patients. STIR hyperintensity was present in 25 patients. Over one-year, clinical decline was small (MRC: Δ=-0.26, p=0.018, SRM=-0.23; mobility: Δ=-0.41, p=0.031, SRM=-0.44). In contrast, quantitative MRI detected progression, with increases in FF (0.17±0.13 to 0.22±0.15, p<0.001, SRM=0.87), FF heterogeneity, and water T2 heterogeneity, while T1w scores and mean water T2 showed limited change. Progression was greatest in muscles with intermediate baseline FF (ΔFF/year: 0.049 vs 0.007, p<0.001). Baseline STIR and water T2 abnormalities predicted increases in FF but not T1w scores. FF correlated more strongly with clinical measures than T1w grading. Quantitative MRI is more sensitive than qualitative grading for detecting short-term disease progression in FSHD. Measures of heterogeneity and disease activity predict structural progression and represent promising biomarkers for clinical trials.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261491510"},"PeriodicalIF":3.5,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13654013/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149149435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An international patient survey of RYR1-related diseases: The patient perspective on clinical trial participation.","authors":"Lizan Stinissen, Sanne A J H van de Camp, Brentney Simon, Lindsay Goldberg, Baziel G M van Engelen, Kirsten E Bevelander, Wija Oortwijn, Nicol C Voermans","doi":"10.1177/22143602261493651","DOIUrl":"10.1177/22143602261493651","url":null,"abstract":"<p><p>Background and objective<i>RYR1</i>-related diseases (<i>RYR1</i>-RD) are a group of genetic conditions characterized by early-onset muscle weakness, causing functional impairments. An increasing number of clinical trials is on the horizon. This study aims to improve trial readiness by characterizing the patient perspective on clinical trial participation.MethodsIn collaboration with <i>RYR1</i>-RD patients and patient representatives we adapted an existing facioscapulohumeral muscular dystrophy (FSHD) survey and conducted the resulting international patient survey in 2025. We used descriptive statistics to analyze the patient characteristics and personal experiences and expectations in clinical trials.ResultsIn total 146 participants (of whom 30 with previous trial experiences), residing mainly in the Netherlands or the United States, completed the survey. Symptoms that caused the greatest difficulties in daily life, including muscle weakness, fatigue, and impaired mobility, were seen as important outcomes for future trials. The possibility to receive the trial drug and results when published were reported as facilitators of trial participation. There was a strong demand for receiving updates on ongoing and upcoming trials. Fear of side effects and travel time were reported as barriers.ConclusionA clear understanding of patients' expectations and preferences is important for relevant future clinical trials to better align with patients' needs.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261493651"},"PeriodicalIF":3.5,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13624179/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149081158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adrenal insufficiency in individuals with Duchenne muscular dystrophy treated with glucocorticoids: Insights from the past, current challenges, and future directions.","authors":"David R Weber, Alexandra Ahmet, Kathi Kinnett, Maria-Elena Lautatzis, Hugh J McMillan, Susan Apkon, Shipra Bansal, Robert W Benjamin, Paula R Clemens, Janet L Crane, Melissa Fiscaletti, Carol Lam, Laura McAdam, Meilan M Rutter, Nadia Merchant, Nat Nasomyont, Stefan Nicolau, Kim Phung, Nora Renthal, Mena Scavina, Julia Sorbara, Jaclyn Tamaroff, Cuixia Tian, Claire Wood, Tommaso Aversa, Luca Bello, Sabrina Corbetta, Francesca Cumbo, Luisa De Sanctis, Natascia Di Iorgi, Alberto Ferlin, Danilo Fintini, Eugenio Maria Mercuri, Chiara Panicucci, Gianluca Tornese, Rachel Schrader, Kathryn A Selby, Aravindhan Veerapandiyan, Sze Choong Wong, Leanne M Ward, Anne Marie Sbrocchi","doi":"10.1177/22143602261485046","DOIUrl":"10.1177/22143602261485046","url":null,"abstract":"<p><p>Duchenne muscular dystrophy (DMD) is an X-linked recessive dystrophinopathy characterized by progressive loss of muscle strength, respiratory insufficiency, cardiac dysfunction, and premature death. Despite a rapidly evolving therapeutic landscape that now includes multiple disease modifying treatments including exon skipping medications, microdystrophin gene therapy, and givinostat, high dose glucocorticoids (GCs) initiated at a young age remain central to the standard of care for DMD. Individuals treated with GCs are at high risk of adrenal insufficiency, an iatrogenic and potentially life-threatening condition that can arise from adrenal suppression caused by prolonged exposure to supraphysiologic doses of GCs. The objective of this manuscript is to provide an up-to-date review of the best practices for the management of adrenal insufficiency in individuals with DMD treated with GCs. The approach described in this document also applies to individuals with related dystrophinopathies including Becker muscular dystrophy and female manifesting carriers treated with GCs, recognizing that GCs are not standard of care for these conditions and are prescribed on an individualized basis at some centers to severely affected individuals. Key themes discussed include best practices for individual and caregiver education about adrenal suppression, creation and implementation of stress steroid plans, safe transition between GC treatment regimens, and discontinuation of GC therapy.