Muscle & Nerve最新文献

{"title":"Impact of Sexuality in Patients With Motor Neuron Disease.","authors":"R Yolanda Morgado Linares, Íñigo Rojas-Marcos, Marco Mesa, Eva Martínez, Macarena Cabrera-Serrano, Carmen Paradas","doi":"10.1002/mus.70348","DOIUrl":"10.1002/mus.70348","url":null,"abstract":"<p><strong>Introduction: </strong>Sexuality is a relevant yet understudied aspect in people living with motor neuron disease (MND). This study aimed to assess whether sexuality in people with MND is influenced by motor, cognitive, behavioral, or mood disturbances, and to explore whether being sexually active impacts caregiver burden.</p><p><strong>Methods: </strong>We conducted a cross-sectional observational study involving participants with MND and their primary caregivers from three ALS multidisciplinary units in Seville, Spain. Data were collected between October 2018 and July 2021. Functional, cognitive, behavioral, and mood assessments were conducted. Sexuality was evaluated through sex-specific questionnaires. Caregiver burden was assessed using the Zarit Burden Interview.</p><p><strong>Results: </strong>Among 66 participants who completed the sexuality assessment, 42.9% reported sexual activity in the previous month. Of these, 70% had no sexual dysfunction, while 26.7% had moderate and 3.3% severe dysfunction. No correlation was found between sexual activity and motor function. Sexual activity was less frequent in participants with apathy (p = 0.026), depression (p = 0.021), and frontotemporal dementia (p = 0.013). Among sexually active patients, those with cognitive impairment-particularly memory dysfunction-had higher rates of orgasm difficulties (p = 0.019). No other clinical parameters were related to sexuality. Sexuality of participants with MND did not influence caregiver burden.</p><p><strong>Discussion: </strong>Sexuality in MND is more associated with cognitive and mood factors than with motor disability. Addressing sexuality in clinical practice may contribute to improving quality of life and should be integrated into the multidisciplinary care of MND patients.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"669-677"},"PeriodicalIF":2.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13471760/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148471917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Urinary Dysfunction in Myasthenic Syndromes: A Scoping Review of Clinical Features and Treatment-Related Associations.","authors":"Julia M Augustin, Lillith Horstkorte, Hellen Schmidt, Blanca G Sánchez Navarro, Avan Kader, Inga Koneczny, Holly M Nelson, Pratishtha P Wadnerkar, Rafael Meleka Hanna, Ayşe N Özdağ Acarlı, Piraye Oflazer, Atay Vural, Franz Blaes, Miriam L Fichtner","doi":"10.1002/mus.70337","DOIUrl":"10.1002/mus.70337","url":null,"abstract":"<p><p>Urinary dysfunction has been reported in association with myasthenic syndromes, including myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS), and congenital myasthenic syndromes (CMS), but evidence regarding its prevalence, clinical impact, pathophysiology, and management remains limited. This scoping review synthesizes the available evidence on urinary symptoms, diagnostic approaches, pathophysiological features, treatment-related associations, and sex-specific findings in these disorders. A literature search was conducted in PubMed, LIVIVO, Epistemonikos, and the Cochrane Library in accordance with PRISMA guidelines. Of 774 records identified, eight studies met the inclusion criteria, comprising two case reports, three case-control studies, one prospective study, and two retrospective observational studies. Seven studies addressed MG and one addressed LEMS; no eligible studies were identified for CMS. Reported urinary symptoms were predominantly storage lower urinary tract symptoms (LUTS), including urinary incontinence, urgency, nocturia, and increased frequency, whereas voiding and bladder-emptying abnormalities were described less consistently. Diagnostic approaches were heterogeneous and included questionnaires, clinical examination, urodynamic testing, imaging, and autonomic assessments. Proposed mechanisms remain uncertain, with limited evidence supporting contributions from pelvic floor weakness, autonomic dysfunction, and cholinesterase inhibitor exposure. Treatment-related associations were largely observational and most consistently implicated pyridostigmine in symptom worsening, while evidence for specific treatment of urinary symptoms was sparse. Sex-specific analyses were limited and did not identify consistent sex-related patterns. Current evidence indicates that urinary symptoms have been reported in myasthenic syndromes and have been associated with reduced quality of life in the included studies, but the available data remain insufficient to define prevalence, mechanisms, or optimal management.