Muscle & Nerve最新文献

{"title":"The Diagnostic Utility of Automated Thresholding Ultrasound Analysis in Adults With Hereditary Neuromuscular Disorders.","authors":"Kanellos C Spiliopoulos, Dimitra Veltsista, Ioannis Liampas, Elisabeth Chroni","doi":"10.1002/mus.70223","DOIUrl":"10.1002/mus.70223","url":null,"abstract":"<p><strong>Introduction/aims: </strong>The diagnosis of neuromuscular diseases in adults can be challenging and novel ultrasound methods could facilitate the process. This study investigated the diagnostic value of automated thresholding in identifying hereditary neuromuscular disorders (HNMDs) in adults and in distinguishing between neurogenic and myopathic processes.</p><p><strong>Methods: </strong>Thirty-one patients with neurogenic HNMD, 37 with myopathic HNMD, and 68 healthy controls underwent ultrasound examination based on a four-muscle scanning protocol, including biceps brachii, flexor carpi radialis, rectus femoris, and tibialis anterior. The hyperechoic fraction of Otsu (Otsu-HF) and Triangle (Triangle-HF) thresholding algorithms, grayscale value (GSV), and echovariation (EV) were measured. Global estimates were calculated by averaging individual muscle values. Diagnostic accuracy of echogenicity measures and correlations with muscle strength were investigated.</p><p><strong>Results: </strong>Global and individual Otsu-HF, GSV and EV parameters showed high diagnostic accuracies in identifying HNMDs. All areas under receiver operating characteristic curve were > 0.9 for global parameters and > 0.8 for individual muscle estimates. Global cut-offs of the suggested protocol showed a specificity of 88.2%-98.5% and a sensitivity of 83.8%-89.7%. Furthermore, global Otsu-HF differentiated echogenicity between neurogenic and myopathic HNMDs, yielding a higher accuracy than grayscale analysis (71.6% vs. 63.1%, p = 0.0065). Significant relationships were shown between muscle strength, global and individual Otsu-HF, GSV, and EV.</p><p><strong>Discussion: </strong>Our quantitative muscle ultrasound (QMUS) screening protocol was shown to be a useful tool for assessing adult subjects with suspected HNMDs. In the era of next-generation sequencing, QMUS could be a valuable neurophysiological biomarker in the initial diagnostic workflow, guiding targeted further testing.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1058-1064"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147481156","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":"Case Series: Feasibility of Longitudinal Assessment of the Sciatic Nerve in CMT1A Using High-Resolution 7T MRI.","authors":"Bragi Sveinsson, Mark Vangel, Olivia E Rowe, Peter J Lally, Christopher R Cashman, Reza Sadjadi","doi":"10.1002/mus.70224","DOIUrl":"10.1002/mus.70224","url":null,"abstract":"<p><strong>Introduction/aims: </strong>There is limited data on the sensitivity and responsiveness of high-resolution imaging techniques in the longitudinal assessment of hereditary neuropathies. In this study, our aims were to investigate the ability of ultra-high field magnetic resonance imaging to detect longitudinal changes in the peripheral nerves of Charcot-Marie-Tooth (CMT) 1A patients, and to evaluate the potential benefits of doing so at the nerve fascicle level.</p><p><strong>Methods: </strong>We performed magnetic resonance imaging (MRI) to simultaneously obtain high-resolution anatomical and quantitative data at ultra-high 7 Tesla field strength in peripheral nerves of four patients with CMT1A disease at baseline and follow up. We compared the resulting measurements of T2 in sciatic, tibial, and fibular nerves within individual fascicles of the three nerve regions.</p><p><strong>Results: </strong>Analyzing individual fascicle distributions, we demonstrated a significantly elevated T2 in the fibular nerve over the course of the study, with a mean increase of 3.55 ms (p = 0.01). Changes in the sciatic nerve were marginally significant (mean increase 1.42 ms, p = 0.05), and tibial nerve changes were not significant (mean increase 1.31 ms, p = 0.18). Combining fascicles across subjects showed significant changes in all three nerves over time.</p><p><strong>Discussion: </strong>Our results indicate that longitudinal MRI assessment of individual nerve fascicles may serve as a quantitative biomarker of disease progression in patients with hereditary neuropathies. Further, our study demonstrates that the data provided by fascicle-level analysis may provide better analytical abilities than whole-nerve imaging.