Muscle & Nerve最新文献

{"title":"Serum Neurofilament Light Chain and GFAP in Amyotrophic Lateral Sclerosis on a Commercial ECLIA Platform.","authors":"Nicholas S Streicher","doi":"10.1002/mus.70397","DOIUrl":"10.1002/mus.70397","url":null,"abstract":"<p><strong>Introduction/aims: </strong>In amyotrophic lateral sclerosis (ALS), SIMOA-based studies show that baseline serum neurofilament light chain (NfL) predicts the revised ALS Functional Rating Scale (ALSFRS-R) decline rate and survival. The Roche Elecsys electrochemiluminescence immunoassay (ECLIA) reports values approximately six-fold lower; cross-platform comparison confirms comparable performance, but serial clinical-practice data remain limited. We assessed whether ECLIA NfL correlates with the ALSFRS-R decline rate under the sampling conditions of clinical practice, and whether GFAP or S-100B adds prognostic or disease-specific information.</p><p><strong>Methods: </strong>We retrospectively analyzed 58 patients with medical-record-confirmed ALS at an academic center (2022-2026). Serum NfL, GFAP, and S-100B were measured on the Roche Elecsys ECLIA. The NfL-ALSFRS-R correlation was assessed within matching windows; serial NfL was examined in patients with repeat draws.</p><p><strong>Results: </strong>First-per-patient NfL median was 7.06 pg/mL (IQR 4.06-17.30). NfL correlated strongly with the ALSFRS-R decline rate (Spearman r = 0.704, n = 31; r = 0.809 within 90 days, n = 17; both p < 0.0001). Fast progressors had 3.7-fold higher mean NfL than slow progressors (17.10 vs. 4.64 pg/mL). NfL showed no correlation with King's clinical stage (r = 0.00). GFAP correlated with age but not with progression rate or disease duration; S-100B showed no association with progression.</p><p><strong>Discussion: </strong>Serum NfL on a commercial ECLIA platform retained its strong correlation with progression rate despite unstructured sampling, replicating SIMOA-based findings at platform-specific values. NfL tracked the rate of decline rather than the accumulated disease state; GFAP and S-100B added no prognostic or disease-specific information.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1398-1405"},"PeriodicalIF":2.9,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13644906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148892028","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":"Hoover's Test Revisited.","authors":"Masahiro Sonoo","doi":"10.1002/mus.70410","DOIUrl":"10.1002/mus.70410","url":null,"abstract":"<p><p>Hoover's test (Hoover's sign) is a widely recognized sign for diagnosing functional weakness of the lower limb. However, its utility may not have received a fair evaluation. This article highlights several points related to the test. First, it is composed of two subtests: elevation of the normal leg and that of the paretic leg. Both have diagnostic value, but only the former is often mentioned. Second, the popular method of evaluating the pressure felt by the examiner's hand has a limitation. I here propose a new modified maneuver exerting downward force to the lifted leg as well as upward force to the unlifted leg, and then observing the presence or absence of movement in the unlifted leg. This corresponds to the break test in manual muscle testing and is more objective than subjective evaluation of the pressure. Maneuvers that include voluntary downward pressing of the unlifted leg just prior to the main test are not ideal since these will direct the attention of the patient toward the unlifted leg. Third, a new theory of the underlying mechanism of Hoover's test based on synergistic movements is presented. Fourth, the clinical utility of the test and its various methods is discussed considering the purposes of the test. The original method in the supine position is suited to the diagnostic purpose. Some authors have stated that Hoover's test often gives inconclusive results and lacks reliability. However, this test is expected to be sufficiently reliable if the new method is employed.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1341-1347"},"PeriodicalIF":2.9,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148977335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of Neuromuscular Electrical Stimulation in Mitigating Muscle Mass Loss: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.","authors":"Yang Jiang, Yemei Gao, Renxian Wang, Bowen Liu","doi":"10.1002/mus.70396","DOIUrl":"10.1002/mus.70396","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Evidence for the stand-alone effect of neuromuscular electrical stimulation (NMES) on muscle mass in adults with sarcopenia or secondary muscle loss remains fragmented. This systematic review and meta-analysis aimed to quantify this effect and explore whether population, stimulation parameters, and assessment methods modified treatment effects.