Journal of neuromuscular diseases最新文献

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Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome. 与SOX5相关的先天性核心肌病:扩大Lamb-Shaffer综合征的表型谱。
IF 3.5 4区 医学
Journal of neuromuscular diseases Pub Date : 2026-09-01 Epub Date: 2026-02-25 DOI: 10.1177/22143602261428296
Katia Staedler, Anna Gerasimenko, Caroline Nava, Delphine Heron, Elodie Schaerer, Cyril Gitiaux, François-Jerôme Authier, Tanya Stojkovic, Edoardo Malfatti, Rocio-Nur Villar-Quiles
{"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}
引用次数: 0
Therapeutic strategies targeting muscle stem cells in satellite cell-opathies. 针对卫星细胞病肌肉干细胞的治疗策略。
IF 3.5 4区 医学
Journal of neuromuscular diseases Pub Date : 2026-09-01 Epub Date: 2026-02-19 DOI: 10.1177/22143602251414570
Pauline Garcia, Inès Mokhtari, Nicolas A Dumont
{"title":"Therapeutic strategies targeting muscle stem cells in satellite cell-opathies.","authors":"Pauline Garcia, Inès Mokhtari, Nicolas A Dumont","doi":"10.1177/22143602251414570","DOIUrl":"10.1177/22143602251414570","url":null,"abstract":"<p><p>Satellite cells, the resident muscle stem cells, are essential for skeletal muscle post-natal growth and regeneration. Dysfunction in these cells contributes to a group of muscle disorders known as satellite cell-opathies, which can be categorized into primary and secondary forms. Primary satellite cell-opathies stem from intrinsic defects within satellite cells, including genetic mutations that impair their survival, self-renewal, proliferation, or differentiation. Alternatively, secondary satellite cell-opathies result from pathological conditions affecting both the satellite cells and the muscle fibers. This review explores the pathophysiology of satellite cell-opathies, highlighting key molecular mechanisms underlying their dysfunction. Additionally, we discuss emerging therapeutic approaches, including gene therapy, pharmacological interventions, and cell-based therapies, which aim to restore satellite cell function and promote muscle regeneration. A deeper comprehension of these mechanisms and satellite cell-targeted strategies is essential to drive the development of innovative therapies for this emerging class of muscle disorders.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"875-897"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438903/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146227168","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}
引用次数: 0
Choosing the optimal mouse model for the study of late-onset spinal muscular atrophy: Why the 4-copy SMN2 model offers ideal translational relevance. 选择研究迟发性脊髓性肌萎缩的最佳小鼠模型:为什么4拷贝SMN2模型具有理想的翻译相关性
IF 3.5 4区 医学
Journal of neuromuscular diseases Pub Date : 2026-09-01 Epub Date: 2026-01-16 DOI: 10.1177/22143602251405151
Markus Leo, Linda-Isabell Schmitt, Kai Christine Liebig, Stefanie Hezel, Svenja Neuhoff, Andreas Roos, Christoph Kleinschnitz, Markus Weiler, Rene Günther, Ulrike Schara-Schmidt, Peter Claus, Tim Hagenacker
{"title":"Choosing the optimal mouse model for the study of late-onset spinal muscular atrophy: Why the 4-copy <i>SMN2</i> model offers ideal translational relevance.","authors":"Markus Leo, Linda-Isabell Schmitt, Kai Christine Liebig, Stefanie Hezel, Svenja Neuhoff, Andreas Roos, Christoph Kleinschnitz, Markus Weiler, Rene Günther, Ulrike Schara-Schmidt, Peter Claus, Tim Hagenacker","doi":"10.1177/22143602251405151","DOIUrl":"10.1177/22143602251405151","url":null,"abstract":"<p><p>Spinal muscular atrophy (SMA) comprises a spectrum of clinical severities, yet the pathomechanisms of late-onset forms (Type III) remain insufficiently understood. While severe early-onset SMA has been extensively investigated using existing models, their translational relevance to adult disease is limited. Here, we recommend the 4-copy <i>SMN2</i> mouse (FVB.Cg-<i>Smn1</i>tm1Hung Tg(<i>SMN2</i>)2Hung/J) as the most appropriate model for late-onset SMA. This model exhibits delayed onset, progressive motor dysfunction, and extended survival, enabling the study of chronic neurodegenerative processes, including astrocyte-mediated motor neuron pathology. Its prolonged therapeutic window makes the model suitable for mechanistic and translational investigations of late-onset SMA.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"869-874"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145989468","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}
