Journal of neuromuscular diseases最新文献

{"title":"Multiparametric assessment of the MyoSuit, a bi-articular exoskeleton designed to assist gait and transfers in adults with neuromuscular diseases.","authors":"Romain Feigean, Cylia Afroun-Roca, Cloé Guerrini, Juliette Souchu, Frederic Fer, Guillaume Bassez, Olivier Benveniste, Jean-Yves Hogrel, Damien Bachasson","doi":"10.1177/22143602251405914","DOIUrl":"10.1177/22143602251405914","url":null,"abstract":"<p><strong>Background: </strong>Neuromuscular diseases (NMD) cause progressive muscle weakness, significantly impairing functional abilities. Light powered assistive devices hold strong promises for improving mobility and independence in NMD. The current work investigated the efficacy and biomechanical effects of the MyoSuit that provides assistance during functional tasks, by supporting hips and knees.</p><p><strong>Methods: </strong>Seventeen adults with NMD studied during a 2-min walk test, a 10-meter walk test, and a 30-s sit-to-stand test with and without using the MyoSuit. Muscle activation, joint kinematics, and spatio-temporal gait parameters were recorded.</p><p><strong>Results: </strong>Knee extensor and hip extensor strength were 22.8 ± 42.9% and 71.2 ± 58.2% of predicted force, respectively. 2MWT was 76.3 ± 25.1% of predicted distance. Walking and sit-to-stand performances were reduced. Significantly, cadence, and stride length decreased, while step duration increased. Muscle activation showed decreased <i>rectus femoris</i> and altered timing in <i>gluteus maximus</i> and <i>gastrocnemius medialis</i>. The range of motion of hip abduction-adduction increased, and hip flexion-extension decreased during gait. Major contributors to reduced gait performance as identified using a LASSO were longer double support and step duration, and lower stride length, foot strike angle and variability in lateral step and hip adduction.</p><p><strong>Conclusion: </strong>The MyoSuit was not associated with improvements in functional performance in NMD. The use of the device was associated with kinematic alterations and the assistance provided alleviated recruitment of the rectus femoris. The proposed approach is promising but further tailoring of the device is required to address specific needs of individuals with severe muscle weakness.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"919-936"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438525/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145933786","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":"A randomized, double-blind, placebo-controlled study of losmapimod in patients with facioscapulohumeral muscular dystrophy: Results of the REACH study.","authors":"Nicol C Voermans, Jeffrey M Statland, Lawrence J Hayward, Angela Rosenbohm, Adolfo López de Munain, Sabrina Sacconi, Doris G Leung, Umesh A Badrising, John Vissing, Benedikt Schoser, Nuria Muelas, Hanns Lochmüller, Enrico Bugiardini, Leo H Wang, Lorenzo Maggi, Thomas Ragole, Alan Pestronk, Johanna I Hamel, Namita A Goyal, Lawrence Korngut, Elie Naddaf, Amy Harper, Perry B Shieh, Cornelia Kornblum, Valeria Sansone, Angela Genge, Giorgio Tasca, John Jiang, Marie-Helene Jouvin, Rabi Tawil","doi":"10.1177/22143602261419558","DOIUrl":"10.1177/22143602261419558","url":null,"abstract":"<p><strong>Background: </strong>Losmapimod is an orally administered small molecule and selective p38α/β mitogen-activated protein kinase (MAPK) inhibitor able to reduce aberrant expression of <i>DUX4 in vitro</i> and thereby potentially slowing disease progression in patients with facioscapulohumeral muscular dystrophy (FSHD).</p><p><strong>Objective: </strong>This global, randomized, placebo-controlled, double-blind phase 3 study in patients with FSHD1 and FSHD2 examined the efficacy and safety of losmapimod over a 48-week treatment period compared to placebo (NCT05397470, EUDRACT 2022-000389-16).</p><p><strong>Methods: </strong>The primary endpoint was change in quantification of reachable workspace (RWS) expressed as relative surface area (RSA). Other endpoints included measures of muscle composition (fat content and lean muscle) using magnetic resonance imaging (MRI), muscle strength using quantitative dynamometry, and quality of life measures.</p><p><strong>Results: </strong>130 participants received losmapimod and 130 participants received placebo, with 252 participants completing the 48-week treatment period. There were no statistically significant differences between groups in change in RSA and all secondary efficacy endpoints from baseline to Week 48. Losmapimod treatment was well-tolerated, and most adverse events were mild.