Muscle & NervePub Date : 2025-02-01Epub Date: 2024-11-27DOI: 10.1002/mus.28303
Daniel Mosgaard Sørensen, Hatice Tankisi
{"title":"Reliability of MScanFit Motor Unit Number Estimation in the Trapezius Muscle.","authors":"Daniel Mosgaard Sørensen, Hatice Tankisi","doi":"10.1002/mus.28303","DOIUrl":"10.1002/mus.28303","url":null,"abstract":"<p><strong>Introduction/aims: </strong>MScanFit motor unit number estimation (MUNE) is the most recent MUNE method which has shown promising results in extremity muscles, but it has not been applied to bulbar muscles. Bulbar muscles are particularly important in the diagnosis of amyotrophic lateral sclerosis (ALS). This study aimed to investigate the feasibility and reliability of MScanFit MUNE in the accessory nerve and trapezius muscles.</p><p><strong>Methods: </strong>A total of twenty healthy participants were examined twice within 1-2 weeks. We extracted the MScanFit MUNE and size parameter, and compound muscle action potential (CMAP) amplitude values. The reliability of these parameters was assessed using the intra-rater coefficient of variation (CoV), intraclass correlation coefficient (ICC), and Bland-Altman plots. We also correlated MUNE values with CMAP amplitudes using correlation coefficients.</p><p><strong>Results: </strong>Mean MUNE values (Day 1 = 132.1 and Day 2 = 137.4), CMAP amplitudes (Day 1 = 9.71 mV and Day 2 = 10.10 mV) and size parameters did not differ between the two sessions (p > 0.05). CoV showed excellent reliability for MUNE values, size parameters, and CMAP amplitudes (CoV < 7%) whereas ICCs showed moderate reliability for MUNE values (ICC = 0.619), poor to moderate reliability for size parameters (between 0.393 and 0.689), and good reliability for CMAP amplitude (ICC = 0.864) There was no correlation between MUNE values and CMAP amplitudes.</p><p><strong>Discussion: </strong>MScanFit MUNE is applicable and mostly reliable in the trapezius muscle. Further studies in patients are needed to investigate the sensitivity of MScanFit in this muscle in detecting motor unit loss, particularly in ALS.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"166-170"},"PeriodicalIF":2.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142730881","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}
Muscle & NervePub Date : 2025-02-01Epub Date: 2024-11-29DOI: 10.1002/mus.28306
Frank Diaz, John S Thornton, Stephen S Wastling, Abeer Asaab, Jasper M Morrow, Nick Zafeiropoulos, Catherine Bresee, Peggy Allred, Pablo Avalos, Richard A Lewis, Robert H Baloh, Clive N Svendsen
{"title":"Longitudinal Quantitative MRI Provides Responsive Outcome Measures for Early and Late Muscle Changes in ALS.","authors":"Frank Diaz, John S Thornton, Stephen S Wastling, Abeer Asaab, Jasper M Morrow, Nick Zafeiropoulos, Catherine Bresee, Peggy Allred, Pablo Avalos, Richard A Lewis, Robert H Baloh, Clive N Svendsen","doi":"10.1002/mus.28306","DOIUrl":"10.1002/mus.28306","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Studies have demonstrated the potential of muscle MRIs to measure disease progression in ALS. However, the responsiveness and utility of quantitative muscle MRIs in an ALS clinical trial remain unknown. This study aimed to determine the responsiveness of quantitative muscle MRIs to measure disease progression in ALS.</p><p><strong>Methods: </strong>Longitudinal quantitative muscle MRIs were obtained in an ALS study that delivered human neural progenitor cells to the spinal cord (NCT02943850). Participants underwent MRIs at baseline, 1, 3, 6, 9, and 12 months. MRI measures included fat fraction (ff), water T2 (T <sub>2m</sub>), cross-sectional area (CSA), and remaining muscle area (RMA). Non-MRI measures included strength via Accurate Test of Limb Isometric Strength (ATLIS) and the ALSFRS-R. Standardized response means (SRM) were calculated at 1, 3, 6, and 12 months.</p><p><strong>Results: </strong>Significant increases in muscle FF and decreases in CSA and RMA were seen as early as 1 month from baseline. At 6 months, the most responsive measures were muscle FF (SRM<sub>thigh</sub> = 1.85, SRM<sub>calf</sub> = 1.39), T <sub>2m</sub> (SRM<sub>thigh</sub> = 1.2, SRM<sub>calf</sub> = 1.71), CSA (SRM<sub>thigh</sub> = -1.58, SRM<sub>calf</sub> = -1.14), RMA (SRM<sub>thigh</sub> = -1.77, SRM<sub>calf</sub> = -1.28), and strength tested via ATLIS (SRM<sub>knee extension</sub> = -1.79, SRM<sub>knee flexion</sub> = -1.3). The ALSFRS-R was the least responsive at 6 months (SRM = -0.85). Muscle FF and T <sub>2m</sub> correlated with ALSFRS-R leg subscores and MRI measures demonstrated varying degrees of correlation with strength.</p><p><strong>Discussion: </strong>High responsiveness and low variability make quantitative muscle MRI a novel and complementary outcome measure for ALS clinical trials.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"171-182"},"PeriodicalIF":2.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142751208","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}