引用次数: 0
Longitudinal cohort study of muscle function and metabolic biomarkers in disease-modifying treatment of spinal muscular atrophy. 脊髓性肌萎缩疾病改善治疗中肌肉功能和代谢生物标志物的纵向队列研究。
IF 3.5 4区 医学
Journal of neuromuscular diseases Pub Date : 2026-09-01 Epub Date: 2026-01-28 DOI: 10.1177/22143602261417556
Lisa Pomp, Jeroen A L Jeneson, Jeanine J Prompers, Mark Gosselink, Gabriela B Q Davoli, Aidin Haghnejad, Fay-Lynn Asselman, W Ludo van der Pol, Bart Bartels
{"title":"Longitudinal cohort study of muscle function and metabolic biomarkers in disease-modifying treatment of spinal muscular atrophy.","authors":"Lisa Pomp, Jeroen A L Jeneson, Jeanine J Prompers, Mark Gosselink, Gabriela B Q Davoli, Aidin Haghnejad, Fay-Lynn Asselman, W Ludo van der Pol, Bart Bartels","doi":"10.1177/22143602261417556","DOIUrl":"10.1177/22143602261417556","url":null,"abstract":"<p><p>Disease-modifying treatments (DMT) for spinal muscular atrophy (SMA) developed in the past decade have improved the prognosis of patients with this severe condition. However, treatment effects vary, highlighting the need for sensitive predictive biomarkers to identify individuals more likely to respond to DMT. A previous study detected changes in mitochondrial oxidative capacity in SMA arm muscles, using 31-phosphorus magnetic resonance spectroscopy (<sup>31</sup>P MRS). Here, we investigated whether <sup>31</sup>P MRS can distinguish responders from non-responders to DMT. In this longitudinal observational cohort study, patients with SMA were assessed at baseline, two months, and ten months after initiation of DMT treatment. We used a 7 Tesla MR scanner equipped with a custom-built ergometer that allowed for individual mechanical loading and metabolic analysis of the upper arm muscles. Maximal voluntary contraction (MVC) force and motor functional scores were measured before each MR examination. Responders to DMT were defined as those who gained ≥20% in MVC after ten months of treatment. Seven non-ambulatory and five ambulatory patients with SMA starting DMT were included. Four patients fulfilled the MVC response criterion. While significant correlations were observed between MVC force and <i>in vivo</i> metabolic readouts of muscle phenotype, the latter could not longitudinally discriminate responders from non-responders to DMT. Our MR platform for single-arm muscle exercise provides a non-invasive tool for monitoring treatment response in both ambulatory and non-ambulatory patients. Further studies involving larger cohorts will be necessary to establish the diagnostic value of <sup>31</sup>P MRS in evaluating DMT efficacy in SMA and other neuromuscular diseases.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"1027-1038"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438980/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148684875","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}
引用次数: 0
Translational behavioral phenotypes in DMSXL mice for CNS manifestations of DM1. DMSXL小鼠DM1中枢神经系统表现的翻译行为表型。
IF 3.5 4区 医学
Journal of neuromuscular diseases Pub Date : 2026-09-01 Epub Date: 2026-01-14 DOI: 10.1177/22143602251410998
Elisabetta Golini, Aline Huguet-Lachon, Hélène Benyamine, Noëmy Forasté Gueriba, Ferdinando Scavizzi, Marcello Raspa, Germana Falcone, Beatrice Cardinali, Silvia Mandillo, Geneviève Gourdon
