Journal of neuromuscular diseases最新文献

{"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}

{"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 (³¹P MRS). Here, we investigated whether ³¹P 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 ³¹P 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}

{"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}

{"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}

{"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}

{"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_{(1, 39.6)} = 151.0, p < .001), <i>segments</i> (F_{(6, 138.3)} = 23.3, p < .001), <i>control type</i> (F_{(2, 33.0)} = 6.3, p = .005), and interactions <i>condition segment</i> (F_{(6, 138.3)} = 23.3, p < .001) and <i>condition control type</i> (F_{(2, 33.0)} = 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}

{"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}

{"title":"Neurologists' decision-making in the management of generalised myasthenia gravis: Therapeutic inertia and treatment choices.","authors":"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","doi":"10.1177/22143602261420993","DOIUrl":"10.1177/22143602261420993","url":null,"abstract":"<p><p>The evolving landscape of generalised myasthenia gravis (gMG) treatment with new targeted immunotherapy options presents challenges for neurologists and potentially leads to therapeutic inertia (TI), the failure to initiate or intensify treatment when therapeutic goals are not met. This study aimed to assess neurologists' therapeutic decision-making process in gMG and its influencing factors. A cross-sectional, web-based study was conducted, involving 149 neurologists (mean age [standard deviation]: 39.0 [9.4] years; 54.4% male; median MG experience [interquartile range]: 7 [3-15] years). Participants responded to 8 simulated case scenarios, 7 of which assessed TI. Overall, 79.9% of neurologists (n = 119/149) exhibited TI in at least 2 of the 7 scenarios. Multivariate analysis revealed that lower organisational support (odd ratio [OR] = 0.308, 95%CI:0.109-0.870, <i>p</i> = 0.0262) and greater reluctance to adopt new treatments (OR = 0.015, 95%CI:0.001-0.739, <i>p</i> = 0.0347) were significant predictors of TI. Understanding these factors is crucial for optimising gMG treatment decisions, underscoring the importance of updated guidelines and continued professional education.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"1039-1048"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146118761","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":"Between myopathy and mortality: Challenges in the diagnosis of <i>PLOD1</i>-related kyphoscoliotic Ehlers-Danlos syndrome.","authors":"Katharina Vill, Theresa Brunet, Melanie Brugger, Matias Wagner, Matthias Baumann, Ulrich Schatz, Astrid Pechmann, Iris Hannibal, Moritz Tacke, Cecilia Giunta, Walter Wohlgemuth, Moritz Wildgruber, Wolfgang Müller-Felber, Astrid Blaschek, Marianne Rohrbach, Veronika Huf","doi":"10.1177/22143602261457531","DOIUrl":"10.1177/22143602261457531","url":null,"abstract":"<p><p>ObjectivePLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by generalized joint laxity, severe congenital hypotonia, progressive kyphoscoliosis, hyperextensible and easily bruised skin, ocular abnormalities, and significant vascular complications.MethodsWe report on nine patients from seven families, eight of them carrying the common homozygous duplication of exons 10-16 in <i>PLOD1</i>. Longitudinal clinical assessments included muscle ultrasound (n=6) and vascular ultrasound (n=4). Genetic diagnostics varied, with most patients ultimately undergoing trio exome or genome sequencing. Urine pyridinoline analysis was performed in seven of nine patients. A literature review and age-stratified recalculation of vascular incidence, including our cohort, were conducted.ResultsDiagnosis was challenging in five families, as the exon 10-16 duplication often escaped detection due to its high allele frequency. Seven patients were initially diagnosed with congenital myopathy. Muscle ultrasound revealed abnormalities in five of six sonographically examined cases. Severe vascular events included neonatal intracranial hemorrhage, fatal aortic aneurysm rupture at the age of 13 years, multiple aneurysms/dissections (ages 14-19 years), and mesenteric dissection at the age of 10 years. Four younger patients (aged 3-9 years have had no vascular complications to date. Urine pyridinoline analysis was abnormal in all tested cases.Discussion<i>PLOD1</i>-related kEDS often presents with a phenotype of congenital myopathy, complicating genetic diagnosis and potentially leading to underdiagnosis - especially in cases where the common <i>PLOD1</i> duplication may be missed by strict frequency filters in exome or genome sequencing data. Literature and our data indicate a vascular event incidence from childhood age of ∼25%.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261457531"},"PeriodicalIF":3.5,"publicationDate":"2026-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13526180/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148850819","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":"Total body and appendicular lean mass by dual-energy X-ray absorptiometry are highly associated with muscle function and bone mineral density in Becker muscular dystrophy.","authors":"Rana Halloun, Stefan Jackowski, Maya Scharke, Utkarsh J Dang, Fahd Alshammri, Jinhui Ma, Ken Gaither, Thomas Fuerst, Hugh J McMillan, Kerry Siminoski, James MacDougall, Joanne Donovan, Leanne M Ward","doi":"10.1177/22143602261476364","DOIUrl":"10.1177/22143602261476364","url":null,"abstract":"<p><p>IntroductionBecker muscular dystrophy (Becker) is an X-linked disorder caused by decreased or dysfunctional dystrophin. Data on Dual-energy X-ray absorptiometry (DXA)-derived body composition and the skeletal phenotype are limited. We evaluated associations between DXA-derived height-adjusted body composition and motor function and characterized areal bone mineral density (aBMD) in adolescents and adults with Becker.MethodsIn a cross-sectional, multinational study, ambulatory steroid-naïve participants underwent DXA scans to assess height-adjusted total and appendicular body composition parameters and aBMD at the lumbar spine, total hip, and total body (TB). Motor assessments included the 10-meter walk/run, time-to-rise, North Star Ambulatory Assessment, and Hand-Grip Strength.ResultsTwenty-eight adolescents, median age 15.0 years, interquartile range [IQR] 14.0-16.0, and 38 adults, 28.5 years, IQR 24.3-37.8, were included. Greater TB and lower limb (LL) lean mass indices (LMI) were associated with better motor function, whereas TB and LL fat mass indices (FMI) were negatively associated, with models explaining 20-39% of variance in adolescents and 58-75% in adults. Higher TB-LMI and upper-limb-LMI were associated with greater Hand-Grip strength. In both age groups, the median total hip aBMD and TB z-scores were significantly below the healthy mean, with greatest deficits at the total hip, whereas lumbar spine z-scores did not differ. TB-LMI and LL-LMI were positively associated with total hip aBMD z-scores.ConclusionDXA-derived height-adjusted lean mass is a complementary marker of motor function in Becker. Total hip aBMD appeared to be particularly affected in ambulatory individuals, suggesting it may reflect the underlying myopathy.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602261476364"},"PeriodicalIF":3.5,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13525111/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840404","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}