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1155-1159"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147481135","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":"Utility of the Early Sjögren Antibody Panel as a Diagnostic Marker for Sensory Neuropathy.","authors":"Lawrence A Zeidman, Cherine Fawaz, Stephanie Phillips, Katie Latack","doi":"10.1002/mus.70204","DOIUrl":"10.1002/mus.70204","url":null,"abstract":"<p><strong>Introduction/aims: </strong>.: Primary Sjögren syndrome (SS) is a chronic autoimmune disease characterized frequently by sensory neuropathy (SN). Carbonic Anhydrase-6 (CA-6), Parotid Secretory Protein (PSP), and Salivary Protein-1 (SP-1) antibodies (Early Sjögren antibodies [ESA]) are found in 45% of SS patients who lack traditional antibodies (Ro/La). But there is a lack of information regarding whether ESA are associated with SN, and if there are any identifying characteristics associated with ESA in SN. Our goal was to close this knowledge gap.</p><p><strong>Methods: </strong>All SN patients tested for ESA from May 2023-October 2024 were retrospectively analyzed for clinical features such as sicca symptoms, onset acuity, small fiber neuropathy (SFN)-questionnaire scores, and pathological features such as length-dependence/vasculitis on skin biopsies, as well as lip biopsy confirmation of SS. Seropositive/seronegative groups were separated for statistical analysis.</p><p><strong>Results: </strong>Thirty-three adult patients (73% female) with cryptogenic SN had ESA testing. Eighteen (55%) had abnormal ESA. Twelve (100%) seropositive patients had significant sicca symptoms versus four seronegative patients (29%) (p = 0.0002). There were no significant associations between ESA seropositivity and SFN-questionnaires, pathological nonlength dependence (NLD)/vasculitis, or onset acuity.</p><p><strong>Discussion: </strong>ESA may be seen in more than half of cryptogenic SN patients, but whether these patients have confirmed SS is unclear. Seropositive patients more frequently have significant sicca symptoms than seronegative patients, but no other significant identifying characteristics were seen. Further work on a larger population should be done to confirm these findings, but this study suggests the utility of checking ESA in cryptogenic SN patients with significant sicca symptoms.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1146-1150"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147468851","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":"Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.","authors":"Alexandre Guérémy, V Morel, T Stojkovic, F Bouhour, A Nadaj Pakleza, J Nectoux, E Fortanier, A Magot, S Sacconi, B Eymard, C Metay, F Duval, M L Martin-Negrier, M Cerino, L Michel, R Menassa, M Cossée, L Barbat du Closel, A Behin, F Leturcq, J B Noury, M Krahn, G Sole, E Pion, S Gorokhova, S Attarian, E Salort-Campana","doi":"10.1002/mus.70229","DOIUrl":"10.1002/mus.70229","url":null,"abstract":"<p><strong>Introduction/aims: </strong>LGMDR8 is a very rare autosomal recessive limb-girdle muscular dystrophy caused by variants in the TRIM32 gene. To date, 92 cases have been reported, mainly in the Hutterite population with a founder effect. This study aimed to describe a cohort of European origin and to investigate genotype-phenotype correlations.</p><p><strong>Methods: </strong>We conducted a retrospective, multicenter study of 14 French patients with genetically confirmed LGMDR8. Clinical, histological, electrodiagnostic, imaging, and genetic data were collected and compared with those from previously published cases.</p><p><strong>Results: </strong>Patients showed a slowly progressive disease course, with a mean age at onset of 25.1 years (range 7.5-40.0). The main presenting symptom was proximal lower limb weakness (n = 13). At last follow-up, all patients had proximal lower limb weakness, 10/14 had upper limb involvement, and 10/14 had distal lower limb weakness. Six patients lost ambulation (mean disease duration: 27.3 years). No cardiac or respiratory involvement was observed. Mean creatine kinase levels were mildly elevated (4.5× upper limit of normal). Muscle biopsies exhibited dystrophic features. Ragged-red and COX-negative fibers were observed in two patients. Muscle magnetic resonance imaging revealed symmetrical involvement predominantly affecting posterior thigh muscles. Fourteen distinct pathogenic variants were identified, including eight new ones. Six variants were located in the C-terminal domain. LGMDR8 was estimated to account for 0.9% of the LGMD cases in France. No clear genotype-phenotype correlation was found.</p><p><strong>Discussion: </strong>LGMDR8 is very rare in non-Hutterite patients. Age of onset is highly variable. Variants are distributed across most protein domains and did not predict clinical severity.