</p><p><strong>Methods: </strong>Six electronic databases, including PubMed, Embase, and the Cochrane Library, were systematically searched for randomized controlled trials (RCTs) published between January 2000 and June 2025. Pooled effect sizes (standardized mean difference, SMD) were calculated using random-effects models (PROSPERO: CRD420251114043).</p><p><strong>Results: </strong>Eighteen RCTs involving 676 participants yielded 19 independent effect estimates. NMES improved muscle mass compared with control conditions (SMD = 0.66, 95% CI = 0.30-1.02), with substantial heterogeneity. Leave-one-out sensitivity analyses did not alter the direction of effect. Subgroup analyses suggested differences by population and assessment method: community-dwelling older adults showed the most consistent benefit, whereas hemodialysis patients showed no clear improvement. CT/DXA-based measures yielded larger estimates than ultrasound-based regional measures or indirect methods. Meta-regression suggested a potential positive association between pulse width and effect size, whereas stimulation site and intervention duration were not clearly associated with treatment effects.</p><p><strong>Discussion: </strong>Low-certainty evidence suggests that NMES may improve muscle mass in selected adults with sarcopenia or secondary muscle loss. Future trials should use standardized NMES protocols, reliable muscle-mass assessments, and clinically meaningful outcomes.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1387-1397"},"PeriodicalIF":2.9,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148891944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Postural Torticollis and Early-Onset Scoliosis in Infants With SMA Identified Through Newborn Screening: Single Institution Experience.","authors":"Meghan Moore Burk, Carolyn Kelley, Sara Thinger, Hattie Foster, Kelli Johnson, Anne Stratton, Melissa Wright, Melissa Gibbons, Susan Apkon, Michele L Yang","doi":"10.1002/mus.70383","DOIUrl":"10.1002/mus.70383","url":null,"abstract":"<p><strong>Introduction/aims: </strong>In the era of disease modifying treatments (DMT), early-onset scoliosis may occur despite administration to infants with spinal muscular atrophy (SMA). We hypothesize that postural torticollis (Ptort), defined as tilt and/or rotation of the head to the same side due to an assumed asymmetry in cervical muscle strength, could be playing a role in early-onset scoliosis (EOS). The aim of this study was to assess the frequency of Ptort and EOS in infants with SMA.</p><p><strong>Methods: </strong>Clinical data was collected retrospectively on infants with SMA identified by newborn screening (NBS) seen at a single institution, including SMN2 copy number; presence of torticollis, scoliosis, or both; and the date at which the patient received DMT. When available, spinal x-ray results and Cobb angles were recorded.</p><p><strong>Results: </strong>Twenty-three patients with 2-5 copies of SMN2 were included. Twenty (87%) were treated with DMT at a median age of 23.5 days of life (range 8-233 days). High prevalences of Ptort (52%) and EOS (30.5%) were reported. Four infants (17.4%) were noted to have Ptort preceding the development of EOS.</p><p><strong>Discussion: </strong>Early identification of Ptort and vigilance for the development of scoliosis are warranted even in treated infants. Further longitudinal studies are needed to evaluate the factors that are associated with this clinical observation.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1348-1357"},"PeriodicalIF":2.9,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148851027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early-Onset Wild-Type Transthyretin Amyloidosis Polyneuropathy.","authors":"Chafic Karam, Kaylee Baker, Sami Khella, Brian Drachman, Pranav Chandrashekar, MacLean Nasrallah, Shunsuke Koga, Janice Pieretti","doi":"10.1002/mus.70387","DOIUrl":"10.1002/mus.70387","url":null,"abstract":"","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1471-1475"},"PeriodicalIF":2.9,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13644886/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148813595","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":"CIDP in Association With CMT: The Importance of Repeated History Taking and Clinical Examination in the Monitoring of Genetic Neuropathy.","authors":"Yusuf A Rajabally, Young Gi Min","doi":"10.1002/mus.70412","DOIUrl":"10.1002/mus.70412","url":null,"abstract":"","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1309-1311"},"PeriodicalIF":2.9,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148990477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Online Crowdfunding Campaigns for People Living With ALS Demonstrate Financial Burden and Unmet Needs.","authors":"Astrid Grouls, Peter A Ubel, Minh Nguyen, Nikhita Pathapati, Steven Doerstling, Caroline E Sloan","doi":"10.1002/mus.70395","DOIUrl":"10.1002/mus.70395","url":null,"abstract":"<p><strong>Introduction/aims: </strong>People living with amyotrophic lateral sclerosis (ALS; pALS) have extensive care needs, from wheelchairs to feeding tubes to caregiving support. The financial impact of these needs on pALS and their caregivers (cALS) has not been fully explored. We aimed to explore the types of expenses for which pALS and cALS crowdfund, and the financial circumstances that lead them to resort to crowdfunding.