Muscle & Nerve最新文献

{"title":"Response to the Letter From Gaul-Muller and Bach on NIV Intolerance, NIV Settings and Mortality in MND Patients With Gastrostomy.","authors":"Jie Yang, Svein Van Oyen, Merrilee Needham, Emily Calton","doi":"10.1002/mus.28456","DOIUrl":"10.1002/mus.28456","url":null,"abstract":"","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"338-339"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144285449","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":"Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL.","authors":"Hani Kushlaf, Jordi Díaz-Manera, Drago Bratkovic, Barry J Byrne, Kristl G Claeys, Paula R Clemens, Mazen M Dimachkie, Priya S Kishnani, Pascal Laforêt, Mark Roberts, Benedikt Schoser, Antonio Toscano, Jeff Castelli, Fred Holdbrook, Sheela Sitaraman Das, Mitchell Goldman, Tahseen Mozaffar","doi":"10.1002/mus.28420","DOIUrl":"10.1002/mus.28420","url":null,"abstract":"<p><strong>Introduction/aims: </strong>The randomized, double-blind PROPEL study (NCT03729362) suggested benefits for cipaglucosidase alfa plus miglustat (cipa+mig) versus alglucosidase alfa plus placebo (alg+pbo) in enzyme replacement therapy (ERT)-experienced adults with late-onset Pompe disease (LOPD). To further assess treatment response and the effect of switching treatment from alg to cipa+mig, we conducted a within-group effect size analysis in ERT-experienced patients.</p><p><strong>Methods: </strong>In this post hoc analysis, standardized within-group effect sizes (Cohen's d for correlated measurements from baseline to week 52) were calculated by dividing the mean change from baseline by the corresponding standard deviation for motor function, lung function, and muscle strength outcomes; patient-reported outcomes/quality of life; and biomarker levels (creatine kinase and hexose tetrasaccharide).</p><p><strong>Results: </strong>In PROPEL, 77% of patients received ERT with alg before study entry (median ERT duration 7.4 years). ERT-experienced patients remaining on alg+pbo (n = 30) generally showed within-group worsening (d ≤ -0.2) or stability (-0.2 < d < 0.2) across most outcomes, while those switched to cipa+mig (n = 65) mostly showed improvement (d ≥ 0.2) or stability. Patients remaining on alg+pbo demonstrated statistically significant worsening for several lung function outcomes, biomarker levels, and significant improvement for Patient-Reported Outcomes Measurement Information System (PROMIS)-Dyspnea. Patients switched to cipa+mig did not demonstrate significant worsening for any outcomes and showed significant improvements for 6-min walk distance (absolute and % predicted); upper, lower, and overall manual muscle testing; PROMIS-Fatigue; Physician (overall score) and Subject Global Impression of Change (5/8 subdomains); and biomarker levels.</p><p><strong>Discussion: </strong>ERT-experienced patients with LOPD who switched from alg to cipa+mig treatment achieved improvements or stability in most outcomes.</p><p><strong>Trial registration: </strong>ClinicalTrials.gov identifier: NCT03729362.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"230-239"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144029060","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":"Nerve Ultrasound for Detecting Morphologic Changes in Malnourished Children Under 5 Years of Age: A Comparative Study of Nutritional Intervention Outcomes in Bangladesh.","authors":"Nurun Nahar Naila, Aklima Alam, Gobinda Karmakar, M Munirul Islam, Tahmeed Ahmed, Badrul Islam","doi":"10.1002/mus.28432","DOIUrl":"10.1002/mus.28432","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Malnourished children may experience disrupted peripheral nerve myelination, leading to impaired nerve conduction. However, ultrasound data on nerve morphology in severely malnourished children are lacking. Therefore, we performed a systematic study, comparing nerve ultrasound in malnourished children to controls.</p><p><strong>Methods: </strong>Nerve cross-sectional area (CSA) was assessed in three categories of malnourished (severe acute malnutrition [SAM], stunted, and wasted) and healthy Bangladeshi children aged 6-59 months to compare morphological changes at baseline (pre-intervention) and post-nutritional intervention.</p><p><strong>Results: </strong>A total of 74 children were enrolled, including 17 with SAM, 19 wasted, 18 stunted, and 20 healthy controls. SAM children showed smaller nerve CSA compared to wasted peers, particularly in the sciatic nerve (8.25 mm² vs. 11.48 mm², p = 0.035) and median nerve proximal wrist (2.65 mm² vs. 2.90 mm², p = 0.004) among 6-23-month-olds. In the 24-59-month group, the median nerve proximal wrist CSA in SAM children was 2.30 mm² versus 3.90 mm² in healthy children (p = 0.019), and sciatic nerve CSA was 9.05 mm² versus 16.60 mm² (p = 0.008). Nutritional intervention improved z-scores in SAM children numerically, though not significantly within the study period.</p><p><strong>Discussion: </strong>SAM children had smaller nerve CSA compared with wasted, stunted, and healthy children at specific nerve locations. These findings underscore the substantial impact of SAM on nerve morphology and the importance of early, sustained nutritional interventions, warranting further validation through animal models and large-scale studies in both children and adults.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"258-266"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079232","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":"A Preliminary Investigation of Acoustic Features for Remote Monitoring of Respiration in ALS.","authors":"Kathryn P Connaghan, Marziye Eshghi, Abigail E Haenssler, Jordan R Green, Joycelyn Wang, Zoe Scheier, Mackenzie Keegan, Alison Clark, Jukka-Pekka Onnela, Katherine M Burke, James D Berry","doi":"10.1002/mus.28435","DOIUrl":"10.1002/mus.28435","url":null,"abstract":"<p><strong>Introduction/aims: </strong>There is a substantial need to establish reliable approaches for low-burden at-home monitoring of respiratory function for people with amyotrophic lateral sclerosis (PALS). This preliminary study assessed the potential of acoustic features extracted from a smartphone passage reading task to serve as clinically meaningful outcome measures reflecting instrumental and self-reported respiratory function measures.