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1128-1137"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147628051","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":"Beyond Body Mass Index: Appendicular Lean Mass Index-Defined Sarcopenia and Carpal Tunnel Syndrome-A Cross-Sectional Analysis.","authors":"Sung Ha Chun, Hyun Sik Gong","doi":"10.1002/mus.70215","DOIUrl":"10.1002/mus.70215","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Obesity is a well-established risk factor for carpal tunnel syndrome (CTS), but body mass index (BMI) does not distinguish adiposity from skeletal muscle mass. The role of sarcopenia in CTS has received little attention. Sarcopenia may increase nerve vulnerability to compression. We examined whether appendicular lean mass index (ALMI) and ALMI-defined sarcopenia are associated with CTS independent of BMI.</p><p><strong>Methods: </strong>We retrospectively analyzed 193 consecutive patients aged 50 years or older who underwent carpal tunnel release by a single surgeon at a tertiary center over 4 years. Controls were 5665 age-matched participants from the 2022-2023 Korea National Health and Nutrition Examination Survey. ALMI-defined sarcopenia was compared between groups. Multivariable logistic regression was applied to examine the association between ALMI-defined sarcopenia and CTS, adjusting for BMI.</p><p><strong>Results: </strong>Compared with controls, CTS patients exhibited a higher prevalence of sarcopenia in both men and women (p < 0.05). The association with sarcopenia was significant across most age and sex subgroups, whereas obesity was more evident in younger age groups (50-69 years). In multivariable models, sarcopenia showed a stronger association with CTS (OR 2.41, 95% CI 1.79-3.22) compared with BMI (OR 1.05, 95% CI 1.01-1.10).</p><p><strong>Discussion: </strong>In this case-control study, both obesity and ALMI-based sarcopenia were associated with CTS, with sarcopenia showing a stronger association. These findings suggest an association between reduced muscle mass and CTS independent of BMI. Muscle mass assessment alongside BMI may help clinicians identify at-risk patients who might otherwise be overlooked by conventional obesity metrics.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1032-1037"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147434123","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":"Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy: An Exploratory Analysis of Treatment Effect in Male and Female Patients.","authors":"Márcia Waddington Cruz, John L Berk, Yeşim Parman, Morie Gertz, Sami Khella, Markus Weiler, T Jesse Kwoh, Maksym Pola, Barry Reicher, Jonatan Nåtman, Noel R Dasgupta, Jonas Wixner","doi":"10.1002/mus.70230","DOIUrl":"10.1002/mus.70230","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Eplontersen is approved in multiple regions for adults with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN). This exploratory analysis was conducted to evaluate the treatment effect of eplontersen by sex in patients with ATTRv-PN from the NEURO-TTRansform trial (NCT04136184).</p><p><strong>Methods: </strong>Participants in NEURO-TTRansform who received ≥ 1 dose of eplontersen were included in this analysis; participants in the inotersen reference group who switched to eplontersen were excluded. Eplontersen was evaluated in the overall patient population and in a subgroup with cardiomyopathy. Change from baseline in the NEURO-TTRansform primary endpoints of serum transthyretin (TTR) levels to Week 65, modified Neuropathy Impairment Score +7 (mNIS+7) composite score to Week 66, and Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QoL-DN) total score to Week 66 were evaluated. A historical placebo group from the NEURO-TTR trial (NCT01737398) was included as a control.</p><p><strong>Results: </strong>The eplontersen group comprised 100 (69.4%) male and 44 (30.6%) female patients. The placebo group comprised 41 (68.3%) male and 19 (31.7%) female patients. For both sexes, treatment with eplontersen decreased serum TTR levels by > 80% (vs. reductions of 3%-13% with placebo), maintained mNIS+7 scores, and improved Norfolk QoL-DN scores (vs. deterioration with placebo). The treatment effect of eplontersen was similar in male and female patients with cardiomyopathy.</p><p><strong>Discussion: </strong>Eplontersen halted neuropathy impairment and improved quality of life versus placebo to a similar degree in both male and female patients with ATTRv-PN, including those with cardiomyopathy. These findings support the use of eplontersen as an effective treatment for ATTRv-PN regardless of sex.