Muscle & NervePub Date : 2025-02-01Epub Date: 2024-12-09DOI: 10.1002/mus.28309
Chiara Panicucci, Sara Casalini, Alessia Angelelli, Noemi Brolatti, Marina Pedemonte, Giuseppa Patti, Mohamad Maghnie, Claudio Bruno, Natascia Di Iorgi
{"title":"Bone Health Determinants in Ambulant Prepubertal Boys With Duchenne Muscular Dystrophy Treated With Deflazacort: Findings From a 3-Year Study.","authors":"Chiara Panicucci, Sara Casalini, Alessia Angelelli, Noemi Brolatti, Marina Pedemonte, Giuseppa Patti, Mohamad Maghnie, Claudio Bruno, Natascia Di Iorgi","doi":"10.1002/mus.28309","DOIUrl":"10.1002/mus.28309","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Duchenne muscular dystrophy (DMD) is complicated by bone fragility. This study aimed to elucidate changes in bone mineral density (BMD) and body composition over time and to explore associations with adiposity measures in DMD.</p><p><strong>Methods: </strong>A three-year follow-up analysis was performed of total body (TB) and lumbar spine (LS) dual-energy x-ray absorptiometry (DXA) measurements, anthropometric measures, Tanner stage and bone turnover biomarkers assessments, and the incidence of fragility fractures in 26 ambulant prepubertal DMD patients treated with deflazacort (DFZ).</p><p><strong>Results: </strong>Age at baseline was 7.7 years (interquartile range: 6-9.2). The TB BMD Z-score declined over time and was negatively related to the TB fat mass percentage and fat mass index (p < 0.05), but not to body mass index (BMI) standard deviation score (SDS). In contrast LS bone mineral apparent density (BMAD) Z-score remained stable and normal. The cumulative incidence of fragility fractures was 19.2%; DMD boys with fractures displayed a 1.5-fold higher decline of TB BMD Z-score/year (p < 0.05) and a worse adiposity profile compared to fracture-free patients. No difference was found in DFZ dose or duration between the two groups.</p><p><strong>Discussion: </strong>We observed a high incidence of fragility fractures, and identified fat tissue as a potential detrimental factor for bone health, suggesting a need for monitoring in DMD patients with excessive adiposity. Fat mass measures assessed by DXA could help to identify those at risk, enabling targeted interventions for better bone health. The co-occurrence of multiple glucocorticoid side effects might characterize patients at higher risk of fractures.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"191-199"},"PeriodicalIF":2.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11708446/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142794797","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}
Muscle & NervePub Date : 2025-02-01Epub Date: 2024-12-03DOI: 10.1002/mus.28307
{"title":"Correction to \"Myositis-Related Autoantibody Profile and Clinical Characteristics Stratified by Anti-Cytosolic 5'-Nucleotidase 1A Status in Connective Tissue Diseases\".","authors":"","doi":"10.1002/mus.28307","DOIUrl":"10.1002/mus.28307","url":null,"abstract":"","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"278-279"},"PeriodicalIF":2.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142770660","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}
Muscle & NervePub Date : 2025-02-01Epub Date: 2024-12-16DOI: 10.1002/mus.28308
Rotana Alsaggaf, Ruth M Pfeiffer, Emily E Pearce, Mark H Greene, Hanns Lochmuller, Shahinaz M Gadalla
{"title":"Mortality Trends and Causes of Death in Myotonic Dystrophy Type 1 Patients From the UK Clinical Practice Research Datalink.","authors":"Rotana Alsaggaf, Ruth M Pfeiffer, Emily E Pearce, Mark H Greene, Hanns Lochmuller, Shahinaz M Gadalla","doi":"10.1002/mus.28308","DOIUrl":"10.1002/mus.28308","url":null,"abstract":"<p><strong>Introduction/aim: </strong>Patients with myotonic dystrophy type1 (DM1) have reduced lifespan. This study aimed to quantify mortality risks, and evaluate causes and time trends in DM1.</p><p><strong>Methods: </strong>We identified 1021 DM1 patients and 15,104 matched DM1-free controls from the United Kingdom (UK) Clinical Practice Research Datalink. We used Cox proportional hazards regression models to assess differences in all-cause or cause-specific mortality between DM1 patients and matched controls, and computed standardized mortality ratios (SMRs) for comparisons of DM1 patients with the UK general population.