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261485046"},"PeriodicalIF":3.5,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13597954/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149017034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Delving into the clinical and genetic spectrum of NLSDM: A case study.","authors":"Daniela Tavian, Barbara Risi, Laura Moro, Elena M Pennisi, Alessandro Padovani, Corrado Angelini, Sara Missaglia, Massimiliano Filosto","doi":"10.1177/22143602261481269","DOIUrl":"10.1177/22143602261481269","url":null,"abstract":"<p><p>Mutations in the <i>PNPLA2</i> gene, which encodes adipose triglyceride lipase (ATGL), are linked to neutral lipid storage disease with myopathy (NLSDM). This rare genetic disorder is marked by abnormal accumulation of neutral lipids in cytoplasmic lipid droplets, leading to muscle-related symptoms such as weakness, cramps and progressive myopathy in almost all patients, and cardiomyopathy in about half of the patients. Here, we report a novel <i>PNPLA2</i> variant and the clinical and MRI findings of a 42-year-old Italian male with NLSDM, revealing a myopathic pattern involving both proximal and distal muscles of all four limbs, as well as axial and facial muscles, without detectable cardiac abnormalities. Genetic testing uncovered a novel <i>PNPLA2</i> homozygous mutation, resulting in the deletion of a single amino acid in the first ATGL LC3-interacting region (LIR) motif. In addition, bioinformatic analyses predicted changes in mutated ATGL's structure that could affect its enzymatic function and impair both lipolysis and lipophagy by disrupting ATGL-LC3 interaction. Western blot analysis confirmed a block in lipophagic flux. This study broadens our understanding of the genetic and clinical heterogeneity of NLSDM, highlighting the complexity of the disease.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261481269"},"PeriodicalIF":3.5,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13593944/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149012592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cramps as the initial presentation of CANVAS/RFC1-related disorder.","authors":"Joaquín Machado, Jocelyn Zwicker, Pierre R Bourque, Hanns Lochmüller, Jodi Warman-Chardon, Alberto Aleman, Fien Oelbrandt, Ari Breiner","doi":"10.1177/22143602261485644","DOIUrl":"10.1177/22143602261485644","url":null,"abstract":"<p><p>Biallelic mutations in the <i>RFC1</i> gene are associated with CANVAS syndrome (cerebellar ataxia, neuropathy and vestibular areflexia). Peripheral nerve involvement in the form of sensory neuronopathy and small fiber autonomic axonopathy is a core feature of its presentation. Motor manifestations, in the other hand, remain poorly understood and incompletely characterized.We present two cases referred for evaluation of muscle cramps as the main clinical symptom, who were ultimately diagnosed with CANVAS. We also conducted a literature review on cramps and other motor manifestations as the predominant symptom in this condition.This study highlights the recognition of cramps as a possible isolated motor manifestation, expanding the phenotypic spectrum of <i>RFC1</i>-related disease and the need of a high index of suspicion to accurately identified the condition.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261485644"},"PeriodicalIF":3.5,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13588955/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148990241","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Report on the 7th Ottawa International Conference on Neuromuscular Disease & Biology - September 11-13, 2025, Ottawa, Canada.","authors":"Jodi Warman-Chardon, Bernard J Jasmin, Rashmi Kothary, Robin J Parks","doi":"10.1177/22143602261481647","DOIUrl":"10.1177/22143602261481647","url":null,"abstract":"<p><p>The 7th Ottawa International Conference on Neuromuscular Disease and Biology was held on September 11-13, 2025, in Ottawa, Canada. The conference brought together international experts in neuromuscular disease, biology and clinical care to provide updates on exciting developments in the field. Topics included novel disease gene identification and characterization, developments in muscle, motor neuron and stem cell biology, characterization of disease pathogenesis and current standards of care, and recent advances in therapy development.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261481647"},"PeriodicalIF":3.5,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13578128/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148977176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}