{"title":"Translational behavioral phenotypes in DMSXL mice for CNS manifestations of DM1.","authors":"Elisabetta Golini, Aline Huguet-Lachon, Hélène Benyamine, Noëmy Forasté Gueriba, Ferdinando Scavizzi, Marcello Raspa, Germana Falcone, Beatrice Cardinali, Silvia Mandillo, Geneviève Gourdon","doi":"10.1177/22143602251410998","DOIUrl":"10.1177/22143602251410998","url":null,"abstract":"<p><strong>Background: </strong>Myotonic dystrophy type 1 (DM1) is a multisystemic disorder frequently associated with central nervous system (CNS) involvement, especially in congenital and childhood-onset forms. However, behavioral alterations in preclinical models have so far been only partially characterized, underscoring the need for more comprehensive analyses to support the development of targeted therapeutic approaches.</p><p><strong>Objective: </strong>This study aimed to provide a comprehensive behavioral characterization of DMSXL mice, a transgenic model carrying large CTG repeat expansions in the human <i>DMPK</i> gene, to identify robust and translational CNS-relevant phenotypes for preclinical studies.</p><p><strong>Methods: </strong>Using both longitudinal and cross-sectional designs, we assessed a wide range of behavioral domains including motor function, emotional reactivity, cognition, and social interaction over time in DMSXL mice. The study was conducted in two independent laboratories with complementary expertise in DM1 pathophysiology and behavioral phenotyping.</p><p><strong>Results: </strong>DMSXL mice displayed a consistent pattern of behavioral alterations reflecting CNS dysfunction. These alterations included dysregulation of emotional responses such as altered anxiety-like behavior and impaired risk evaluation, subtle deficits in object recognition and spatial memory, and reduced sociability and social discrimination. Sensorimotor gating and goal-directed behaviors were also affected, while working memory and general locomotion during open field exploration were largely preserved.</p><p><strong>Conclusions: </strong>This study defines a constellation of behavioral impairments in DMSXL mice that mirror CNS symptoms in DM1 patients and establishes a set of sensitive, age-dependent endpoints suitable for CNS-targeted therapeutic evaluation. The behavioral framework presented here offers valuable guidance for the design of future preclinical trials in DM1.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"955-982"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438487/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145984967","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}
引用次数: 0
Characteristics of muscle cramps as a prodromal symptom of sporadic amyotrophic lateral sclerosis. 散发性肌萎缩性侧索硬化症前驱症状肌肉痉挛的特征。
IF 3.5 4区 医学
Journal of neuromuscular diseases Pub Date : 2026-09-01 Epub Date: 2026-02-06 DOI: 10.1177/22143602261422971
Shota Komori, Daisuke Ito, Atsushi Hashizume, Shinichiro Yamada, Yoshiyuki Kishimoto, Takahiro Kawase, Ayano Kondo, Masashi Suzuki, Mai Hatanaka, Chisato Oba, Masahisa Katsuno
{"title":"Characteristics of muscle cramps as a prodromal symptom of sporadic amyotrophic lateral sclerosis.","authors":"Shota Komori, Daisuke Ito, Atsushi Hashizume, Shinichiro Yamada, Yoshiyuki Kishimoto, Takahiro Kawase, Ayano Kondo, Masashi Suzuki, Mai Hatanaka, Chisato Oba, Masahisa Katsuno","doi":"10.1177/22143602261422971","DOIUrl":"10.1177/22143602261422971","url":null,"abstract":"<p><strong>Background: </strong>Prodromal symptoms of sporadic amyotrophic lateral sclerosis (SALS) including muscle cramps were reported; however, their detailed characteristics have not been sufficiently studied.</p><p><strong>Objectives: </strong>To clarify the detailed profiles of prodromal symptoms in SALS.</p><p><strong>Methods: </strong>Patients with SALS (n = 47) and healthy controls (n = 25) were enrolled. A questionnaire-based survey was conducted to investigate symptoms before and after disease onset, including sensory, autonomic, sleep, cognitive disturbances, and frequent muscle cramps. Frequent muscle cramps were defined as those occurring at least twice per month in the lower limbs, or at least once per month in the upper limbs or trunk. We evaluated the relationship between surveyed symptoms and clinical characteristics.