</p><p><strong>Methods: </strong>We randomly selected 320 ALS-related crowdfunding campaigns posted on the GoFundMe platform from 2010-2020. We conducted a summative content analysis to categorize the expenses for which campaigns requested money and descriptions of financial burden.</p><p><strong>Results: </strong>We included 266 campaigns. Most campaigns were written by people who were not the pALS or cALS, such as children or coworkers (85.3%). Most campaigns fundraised for medication and treatment costs (21.4%), equipment (25.2%), accessibility needs for home (24.0%), and transportation (19.5%), and in-home caregiving services (18%). Multiple campaigns (22.9%) requested assistance with nonmedical expenses ranging from rent and utilities to personal travel and hobby goals. Many campaign writers (47.7%) described financial burden related to the pALS' diagnosis, including medical debt (4.5%) and job loss of the pALS (30.5%) and/or cALS (6.8%).</p><p><strong>Discussion: </strong>Our analysis of ALS-related crowdfunding campaigns highlights the breadth of medical and nonmedical care needs and quality of life goals for which people request additional financial support throughout the disease course. These findings provide important insights for ALS care teams into the expenses of pALS.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1415-1420"},"PeriodicalIF":2.9,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13644883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148906594","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 Diagnosing Severity of Traumatic Peripheral Nerve Injuries-in-Continuity: A Systematic Review, Meta-Analysis of Individual Participants' Data, and Illustrative Patient Series.","authors":"Jackson M Cathey, Christian F Zirbes, Kevin M Klifto, Daniel Y Joh, Caroline M Wu, Robert J French, Eliana B Saltzman, Neill Y Li","doi":"10.1002/mus.70393","DOIUrl":"10.1002/mus.70393","url":null,"abstract":"<p><strong>Introduction/aims: </strong>High-resolution ultrasound (HRUS) may help evaluate traumatic peripheral nerve injuries (PNIs), but the sonographic features that distinguish low- from high-grade injury remain poorly defined. This study evaluated the utility of HRUS for differentiating injury severity by synthesizing data from the literature and applying these findings to an illustrative institutional patient series.</p><p><strong>Methods: </strong>We queried for studies reporting HRUS findings in iatrogenic/traumatic PNI resulting in neurapraxia or axonotmesis. Individual participant data (IPD) were extracted and synthesized. Meta-analysis was performed via a 1-stage IPD approach to estimate associations between HRUS findings and injury grade. Findings from the review were then applied to an illustrative institutional series of five patients who underwent HRUS during initial clinical evaluation.</p><p><strong>Results: </strong>The systematic review included 74 patients from 24 studies. Focal nerve enlargement, hypoechoic nerve perimeter, and disruption of fascicular echotexture were observed in 82.4%, 63.5%, and 45.9% of patients, respectively. Fascicular echotexture disruption was present in 73.8% of high-grade injuries compared to 9.4% of low-grade injuries. Meta-analysis revealed fascicular echotexture disruption was independently associated with high-grade injury (aOR = 21.6; 95% CI [4.02-116], p = 0.002). Patient series findings were similar; one patient had preserved fascicular architecture and recovered under conservative management (low-grade PNI), while four patients had disrupted fascicular echotexture and were confirmed intraoperatively to have high-grade axonotmesis.</p><p><strong>Discussion: </strong>Traumatic PNIs demonstrated categorizable HRUS findings that may serve as a useful adjunct in multimodal assessment of injury severity. Disruption of fascicular echotexture appeared most associated with high-grade lesions-in-continuity, although prospective validation with standardized imaging protocols is needed.