</p><p><strong>Conclusions: </strong>Losmapimod was generally well tolerated with a favorable safety profile at a dose of 15 mg twice daily. Although none of the efficacy endpoints were met, study design and data from the study may inform future studies of FSHD therapies.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"1049-1064"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13442687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146131721","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 natural history of Becker muscular dystrophy: A systematic literature review.","authors":"Alexis T Mickle, Karissa M Johnston, Kristen L Ricchetti-Masterson, Andrew R Kennedy, Sarah Gc Korpach, Katherine L Gooch","doi":"10.1177/22143602261420045","DOIUrl":"10.1177/22143602261420045","url":null,"abstract":"<p><strong>Background: </strong>Becker muscular dystrophy (BMD) is caused primarily by in-frame mutations in the <i>DMD</i> gene. Phenotype varies from asymptomatic to severe; manifestations may include muscle weakness, scoliosis, cardiac involvement, loss of ambulation, respiratory impairment, cognitive dysfunction, and premature death. This study aimed to characterize the frequency and age at occurrence of these milestones.</p><p><strong>Methods: </strong>A systematic literature review (SLR) was refreshed in 2022 using MEDLINE and EMBASE to identify articles describing the natural history of BMD. The proportion of patients experiencing clinical milestones was reported by 'life-stage' age groups (0-17; 18-40; 41+ years) using patient-level data from the general BMD population; age at each milestone's occurrence as mean (standard deviation [SD]).</p><p><strong>Results: </strong>From 4948 abstracts screened, 121 publications were included. Among 36 general BMD population studies, by age 41+ years (lifetime-risk proxy), 93.6% experienced muscle weakness; 69.4% cardiac involvement; 55.6% scoliosis; 47.4% loss of ambulation; and 33.3% ventilation. Decreased cognitive function or cognitive dysfunction were reported in 41% across all ages. Among those experiencing milestones (79 studies), mean (SD) age at symptom onset was 12.5 (9.7); muscle weakness, 19.9 (11.7); scoliosis, 24.9 (3.1); cardiac involvement, 31.9 (13.4); loss of ambulation, 33.3 (13.5); ventilation, 35.7 (12.2); and death at 55.6 (19.4) years. Data availability ranged from three to 1079 patients/outcome.</p><p><strong>Conclusions: </strong>This SLR highlights the variability in disease presentation in BMD. Stratifying BMD populations into phenotype groups based on the full spectrum of clinical manifestations may better capture disease progression and enhance comparability across studies.Included clinical trials:ClinicalTrials.gov NCT01070511 (https://clinicaltrials.gov/study/NCT01070511), ClinicalTrials.gov NCT02147639 (https://clinicaltrials.gov/study/NCT02147639?term=Becker%20Muscular%20Dystrophy&intr=Sodium%20Nitrate&rank=3), ClinicalTrials.gov NCT01350154 and EudraCT number: 2010-024659-10 (https://clinicaltrials.gov/study/NCT01350154?term=NCT01350154&rank=1; https://www.clinicaltrialsregister.eu/ctr-search/trial/2010-024659-10/results).</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"1140-1158"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146165493","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":"Muscle involvement in women carrying pathogenic <i>DMD</i> gene variants: A 6.5-year follow-up study.","authors":"Zhe Lyu, Nanna Scharff Poulsen, Heini Joensen, Freja Fornander, Tuva Åsatun Solheim, Morten Dunø, John Vissing","doi":"10.1177/22143602251408549","DOIUrl":"10.1177/22143602251408549","url":null,"abstract":"<p><strong>Background and objective: </strong>Women carrying pathogenic <i>DMD</i> gene variants can develop muscle affection, such as muscle weakness and fat replacement. The long-term progression of the muscle involvement is unknown. This study investigates the 6.5-year changes in muscle function and -fat fraction in women carrying pathogenic <i>DMD</i> gene variants to enhance understanding of disease progression and its natural history.</p><p><strong>Methods: </strong>Muscle structure and -function were investigated at baseline and after 6.5 years in 34 women carrying pathogenic <i>DMD</i> gene variants (19 predicted to confer Duchenne Muscular Dystrophy (DMD), 15 Becker Muscular Dystrophy (BMD)). After a clinical evaluation, muscle fat fraction was assessed using Dixon MRI, muscle strength with isokinetic dynamometry, and muscle biomarkers with blood samples for creatine kinase and myoglobin.