</p><p><strong>Results: </strong>DM1 patients were at higher risk of death compared with matched DM1-free controls (hazard ratio [HR] = 2.9, 95% confidence interval [CI] = 2.5-3.4) or the general UK population (SMR = 8.1, 95% CI = 7.3-9.1). The excess risk was primarily attributed to deaths from respiratory failure (HR = 26.7, p < 0.001), aspiration pneumonia (HR = 15.8, p < 0.001), arrythmia, and conduction defects (HR = 15.7, p < 0.001). No mortality risk difference between DM1 patients and matched DM1-free cohort was noted for all cancers combined (p = 0.52). No significant calendar time-related changes in overall survival were seen for DM1 patients (p trend = 0.19). In mortality cause-specific analysis, and compared with patients diagnosed before 1993, death from cancer was on the rise (HR = 2.35, and 5.82 for patients diagnosed 1993-2003, and 2004-2016).</p><p><strong>Discussion: </strong>Most DM1 patients died of known disease complications. This highlights the need for integrated clinical approaches with more careful and frequent monitoring.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"229-236"},"PeriodicalIF":2.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11708454/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142829384","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}
Muscle & NervePub Date : 2025-02-01Epub Date: 2024-12-18DOI: 10.1002/mus.28325
Pernille Tind, Anna Larsen, Mette Krabsmark Borbjerg, Silvia Lo Vecchio, Ken Steffen Frahm, Niels Ejskjær, Carsten Dahl Mørch, Johan Røikjer
{"title":"Validation of the Histamine- and Heat-Induced Axon-Reflex Flare Response in a Nonselected Population of People With Type 1 Diabetes.","authors":"Pernille Tind, Anna Larsen, Mette Krabsmark Borbjerg, Silvia Lo Vecchio, Ken Steffen Frahm, Niels Ejskjær, Carsten Dahl Mørch, Johan Røikjer","doi":"10.1002/mus.28325","DOIUrl":"10.1002/mus.28325","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Diabetic peripheral neuropathy affects small nerve fibers early, but adequate evaluation has proven difficult. One method for functional assessment of small nerve fiber function is the axon-reflex flare (ARF) response. This study aimed to 1) validate the histamine-induced ARF response in a nonselected population with diabetes, 2) compare the response to that induced by local heating, and 3) compare both methods to an established method (quantitative sensory testing) in a nonselected population with diabetes.</p><p><strong>Methods: </strong>Thirty-four participants with type 1 diabetes were included. The participants underwent a neurological examination, quantitative sensory testing, sural nerve conduction, and histamine- and heat-induced ARF response measurements by full-field laser speckle perfusion imaging after epidermal application of histamine and after local heating by 44<sup>°</sup> Celsius thermode, respectively. Spearman's correlations were assessed. Logistic regression was used to generate receiver operating characteristic curves using the cold detection threshold of quantitative sensory testing as reference.</p><p><strong>Results: </strong>The histamine-induced ARF had an area under the curve (AUC) of 0.82, a sensitivity of 67%, and a specificity of 70%. The heat-induced ARF had an AUC of 0.40, a sensitivity of 36%, and a specificity of 57%. No significant correlation between the histamine- and the heat-induced ARF responses was found.</p><p><strong>Discussion: </strong>The histamine-induced ARF response is a valid marker for small fiber neuropathy even in nonselected populations with diabetes with good agreement with established markers and can thus be used for evaluation of C-fiber function. The lack of correlation with the heat-induced ARF may be due to insufficient heating.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"237-243"},"PeriodicalIF":2.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847112","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":"Validity and Reliability of the 6-min Pegboard and Ring Test in Patients With Duchenne Muscular Dystrophy.","authors":"Çağtay Maden, Demet Gözaçan Karabulut, Sedat Yiğit","doi":"10.1002/mus.28314","DOIUrl":"10.1002/mus.28314","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Tests for assessing upper extremity (UE) functional capacity in patients with Duchenne muscular dystrophy (DMD) are limited. This study aimed to evaluate the validity and reliability of the 6-min pegboard and ring test (6PBRT) as a practical tool for this purpose.</p><p><strong>Methods: </strong>Children with DMD (n = 22) were evaluated using the 6PBRT for UE functional capacity, the Quick Disabilities of the Arm, Shoulder, and Hand (Q-DASH) for functionality, the Pediatric Quality of Life Inventory (PedsQL) for quality of life, and a dynamometer for handgrip strength and UE muscle strength.