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"S97-S107"},"PeriodicalIF":2.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13599464/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148405033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment Preferences of Patients With Myasthenia Gravis: A Qualitative Study.","authors":"Meg Mendoza, Elena Wolff, Michael Chou, Vera Bril, Hans Katzberg, Ahmed Bayoumi, Carolina Barnett-Tapia","doi":"10.1002/mus.70241","DOIUrl":"10.1002/mus.70241","url":null,"abstract":"<p><strong>Introduction/aims: </strong>The burden of myasthenia gravis (MG) is often underestimated, and studies usually focus on the symptom burden. However, treatment-related adverse events also contribute to patients' burdens and affect their treatment decisions. Understanding the treatment preferences of people with MG will help inform patients, clinicians, and policy makers. We conducted a qualitative study to understand the most relevant factors that people with MG consider when making treatment decisions.</p><p><strong>Methods: </strong>Fifteen patients with a wide range of MG severity participated in semi-structured interviews. Interviews were recorded and transcripts were analyzed using line-by-line open coding to generate themes. We used these themes to identify the most relevant treatment characteristics for people living with MG.</p><p><strong>Results: </strong>Four themes were identified: MG symptoms, treatment side effects, treatment delivery preferences, and treatment goals. Double vision was the most bothersome symptom for 40% of patients, and 33% reported weight gain as the most bothersome side effect of treatment. Most patients preferred treatments in the form of pills (67%). The most frequently reported treatment goals were returning to normal or \"zero symptoms\" (40%), discontinuation of prednisone (40%), and a preference to take fewer pills (33%).</p><p><strong>Discussion: </strong>Our results underscore the importance of tailoring treatments to meet patient needs and preferences, emphasizing key treatment goals such as prednisone reduction, a preference for oral medications, and symptom resolution. We will incorporate these themes into a discrete choice experiment to gain a deeper understanding of how people with MG make treatment decisions when considering potential benefits and adverse events.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"S124-S131"},"PeriodicalIF":2.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13599467/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148352725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimization of the Cell-Based Assay Methodology to Study Degradation of Acetylcholine Receptors (Antigenic Modulation) by Antibodies From Myasthenia Gravis Patients.","authors":"Peng Du, Marina Mané-Damas, Fien M Verhamme, Mahan Moshir, Peter Ulrichts, Barbie Machiels, Mario Losen, Pilar Martinez-Martinez","doi":"10.1002/mus.70319","DOIUrl":"10.1002/mus.70319","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Degradation of cell-surface acetylcholine receptors (AChRs) by antigenic modulation is a key pathogenic mechanism of myasthenia gravis (MG) autoantibodies, yet standard assays primarily detect antibody binding rather than functional effects. We therefore aimed to establish a standardized assay to evaluate the functional effects of MG autoantibodies on AChR modulation.</p><p><strong>Methods: </strong>CN21 cells expressing adult and fetal-type AChR were used to measure the modulation capacity of AChR antibodies in vitro. In this cell-based assay, the remaining surface AChR levels were determined using iodine-125-conjugated α-bungarotoxin. Experimental variables including plate surface and coating, cell density, dexamethasone treatment, incubation time, and complement effect were systematically evaluated and optimized. The optimized assay was later tested and qualified using sera from AChR-MG patients and healthy individuals.</p><p><strong>Results: </strong>CellBIND coated 48-well plates were selected because of robust cell adhesion. An increased cell density resulted in increased baseline AChR expression levels without affecting the modulation capacity. Prolonged incubation of cells with AChR antibodies for 3 h resulted in higher sensitivity compared with 1 h. Heat inactivation of complement in serum samples did not affect antigenic modulation.</p><p><strong>Discussion: </strong>The optimized modulation assay showed strong sensitivity and specificity, and is a robust and reproducible method to quantify modulation capacity in the sera of individual AChR-MG patients. We encourage the use of this assay to characterize the relevance of modulating antibodies in clinical severity and treatment response in individual patients.