</p><p><strong>Results: </strong>Muscle fat fraction in the lower back, thigh, and calf increased significantly over 6.5 years. The average increases were generally less than 2%, but some carriers with significant baseline abnormalities experienced a more substantial increase in fat fraction, reaching as high as 31%. Although overall disease progression did not differ significantly between DMD and BMD carriers, all women who showed rapid progression were DMD carriers. Small but significant changes occurred in muscle strength and biomarkers.</p><p><strong>Discussion: </strong>The progression of muscle involvement in women carrying pathogenic <i>DMD</i> gene variants is generally slow. However, those with severe baseline abnormalities on MRI-often associated with a lower age of symptom onset-experience a more rapid progression of muscle fat fraction, suggesting that baseline MRI findings could help predict future disease progression in this population.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"937-945"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438730/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145944588","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":"Response to noninvasive home mechanical vEntilation in Myotonic Dystrophy type 1: The multicenter REMeDY study.","authors":"Bettine Ah Vosse, Leandre André la Fontaine, Nicolle Cobben, Danielle Kock-Cordeiro, Anda Hazenberg, Michael Gaytant, P J Wijkstra, Catharina Faber","doi":"10.1177/22143602261428053","DOIUrl":"10.1177/22143602261428053","url":null,"abstract":"<p><p>Myotonic dystrophy type 1 (DM1) frequently leads to chronic respiratory failure, yet the effectiveness of noninvasive home mechanical ventilation (HMV) remains understudied. Our objective was to assess the effects of HMV on gas exchange, health-related quality of life (HRQL), and daily functioning, and to explore baseline predictors of treatment response. A prospective multicenter study was conducted in which clinical data, pulmonary function tests, blood gas analysis, polysomnography and overnight pulse oximetry with transcutaneous CO₂ monitoring, and validated questionnaires were collected at baseline and after six months of treatment. Paired t-tests and correlation analyses assessed treatment outcomes and predictive factors. Forty participants (mean age 46.6 years, 63% male) were enrolled, and follow-up data of 38 participants were available for analysis. After six months of treatment, significant improvements in gas exchange were observed with a reduction in daytime pCO₂ of 0.48 ± 0.81 kPa (p = 0.001) and nocturnal mean pCO₂ of 0.92 ± 0.81 kPa (p < 0.001). HRQL, assessed with the Severe Respiratory Insufficiency (SRI) questionnaire, improved significantly, with a mean increase of 9.9 ± 8.9 points (p < 0.001).No significant changes were seen in daily functioning measured with the DM1-Activ^C questionnaire. Improvements in nocturnal pCO₂ correlated with HRQL gains (r = 0.427, p < 0.021), while baseline characteristics were not predictive of response. This prospective multicenter study demonstrates that nocturnal HMV is associated with significant improvements in gas exchange and HRQL in patients with DM1 over six months.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"1099-1106"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147307080","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":"Not only cross-sectional area: Echogenicity matters in nerve ultrasound studies of patients with motor multifocal neuropathy.","authors":"Simona Maccora, Sabrina Sacconi, Nicolas Azulay, Mihai Bogdan Ioncea, Andra Ezaru, Michele Cavalli, Luisa Villa, Giulia Tammam, Charles Raffaelli, Angela Puma","doi":"10.1177/22143602261426071","DOIUrl":"10.1177/22143602261426071","url":null,"abstract":"<p><p>Nerve ultrasound (n-US) supports the diagnosis of multifocal motor neuropathy (MMN), though most studies focus on nerve enlargement (NE) and its distribution. This study explored nerve echotexture using ultrahigh-frequency ultrasound (UH-FUS) in 13 MMN patients (mean age 61.9 years, disease duration 147 ± 105 months). NE was detected in 77%, preferentially involving median nerve, yet conduction blocks corresponded to NE in only 15%. Notably, 92% showed mixed/hyperechoic echotexture, including three patients with normal CSA, suggesting microstructural remodeling beyond swelling. No hypoechoic nerves were observed, consistent with limited acute inflammation. Combining echogenicity with NE assessment may improve n-US sensitivity, especially in atypical MMN.