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1118-1127"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13138353/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147623281","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":"Neuromuscular Ultrasound for the Diagnosis of Acute Onset Median Neuropathy Secondary to a Thrombosed Persistent Median Artery: A Case Report.","authors":"Ujjawal Roy, Michael S Cartwright, Achal Kumar Srivastava, Y Muralidhar Reddy, Ajay Panwar","doi":"10.1002/mus.70075","DOIUrl":"10.1002/mus.70075","url":null,"abstract":"","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1186-1189"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145573493","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":"Synuclein Deposition in Idiopathic Small-Fiber Neuropathy: A Pilot Study.","authors":"Matthew W Schelke, Kurenai Tanji, Thomas H Brannagan","doi":"10.1002/mus.70235","DOIUrl":"10.1002/mus.70235","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Small-fiber neuropathy (SFN) is a heterogeneous disorder with many established causes, but around half of all cases are idiopathic after extensive investigation. Recent pathologic studies in Parkinson disease have revealed deposition of ⍺-synuclein in small sensory and autonomic nerve terminals in skin biopsy specimens, suggesting that ⍺-synuclein deposition may cause SFN in patients with systemic synucleinopathies. Our aim was to investigate whether ⍺-synuclein deposition may also underlie cases of SFN previously classified as idiopathic.</p><p><strong>Methods: </strong>We co-stained skin biopsy specimens of 17 patients with SFN (8 idiopathic and 9 symptomatic) for ⍺-synuclein and protein gene product 9.5 (PGP 9.5). Specimens had been previously obtained for clinical diagnostic purposes and were recut in 10 μm sections on a freezing sliding microtome and mounted on slides followed by staining. Specimens were viewed under a Zeiss fluorescent microscope.</p><p><strong>Results: </strong>We found PGP 9.5-positive nerve terminals in all specimens, but none demonstrated positive staining for ⍺-synuclein.</p><p><strong>Discussion: </strong>This suggests that ⍺-synuclein deposition is not a common underlying cause of idiopathic SFN and may be specific to systemic synucleinopathies. As no neurodegenerative causes of idiopathic SFN have yet been identified, further research is needed to investigate novel causes of this common condition that is often associated with pain, autonomic dysfunction, and diminished quality of life.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1160-1163"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147593311","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":"Old Foundations in a New Era of Myasthenia Gravis Therapy.","authors":"Kara Stavros, Pushpa Narayanaswami","doi":"10.1002/mus.70219","DOIUrl":"10.1002/mus.70219","url":null,"abstract":"","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"939-941"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147444010","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":"Development of a Foundational Neuromuscular Ultrasound Competency Assessment for Trainees.","authors":"Marianne T Luetmer, James B Meiling, Andrea Leep Hunderfund, Ruple S Laughlin, Andrea J Boon","doi":"10.1002/mus.70217","DOIUrl":"10.1002/mus.70217","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Neuromuscular ultrasound (NMUS) is becoming increasingly incorporated as a complementary tool in electrodiagnostic (EDX) medicine. Competency assessment is critical to ensure adequate quality, appropriate application, and accurate interpretation. The primary objective was to develop a competency-based assessment tool of foundational NMUS skills among postgraduate medical trainees in a single center.</p><p><strong>Methods: </strong>The assessment included written (28 multiple-choice, short answer, or yes/no) questions and practical skills (15 prompts) sections recommended by a published consensus-based survey to include the knowledge and skills necessary to achieve minimal competency for unsupervised practice of NMUS for common conditions. The written portion included interpretation of basic pathology. Core practical content focused on the most evaluated structures in the Mayo EDX laboratory: the median and ulnar nerves and diaphragm muscle. The practical portion was administered by a single examiner and scored with a five-point competency-based rating. Four experienced educators used the Angoff standard setting method to set passing scores for each section.</p><p><strong>Results: </strong>Subjects included three EMG-track clinical neurophysiology fellows who completed a NMUS lecture series with supervised hands-on scanning and a 2-week intra-lab NMUS elective during fellowship. Composite scores ranged from 89% to 97%. All subjects met minimum passing scores for each section (77% and 88% for the knowledge and skills sections, respectively).</p><p><strong>Discussion: </strong>This NMUS competency assessment was successfully implemented and may be incorporated into postgraduate medical trainee evaluation to ensure minimal competency in evaluation of carpal tunnel syndrome, ulnar neuropathy at the elbow, and diaphragm function. This effort integrates quality NMUS evaluations into clinical practice.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1151-1154"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147468789","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}