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"S150-S158"},"PeriodicalIF":2.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13599448/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148369451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Millesi's Classification of Nerve Fibrosis Remains Underutilized in Modern Peripheral Nerve Research.","authors":"Johannes C Heinzel, Natalie Winter, Adrien Daigeler, Alexander Grimm, Jonas Kolbenschlag, Robert Schmidhammer, Sami Tuffaha, Henrik Lauer","doi":"10.1002/mus.70344","DOIUrl":"10.1002/mus.70344","url":null,"abstract":"<p><p>Peripheral nerve fibrosis is a major determinant of surgical outcome and functional recovery after nerve injury, yet standardized approaches to assess its extent remain scarce. Decades ago, Hanno Millesi introduced a comprehensive classification system that grades the degree of fibrosis according to the anatomical layers affected, ranging from paraneurial to endoneurial involvement. Despite its conceptual clarity and clinical relevance, this system remains largely underutilized in contemporary peripheral nerve research. Recent experimental models addressing perineural scarring and anti-fibrotic strategies rarely apply Millesi's classification, thereby limiting comparability and translation of findings. Here, we argue that greater integration of Millesi's classification could enhance experimental design, improve standardization, and guide the interpretation of preclinical and clinical studies on peripheral nerve regeneration. Renewed attention to this underutilized framework may bridge the gap between histological observations, experimental interventions, and the surgical decision-making process in peripheral nerve surgery.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"547-552"},"PeriodicalIF":2.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13471949/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148430560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mismatch Between the Distribution of Neuromuscular Specialists and Myasthenia Gravis Patients in the US Medicare Fee-for-Service Population.","authors":"Lauren Herrera, David Bruckman, Ikjae Lee, Jesse D Schold, Benjamin Claytor, Nicholas Silvestri, Yuebing Li, Michael K Hehir","doi":"10.1002/mus.70345","DOIUrl":"10.1002/mus.70345","url":null,"abstract":"<p><strong>Introduction/aims: </strong>There is a mismatch between clinical need and access to neurologists across the US. Myasthenia gravis (MG) incidence and prevalence are increasing, particularly in US patients older than 65 years, raising concern for access to neuromuscular specialists that represent only 4% of neurologists. We sought to compare the prevalence of MG patients over 65 years of age to the number of board-certified neuromuscular physicians (BCNMP) across the US.</p><p><strong>Methods: </strong>Utilizing Medicare fee-for-service Parts A/B coverage non-HMO claims data, MG cases were ascertained using a validated algorithm. Number of BCNMP per state was determined using American Board of Psychiatry and Neurology and American Board of Physical Medicine and Rehabilitation resources. MG prevalence, BCNMP number, and ratios of cases per BCNMP were calculated by state, census division and region for 2012-2013 and 2018-2019. Ratios between periods were tested using Poisson regression.</p><p><strong>Results: </strong>The number of MG cases increased from 29,038 in 2012-2013 to 35,691 in 2018-2019. BCNMP increased from 585 in 2012-2013 to 806 in 2018-2019. At the national level, the ratio of Medicare MG cases per BCNMP improved from 49.5 in 2012-2013 to 44.3 in 2018-2019. The south region had highest ratios at both timeframes, while the northeast had the lowest ratios. Six states had no BCNMP at both timeframes.</p><p><strong>Discussion: </strong>While the number of BCNMP has increased nationally, supply and demand may be unequally distributed. Regions across the US demonstrate disparate ratios of MG cases per BCNMP.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"714-719"},"PeriodicalIF":2.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13471957/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148592635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High-Resolution Ultrasound for Differentiation Between Leprosy-Associated Neuropathy and Vasculitic Peripheral Neuropathy: A Pilot Study.","authors":"Nan Hu, Jingwen Niu, Lin Chen, Min Qian, Mingsheng Liu","doi":"10.1002/mus.70353","DOIUrl":"10.1002/mus.70353","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Leprosy-associated neuropathy and vasculitic neuropathy (VN) share overlapping clinical features, making differentiation challenging in nonendemic regions. High-resolution ultrasound may aid in distinguishing these conditions, but comparative data are limited. This pilot study aimed to characterize and compare ultrasound findings in biopsy-confirmed leprosy-associated neuropathy and VN, and to identify distinctive sonographic features for early differential diagnosis.