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"1134-1139"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13437737/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147355686","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":"Burden of illness of Duchenne muscular dystrophy in Belgium: A retrospective, descriptive, cross-sectional study.","authors":"Sam Geuens, Lauranne Beeckman, Stephen Dukacz, Jonathan Evans, Eva Gielis, Cheryl Jones, Nikita Lamaire, Nate Posner, Thomas Van Stappen, Yunchou Wu, Liesbeth De Waele, Kristl G Claeys","doi":"10.1177/22143602261432406","DOIUrl":"10.1177/22143602261432406","url":null,"abstract":"<p><p>Duchenne muscular dystrophy (DMD) is a progressive, neuromuscular disorder with significant morbidity and mortality. This study aimed to quantify the socioeconomic burden of DMD in Belgium, assessing direct medical and non-medical costs, indirect costs and health-related quality of life (HRQoL) using the University of Leicester's 8-stage model for DMD. A descriptive, retrospective, cross-sectional burden-of-illness study was conducted at an expert DMD center in Belgium between 02-11-2023 and 16-06-2024. One pediatric and one adult neuromuscular specialist from the University Hospitals Leuven completed an electronic Case Report Form using patient electronic medical records capturing demographics, clinical data, and data on healthcare resource utilization over the prior 12 months. Patients under medical follow-up were invited to participate and provided written informed consent (N = 40). Costs were sourced through the Belgian National Institute for Health and Disability Insurance and the Belgian Center for Pharmacotherapeutic Information. A questionnaire was given to the participants and their parents to collect additional costs, HRQoL, and caregiver burden. The estimated mean annual societal cost per Belgian DMD patient was €134,337, with costs ranging from €115,336 in early disease stages to €153,339 in late disease stages. Direct non-medical costs were the largest contributor, followed by indirect costs, primarily due to loss of productivity. HRQoL declined with disease progression. Caregiver burden remained high across all disease stages. DMD imposes a significant socioeconomic burden on patients, caregivers, and society in Belgium. The findings underscore the importance of improving access to supportive therapies and interventions.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"1115-1126"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13437984/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147458019","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":"Strengthening clinical capacity in spinal muscular atrophy: Developing and implementing training on clinical outcome assessments.","authors":"Homira Osman, Maria Masnata, Zainab Adamji, Xavier Rodrigue, Cam-Tu Émilie Nguyen, Jeremy Slayter, Erin Beattie, Stacey Lintern, Hanns Lochmuller, Colleen O'Connell, Cynthia Gagnon, Jodi Warman-Chardon","doi":"10.1177/22143602261416298","DOIUrl":"10.1177/22143602261416298","url":null,"abstract":"<p><strong>Background: </strong>Clinical Outcome Assessments (COAs) are essential for monitoring progression and treatment response in neuromuscular diseases. However, substantial variability exists in training, confidence, and implementation of COAs among clinical evaluators working with individuals with Spinal Muscular Atrophy (SMA). This study aimed to identify and address these gaps within the Canadian clinical context through a phased educational initiative guided by the Rare Knowledge Mining Methodological Framework (RKMMF).</p><p><strong>Methods: </strong>A qualitative, phased design was used. A needs assessment with 71 physiotherapists and occupational therapists via focus groups identified inconsistent access to SMA-specific training and challenges in applying standardized assessments. Based on these findings, expert faculty co-developed and delivered bilingual workshops incorporating real-world evaluation videos, simulation-based learning, and multidisciplinary case discussions. Pre- and post-workshop surveys, based on an adapted Kirkpatrick Model, measured changes in familiarity, preparedness, and clinical confidence. Data were analyzed using thematic content analysis and descriptive statistics.</p><p><strong>Results: </strong>Seventy-nine evaluators from Canada participated. Pre-workshop data revealed major gaps in familiarity with SMA-specific COAs. Post-workshop surveys indicated a 75% average increase in self-reported preparedness, with the greatest gains in the Adapted Test of Neuromuscular Disorders 3.0. Four key themes emerged: limited training and support networks; the critical role of multidisciplinary collaboration; constraints of current COAs due to ceiling and floor effects; and the value of integrating patient-reported outcomes in clinical practice.