</p><p><strong>Results: </strong>Prodromal frequent muscle cramps were observed in 29.8% of SALS patients, most frequently in the lower limbs. With disease progression, the sites with cramps increased, and the frequency of cramps during awakening also increased. The SALS patients with prodromal cramps had greater lean mass than those without (<i>p</i> = 0.023). Multivariate analysis showed that the presence of cramps after disease onset was associated with a slower longitudinal decline in the ALSFRS-R score (<i>p</i> = 0.048). Upper limb-onset SALS patients experienced cramps more frequently before onset than bulbar-onset patients did (<i>p</i> = 0.033).</p><p><strong>Conclusions: </strong>Frequent muscle cramps often precede muscle weakness during the prodromal phase of limb-onset SALS. The frequency of cramps increased with disease progression. Prodromal cramps were associated with lean mass, whereas cramps after disease onset were associated with a slower rate of disease progression.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"1065-1075"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438481/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146131724","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}
引用次数: 0
Minute-by minute gait variations during the 6-Minute walk test in subjects with myotonic dystrophy type 1. 1型肌强直性营养不良患者6分钟步行试验中每分钟的步态变化。
IF 3.5 4区 医学
Journal of neuromuscular diseases Pub Date : 2026-09-01 Epub Date: 2026-02-12 DOI: 10.1177/22143602251400499
Fabio Alexander Storm, Eleonora Diella, Luca Emanuele Molteni, Morena Delle Fave, Giovanni Meola, Emilia Biffi, Maria Grazia D'Angelo
{"title":"Minute-by minute gait variations during the 6-Minute walk test in subjects with myotonic dystrophy type 1.","authors":"Fabio Alexander Storm, Eleonora Diella, Luca Emanuele Molteni, Morena Delle Fave, Giovanni Meola, Emilia Biffi, Maria Grazia D'Angelo","doi":"10.1177/22143602251400499","DOIUrl":"10.1177/22143602251400499","url":null,"abstract":"<p><strong>Background: </strong>Myotonic Dystrophy Type 1 is a rare multisystem disorder, with symptoms including progressive muscle weakness, myotonia and fatigue. Although mobility measures are now common in several tests performed in clinics, their quantification using wearable sensors have not been significantly explored in the literature. This study investigated variation of gait characteristics during prolonged walking in individuals with Myotonic Dystrophy Type 1 using a single wearable sensor, and their association with gait fatigability proxies.</p><p><strong>Methods: </strong>Forty-two subjects with Myotonic Dystrophy Type 1 and 15 healthy controls performed a 6-min walk test while wearing a single lumbar-mounted inertial measurement unit. Minute-by-minute gait parameters were extracted and compared between groups using repeated-measures ANOVA. Correlation analysis was performed to examine whether changes in gait parameters were related to motor functional ability levels.</p><p><strong>Results: </strong>Patients demonstrated significantly impaired gait compared to controls, with reduced speed, cadence, step length, and increased stride time variability. While controls and mildly affected subjects showed similar temporal patterns, including a speed decrease in mid-test followed by recovery in the final minute, moderately affected subjects maintained a stable but slower pace throughout. Changes in cadence across the test were weakly but significantly correlated with clinical disability measures.</p><p><strong>Conclusion: </strong>Wearable sensors worn during prolonged walking assessments can detect subtle gait alterations in Myotonic Dystrophy Type 1 that vary by disability level, potentially serving as objective outcome measures for monitoring disease progression and evaluating therapeutic interventions.</p><p><strong>Trial registration: </strong>The trial was retrospectively registered in Clinicaltrials.gov (NCT06666816, date of registration 31/10/2024). URL: https://clinicaltrials.gov/study/NCT06666816.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"1076-1087"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438905/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146180633","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}
引用次数: 0
Trunk control status in children with neuromuscular disorders and typically developing children: Is there a measurable difference? 神经肌肉疾病儿童和正常发育儿童的躯干控制状态:有可测量的差异吗?