</p><p><strong>Methods: </strong>We retrospectively included 12 patients with biopsy-confirmed neuropathy (3 leprosy-associated, 6 systemic VN, 3 nonsystemic VN) from a prospectively maintained database at Peking Union Medical College Hospital (2020-2025). All had undergone standardized clinical assessments, nerve conduction studies, and high-resolution ultrasound of median, ulnar, tibial, fibular, and sural nerves, cervical roots, and brachial plexus. Cross-sectional areas (CSA) were measured at predetermined sites. Power Doppler assessed intraneural vascularization in enlarged segments.</p><p><strong>Results: </strong>In leprosy patients, nerve enlargement predominated proximal to entrapment sites (carpal tunnel, cubital tunnel/above-elbow, fibular head), with moderate-to-marked CSA increases. Intraneural power Doppler signals were detected in all enlarged segments (12/12, 100%). In VN patients, enlargement was mild-to-moderate, predominantly in nonentrapment regions (mid-forearm, upper arm), with less frequent vascularization (SVN: 25.0%; NSVN: 83.3%). Brachial plexus/cervical root enlargement was uncommon in both groups. Lower limb nerve enlargement occurred exclusively in leprosy.</p><p><strong>Discussion: </strong>Distinct ultrasound patterns may help distinguish leprosy-associated neuropathy from VN. Marked enlargement near entrapment sites with increased vascularization was more commonly observed in leprosy, while mild nonentrapment enlargement was more frequent in VN.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"678-684"},"PeriodicalIF":2.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13471966/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148549982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Follow-Up Studies of Nerve Ultrasound and Motor Conduction in Patients With Autoimmune Nodopathy.","authors":"Jingwen Niu, Qingyun Ding, Huihong Tian, Nan Hu, Liying Cui, Mingsheng Liu","doi":"10.1002/mus.70328","DOIUrl":"10.1002/mus.70328","url":null,"abstract":"<p><strong>Introduction/aims: </strong>This study aimed to investigate long-term ultrasound and electrophysiological follow-up findings and their associations with antibody (Ab) titers in patients with autoimmune nodopathy. Longitudinal data correlating imaging, electrophysiological changes, and Ab dynamics remain scarce.</p><p><strong>Methods: </strong>A total of 16 patients with autoimmune nodopathy were prospectively recruited between August 2016 and July 2025. Patients underwent follow-up clinical, electrophysiological, and ultrasound assessments at intervals of approximately 6-12 months. Bilateral nerve ultrasound was performed on the median nerve, ulnar nerve, and brachial plexus in all patients, and nerve conduction studies (NCS) were performed concurrently. The median follow-up duration was 13.5 months.</p><p><strong>Results: </strong>Cross-sectional area (CSA) changes were significantly associated with Ab titer changes (p = 0.010). The CSA changes were not associated with those of motor conduction velocity (MCV) (p = 0.171). No significant associations were observed between MCV changes and Ab titer changes (p = 0.853). Five patients exhibited a reduction in nerve CSA: four of these converted to seronegative status, and one showed a decrease in Ab titer during follow-up. Among the six patients with increased nerve CSA, five had unchanged or higher Ab titers, while the remaining patient was seronegative at follow-up. The changes in CSA and Ab titer were consistent with one another in individual patients throughout follow-up.</p><p><strong>Discussions: </strong>Changes in nerve CSA were closely associated with those of Ab titers, even during long-term follow-up of individual patients. These findings suggest that nerve ultrasound may serve as a supplementary biomarker for disease activity in patients with autoimmune nodopathy.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"636-643"},"PeriodicalIF":2.