</p><p><strong>Conclusion: </strong>Peer-led, evidence-informed workshops significantly improved clinical preparedness in SMA assessment. These findings support the need for ongoing training strategies and demonstrate the RKMMF as a scalable approach for capacity-building in rare disease care.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"1014-1026"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13443071/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146018869","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":"Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacity.","authors":"Daniël van As, Tine Claeys, Renee Salz, Delphi Van Haver, Sara Dufour, Amber van Deelen, Jolein Gloerich, Ralf Gabriels, Pieter Jan Volders, Vera Dobelmann, Andrea Gangfuss, Tobias Ruck, Genevieve Gourdon, Elise Duchesne, Cynthia Gagnon, Andreas Roos, Alain van Gool, Francis Impens, Lennart Martens, Hanns Lochmüller, Benedikt Schoser, Guillaume Bassez, Baziel Gm van Engelen, Peter Ac 't Hoen","doi":"10.1177/22143602251410443","DOIUrl":"10.1177/22143602251410443","url":null,"abstract":"<p><p>BackgroundMyotonic Dystrophy Type 1 (DM1), the most common genetic neuromuscular disorder in adults, poses significant challenges for drug development due to its multisystem nature and high clinical variability in symptoms and disease progression. With a growing number of therapies entering clinical trials, this study addresses the urgent need for biomarkers that can serve as surrogate endpoints.MethodsWe profiled 437 serum samples from adult DM1 patients collected at two timepoints of the OPTIMISTIC trial using bottom-up mass spectrometry with data-independent acquisition. Associations between protein expression, the disease-causing CTG-repeat and 25 clinical outcome measures were studied using linear mixed-effect models. All key study findings were validated in an independent cohort of 69 DM1 patients and 10 healthy controls.ResultsOf the 259 identified proteins, 161 showed significant associations with the CTG-repeat length (FDR < 5%). Hypogammaglobulinemia was confirmed and shown to be worse in severely affected patients. A strong proteomic signature was associated with clinical measures of functional capacity, with the 6-Minute Walk Test showing the strongest signal (70 associations, FDR < 5%). These novel associations reveal a compelling link between chronic inflammation and reduced functional capacity. A machine learning algorithm identified a minimal set of 13 proteins robustly reflecting both the underlying genetic defect and functional capacity.ConclusionsDM1 induces a broad disease fingerprint in the serum proteome, predominantly affecting proteins of the immune system. A carefully selected panel of proteins showed the greatest potential to meet the statistical criteria required for surrogate endpoints in clinical trials.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"992-1013"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13443340/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145989519","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":"Congenital core myopathy linked to <i>SOX5</i>: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.","authors":"Katia Staedler, Anna Gerasimenko, Caroline Nava, Delphine Heron, Elodie Schaerer, Cyril Gitiaux, François-Jerôme Authier, Tanya Stojkovic, Edoardo Malfatti, Rocio-Nur Villar-Quiles","doi":"10.1177/22143602261428296","DOIUrl":"10.1177/22143602261428296","url":null,"abstract":"<p><p>Haploinsufficiency of <i>SOX5</i> causes Lamb-Shaffer syndrome, a rare condition with developmental delay, impaired language and intellectual disability and optic nerve abnormalities. Muscle involvement is poorly characterized. We report a 20-year-old woman with neonatal hypotonia, delayed motor milestones, proximal weakness and learning difficulties. Serum creatine kinase was normal. Electroneuromyography revealed a mild myogenic pattern. Muscle biopsy revealed myopathic changes, with cores and protein aggregates. Whole genome sequencing disclosed a heterozygous pathogenic variant in the <i>SOX5</i> gene. This case expands the phenotypic spectrum of Lamb-Shaffer syndrome, confirming primary muscle involvement with core myopathy.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"1127-1133"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438834/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147284363","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}