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1406-1414"},"PeriodicalIF":2.9,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148906542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Whole Body Phase Angle as a Promising Marker of Disease Severity in Facioscapulohumeral Muscular Dystrophy.","authors":"Oscar Crisafulli, Renato Baptista, Andi Nuredini, Matteo Fortunati, Luca Grattarola, Rossella Tupler, Anna Odone, Giuseppe D'Antona","doi":"10.1002/mus.70391","DOIUrl":"10.1002/mus.70391","url":null,"abstract":"<p><strong>Introduction/aims: </strong>To investigate its potential role as a marker of disease severity in facioscapulohumeral dystrophy (FSHD), this study examined the association between whole-body phase angle (PhA) and clinically assessed severity in FSHD patients.</p><p><strong>Methods: </strong>Patients were evaluated for PhA using bioelectrical impedance analysis (BIA) and for disease severity using the FSHD clinical score. In a subgroup, physical activity level (PAL) was assessed using a questionnaire. Pearson correlations were performed in the total cohort and PAL-assessed subgroup, stratified by sex and clinical phenotype (category A and non-A) according to the Comprehensive Clinical Evaluation Form. Multivariate regression analyses were conducted adjusting for age, body mass index, and PAL. Due to the small sample, correlation was not performed in PAL-assessed non-A patients, while multivariate regression was not performed in non-A patients and PAL-assessed stratified subgroups.</p><p><strong>Results: </strong>Seventy-two patients (mean age 39.94 ± 17.52 years; 27 females and 45 males; 58 category A and 14 non-A) were enrolled. The PAL-assessed subgroup comprised 38 patients (mean age 41.39 ± 14.98 years; 16 females and 22 males; 31 category A and 7 non-A). Pearson analyses revealed that PhA was inversely associated with clinical score in all groups (r -0.63 to -0.84, p 0.02 to < 0.001). Multivariate regression confirmed PhA as the sole independent predictor across all groups (β = -0.64 to -0.93, all p < 0.001).</p><p><strong>Discussion: </strong>These results support the potential role of PhA as a marker of disease severity in FSHD. Longitudinal studies are warranted to determine its sensitivity for monitoring disease progression over time.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1443-1449"},"PeriodicalIF":2.9,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13644891/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148865925","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":"Factors Affecting Disease Progression, Survival, and Caregiver Burden in United States Veterans at a Multidisciplinary Veterans Affairs ALS Center.","authors":"Carolyn W Zhu, Genevieve Curtis, Jeffrey Joseph, Jill M Wecht, Marinella D Galea, Noam Y Harel","doi":"10.1002/mus.70385","DOIUrl":"10.1002/mus.70385","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Though studies of Veterans with ALS have reported survival rates, scant literature reports longitudinal symptom progression in Veterans using the ALS Functional Rating Scale-revised (ALSFRS-R). In the absence of an existing national database tracking disease progression in Veterans, we sought to use local medical records to characterize a cohort of Veterans with ALS treated at our VA ALS clinic.</p><p><strong>Methods: </strong>We examined demographic and clinical factors of 216 Veterans with ALS treated at the James J. Peters VA Medical Center (2012-2025) including race, ethnicity, region of symptom onset, and medication use as predictors of diagnostic delay, functional decline (ALS Functional Rating Scale-Revised (ALSFRS-R)), survival, and caregiver burden (Zarit Caregiver Burden Interview). Joint linear mixed modeling estimated longitudinal functional trajectories and survival simultaneously.</p><p><strong>Results: </strong>The cohort was 96.8% male and 74.5% White. Median age at symptom onset was 69.3 years. Mean baseline ALSFRS-R was 30.7. Median survival from symptom onset was 4.4 years. Median age at symptom onset was younger for Black (60.8 years) and Hispanic (62.5 years) Veterans than Whites (70.1 years). Blacks had faster initial ALSFRS-R progression than Whites (mean 1.9 vs. 0.9 points per month). Blacks and Hispanics had 2.8-fold and 2.3-fold higher adjusted mortality hazard than Whites, respectively. Forty-nine percent of caregivers reported high caregiver burden at first assessment, rising to 66.2% at subsequent assessments.</p><p><strong>Discussion: </strong>Racial and ethnic disparities in ALS progression and survival are pronounced in this single-site Veteran cohort. Standardized ALS-specific data collection across the VHA is needed to enable system-wide analyses.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1358-1367"},"PeriodicalIF":2.9,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148851070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}