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13471889/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148412517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fat-Fraction Quantification Using Three-Point Dixon Technique in Duchenne Muscular Dystrophy and Its Correlation With Clinical Progression and Genotypic Characteristics: A Single Centre One-Year Prospective Study.","authors":"Manisha Mohanty, Deepak Menon, Seena Vengalil, Saraswati Nashi, Manoj Kumar, Sanjay Kumar Verma, Keerthi Priya, Ravi Kiran, V S Binu, Jitender Saini, Atchayaram Nalini","doi":"10.1002/mus.70334","DOIUrl":"10.1002/mus.70334","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Muscle fat fraction (MFF) quantification using the Dixon magnetic resonance imaging (MRI) technique is an emerging objective, non-invasive biomarker in Duchenne muscular dystrophy (DMD). This study aimed to evaluate the relationship between MFF and disease progression, specifically its correlation with functional decline and genotypic characteristics.</p><p><strong>Methods: </strong>In this single-center prospective observational study, genetically confirmed, independently ambulant boys with DMD underwent MFF quantification of pelvic and thigh muscles. Functional measures including Medical Research Council (MRC) sum score, North Star Ambulatory Assessment (NSAA), and six-minute walk test (6MWT) were assessed at baseline, 6, and 12 months.</p><p><strong>Results: </strong>Forty boys (median age 8 years) were included. Highest mean MFF was observed in gluteal muscles (51.74% ± 23.26 right; 50.29% ± 24.07 left), while hamstrings showed the lowest. MFF demonstrated strong inverse correlations with all functional measures across most muscle groups at all time points. Baseline quadriceps MFF showed the strongest correlation with rate of decline of 6MWT over 1 year (r = 0.668 (CI 0.450, 0.811) and r = 0.564 (CI 0.307, 0.745) for right and left respectively). Adductor MFF was significantly higher in proximal versus distal variants (p = 0.049 and p = 0.037).</p><p><strong>Discussion: </strong>Baseline MFF, particularly in quadriceps, predicts functional decline in ambulatory DMD. Genotype-specific adductor involvement suggests novel, variant-specific spatial differences in muscle involvement. Longitudinal studies integrating genotype-phenotype analyses could validate MFF as a biomarker for clinical trials.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"616-622"},"PeriodicalIF":2.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13471964/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148382497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Muscle Strength, Balance, and Indoor Mobility in Oculopharyngeal Muscular Dystrophy: An Exploratory Canadian Multicenter Study.","authors":"Nicolas Bélair, Jean-Denis Brisson, Bernard Brais, Xavier Rodrigue, Hanns Lochmüller, Luc J Hébert, Jessica MacGregor, Brenda Dennison, Isabelle Lessard, Isabelle Côté, Elise Duchesne, Cynthia Gagnon","doi":"10.1002/mus.70343","DOIUrl":"10.1002/mus.70343","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Oculopharyngeal muscular dystrophy (OPMD) is a neuromuscular disease presenting with dysphagia, ptosis, and proximal weakness. Muscle strength and indoor mobility capacity have rarely been studied using standardized clinical outcome assessments (COAs). The objectives of this study were to (1) document muscle strength, balance, and indoor mobility, and (2) explore factors contributing to indoor mobility limitations.</p><p><strong>Methods: </strong>This cross-sectional study included 113 participants (mean age = 61.8 years) from four Canadian neuromuscular disease clinics (Saguenay, Quebec, Montreal, Ottawa). The COAs included upper and lower limb quantified muscle testing, Activities Balance and Confidence Scale, BERG Balance Scale, and for indoor mobility the 10-m Walk Test at self-selected (10mWTs-s) and maximal speed (10mWTm), 30-s Sit-to-Stand test (30s-STS), and 10-step stair test. Multiple linear regression models using backward selection were used to explore factors associated with each indoor mobility COA.</p><p><strong>Results: </strong>Muscle strength in percentage of age- and sex-matched reference values ranged from 41.4% to 81.4%, hip flexors being the most severely impaired muscle group. The 10mWTs-s, 10mWTm, 30s-STS and 10-step stair test had percentages of reference values ranging from 44.9% to 83.3%. Balance, balance confidence, and lower limb muscle strength were found to be significant factors for all indoor mobility COAs. All models explained between 57.4% and 79.9% of the variance.</p><p><strong>Discussion: </strong>This study provides clinically relevant outcome measures for assessing mobility in OPMD and identifies key factors that should be targeted in rehabilitation. These findings may also inform the selection of outcomes for future interventional studies.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"656-668"},"PeriodicalIF":2.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13472016/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148430600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}