</p><p><strong>Results: </strong>The 6PBRT showed excellent test-retest reliability, with an intraclass correlation coefficient (ICC) of 0.978 (95% confidence interval, 0.946-0.984). A very strong positive correlation was observed between the test and retest 6PBRT mean scores (r = 0.981). The mean 6PBRT score exhibited moderate-to-strong correlations with handgrip strength (r = 0.653, r = 0.646, right/left, respectively), muscle strength (shoulder flexors [r = 0.793, r = 0.797, right/left, respectively], shoulder abductors (r = 0.763, r = 0.743, right/left, respectively), elbow flexors [r = 0.743, r = 0.755, right/left, respectively]), mean Q-DASH score (r = -0.555), and mean PedsQL score (r = 0.611).</p><p><strong>Discussion: </strong>The 6PBRT appears to be a valid and reliable measure for assessing upper extremity functional capacity in patients with DMD. This test is suitable for patients who are able to lift both hands above their heads.</p><p><strong>Trial registration: </strong>NCT06174025.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"200-207"},"PeriodicalIF":2.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142807784","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}
Muscle & NervePub Date : 2025-02-01Epub Date: 2024-12-24DOI: 10.1002/mus.28317
{"title":"Correction to \"Access for ALL in ALS: A Large-Scale, Inclusive, Collaborative Consortium to Unlock the Molecular and Genetic Mechanisms of Amyotrophic Lateral Sclerosis\" J. D. Berry , S. Paganoni , M. B. Harms , et al., \"Access for ALL in ALS: A Large-Scale, Inclusive, Collaborative Consortium to Unlock the Molecular and Genetic Mechanisms of Amyotrophic Lateral Sclerosis,\" Muscle & Nerve 70, no. 6 (2024): 1140-1150, https://doi.org/10.1002/mus.28244.","authors":"","doi":"10.1002/mus.28317","DOIUrl":"10.1002/mus.28317","url":null,"abstract":"","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"280"},"PeriodicalIF":2.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142882303","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":"Electrophysiological Monitoring of Asymptomatic Transthyretin Mutation Carriers.","authors":"Nicolas Berard, Annie Verschueren, Etienne Fortanier, Aude-Marie Grapperon, Ludivine Kouton, Hadia Rebouh, Julien Gallard, Emmanuelle Salort-Campana, Shahram Attarian, Emilien Delmont","doi":"10.1002/mus.28318","DOIUrl":"10.1002/mus.28318","url":null,"abstract":"<p><strong>Introduction/aims: </strong>It is imperative to screen asymptomatic carriers of transthyretin (TTR) mutations to initiate treatment early. The protocol for repeated electrodiagnostic (EDX) assessments over time lacks standardization. Our aim was to report the electrophysiological evolution of a cohort of asymptomatic carriers and to determine which biomarkers were most sensitive to change.</p><p><strong>Methods: </strong>We performed a retrospective review of medical records of asymptomatic carriers identified by screening families with amyloid neuropathy. Carriers who underwent two EDX assessments with a minimum 1-year interval between studies were selected. EDX included analysis of median, ulnar, tibial, fibular and sural nerves, motor unit number index (MUNIX), electrochemical skin conductance, sympathetic skin response, and heart rate variability on deep breathing. Measurements were compared at first and second examinations.</p><p><strong>Results: </strong>Twenty-three carriers were included with a median age of 49 years (interquartile range 37-58). Median time between examinations was 3 years (2-4). Compound muscle and sensory nerve action potential (CMAP and SNAP) amplitudes, nerve conduction velocities, autonomic small fiber testing and MUNIX remained stable except for motor distal latency of the median nerve (+0.07 ms/year) and CMAP duration of the ulnar (+0.10 ms/year) and fibular (+0.12 ms/year) nerves. The CMAP duration of the ulnar nerve was the most sensitive biomarker to change when performed within 10 years preceding the age of the youngest case in the family, with a standardized response mean of 0.91.</p><p><strong>Discussion: </strong>Nerve conduction parameters remain relatively stable in asymptomatic TTR carriers. Changes can only be detected using multimodal and extensive electrophysiological tests.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"208-215"},"PeriodicalIF":2.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11708451/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818745","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}