IF 3.5 4区 医学
Journal of neuromuscular diseases Pub Date : 2026-09-01 Epub Date: 2026-02-19 DOI: 10.1177/22143602251411482
Tania E Sakanaka, Penelope B Butler, Richa Kulshrestha, Tracey Willis, Ian D Loram
{"title":"Trunk control status in children with neuromuscular disorders and typically developing children: Is there a measurable difference?","authors":"Tania E Sakanaka, Penelope B Butler, Richa Kulshrestha, Tracey Willis, Ian D Loram","doi":"10.1177/22143602251411482","DOIUrl":"10.1177/22143602251411482","url":null,"abstract":"<p><strong>Aim: </strong>To test sensitivity of the Segmental Assessment of Trunk Control (SATCo) to changes in neutral vertical (NV) head and trunk control in children with neuromuscular disorders (NMD) and compared with typically developing (TD) children.</p><p><strong>Methods: </strong>In this observational cross-sectional study, SATCo was applied in 19 children with NMD (10y6 m(3y7 m), 2 female) and 19 TD children (7y10 m(4y12 m), 6 female). Statistical differences between <i>condition</i> (NMD and TD), <i>segment</i> (seven trunk segments), and <i>control type</i> (static, active, and reactive control), and relationship between age and SATCo outcomes were analysed with linear mixed-effects models (LME).</p><p><strong>Results: </strong>SATCo scores were measurably different between <i>conditions</i> (F<sub>(1, 39.6)</sub> = 151.0, p < .001), <i>segments</i> (F<sub>(6, 138.3)</sub> = 23.3, p < .001), <i>control type</i> (F<sub>(2, 33.0)</sub> = 6.3, p = .005), and interactions <i>condition segment</i> (F<sub>(6, 138.3)</sub> = 23.3, p < .001) and <i>condition control type</i> (F<sub>(2, 33.0)</sub> = 6.3, p = .005). A significant relationship between decreasing active control and increasing age in 10 children with Duchenne muscular dystrophy confirmed measurable decline in trunk control following diagnosis.</p><p><strong>Conclusion: </strong>The results showed that SATCo is sensitive to differences in trunk control status in NMD. While still ambulatory, children with NMD presented already a measurable trunk control deficit at varying segments. SATCo has potential as an outcome measure for therapeutic interventions or effectiveness of treatments promoting NV trunk control in children with NMD and needs further study.What this paper addsNeutral vertical head/trunk control was different between NMD and TD childrenSATCo is sensitive to head/trunk control differences between NMD and TD childrenAmbulant children with NMD showed measurable head/trunk control deficit at various segmentsSATCo detected subtle head/trunk control changes in early disease stages of NMDActive segmental trunk control declines with increasing age in Duchenne muscular dystrophy.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"1088-1098"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13437727/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146227190","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}
引用次数: 0
Meeting report: 2024 Muscular Dystrophy Association summit on 'Safety and challenges in gene therapy of neuromuscular diseases'. 会议报告:2024肌肉萎缩协会峰会“神经肌肉疾病基因治疗的安全性和挑战”。
IF 3.5 4区 医学
Journal of neuromuscular diseases Pub Date : 2026-09-01 Epub Date: 2026-01-19 DOI: 10.1177/22143602251364325
Angela Lek, Evrim Atas, Brian Lin, Sharon E Hesterlee, Carsten G Bönnemann, Barry J Byrne
{"title":"Meeting report: 2024 Muscular Dystrophy Association summit on 'Safety and challenges in gene therapy of neuromuscular diseases'.","authors":"Angela Lek, Evrim Atas, Brian Lin, Sharon E Hesterlee, Carsten G Bönnemann, Barry J Byrne","doi":"10.1177/22143602251364325","DOIUrl":"10.1177/22143602251364325","url":null,"abstract":"<p><p>This meeting report summarizes the presentations and discussions held at the summit on 'Challenges in Gene Therapy' hosted by the Muscular Dystrophy Association (MDA) in 2024. Topics broadly cover <i>in vitro</i> and <i>in vivo</i> models for understanding of gene therapy related immune responses, strategies to improve safety and efficacy of next-generation gene therapies, and clinical site readiness for gene therapy and post-treatment monitoring. This year's summit also marked the launch of MDA's gene therapy support network - a national resource for patients and clinicians in the MDA care center network aimed at providing sites with the information and resources needed to deliver genetic medicines within our neuromuscular community. A series of recommendations around 8 topic areas including predicting immune responses, long-term follow up of treated individuals, and ethical considerations was derived from content presented at the meeting.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"1159-1175"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145998513","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}
引用次数: 0
Neurologists' decision-making in the management of generalised myasthenia gravis: Therapeutic inertia and treatment choices. 神经科医生在广泛性重症肌无力管理中的决策:治疗惰性和治疗选择。
IF 3.5 4区 医学
Journal of neuromuscular diseases Pub Date : 2026-09-01 Epub Date: 2026-02-04 DOI: 10.1177/22143602261420993
Gerardo Gutiérrez-Gutiérrez, Rocío Gómez-Ballesteros, Adrián Ares, Ramón Villaverde, Virginia Reyes, Thaís Armangué, Paola Díaz-Abós, Pablo Rebollo, Neus Canal, Luis Querol, Jorge Maurino, Elena Cortés-Vicente
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