</p><p><strong>Methods: </strong>Thirty-six PALS completed an in-clinic slow vital capacity (SVC) task, followed by at-home completion of surveys and audio recording of a reading passage using a smartphone application. Speaking rate and pause features were extracted offline. Correlation analysis evaluated the relationship between the acoustic features and both instrumental (SVC) and self-reported (respiratory subscale of the self-entry version of the ALS Functional Rating Scale-Revised; ALSFRS-RSE) measures of respiratory function. Receiver operator characteristic (ROC) with area under the curve (AUC) analysis evaluated the utility of acoustic features for classifying participants with and without respiratory involvement.</p><p><strong>Results: </strong>SVC and respiratory self-ratings were significantly correlated with pause, but not rate, measures. Percent pause time was the most strongly correlated acoustic feature with both SVC (r = -0.62) and ALSFRS-RSE respiratory subscale ratings (r = -0.43). ROC analysis revealed that percent pause time classified participants presenting with respiratory involvement based on instrumentation (SVC < 70% predicted [AUC = 0.70]; SVC < 50% predicted [AUC = 0.88]) and self-ratings when using the respiratory ALSFRS-RSE score cut-off of < 11 (AUC = 0.78), but not < 12 (AUC = 0.61).</p><p><strong>Discussion: </strong>Percent pause time, extracted from a smartphone-recorded passage reading, offers a promising index for remote assessment and monitoring of respiratory function in PALS.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"321-326"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12353816/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025086","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":"Chronic Inflammatory Demyelinating Polyneuropathy: How Pathophysiology Can Guide Treatment.","authors":"Karissa L Gable, Yingkai Li","doi":"10.1002/mus.28438","DOIUrl":"10.1002/mus.28438","url":null,"abstract":"<p><p>Chronic inflammatory demyelinating polyneuropathy (CIDP) is an autoimmune demyelinating neuropathy that is most commonly characterized clinically by progressive proximal and distal weakness affecting the upper and lower extremities, sensory loss, and reduced or absent reflexes. These symptoms evolve over the time course of 8 weeks or more. While the majority of CIDP demonstrates this clinical phenotype, there are CIDP variants as well. The milieu of the underlying pathophysiology and immunologic factors involved is complex and involves components of both the innate and adaptive immune systems. As more is understood about the underlying pathophysiology, novel targets and patterns have emerged guiding further classification and management. This is most notable in the discovery of antibodies targeting paranodal and nodal regions related to anti-neurofascin-155 and anti-contactin-1 antibody-mediated disease resulting in a reclassification as demyelinating nodo-paranodopathies. Triggering antigens and correlative antibodies for CIDP are otherwise undiscovered. While first-line therapies for CIDP currently are broad and non-targeted, a shift in approach has been to develop specific targeted treatments guided by what is understood about the underlying pathophysiology. Some of these targets include specific types of B-cell depletion, complement inhibition, immunoglobulin G (IgG) reduction via inhibition of the neonatal Fc receptor (FcRn) recycling of IgGs, treatments related to T-cell dysfunction, and macrophage inhibition.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"201-211"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144102238","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":"Details Matter: The Difference Between NIV and NVS.","authors":"Kelli Gaul-Muller, John R Bach","doi":"10.1002/mus.28400","DOIUrl":"10.1002/mus.28400","url":null,"abstract":"","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"336-337"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795788","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":"Peripheral Nervous System Involvement of Hereditary Transthyretin Amyloidosis in the United States: A Multi-Center Perspective.","authors":"Urvi Desai, Hristelina S Ilieva, James E Eyer, Amanda C Peltier","doi":"10.1002/mus.28414","DOIUrl":"10.1002/mus.28414","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant multisystem disorder that occurs worldwide. The most common mutation in the United States, V142I, has previously been described as having a primarily cardiac presentation. However, the prevalence of peripheral neuropathy (PN) in V142I ATTRv patients is unclear. We aimed to characterize and compare the peripheral nervous system involvement of the Val142Ile (V142I, previously V122I) ATTRv mutation with other known ATTRv mutations.</p><p><strong>Methods: </strong>A retrospective, cross-sectional study was carried out on patients with genetically confirmed ATTRv at 3 institutions from 2018 to 2022. Neuropathic, autonomic, and cardiac symptoms and signs, as well as electrodiagnostic study results, were reviewed for each patient.</p><p><strong>Results: </strong>Fifty-eight V142I and eighteen non-V142I ATTRv patients were evaluated. The majority of V142I patients had signs of PN, with abnormal pinprick sensitivity and temperature loss (74%), weakness (60%), and loss of deep tendon reflexes (59%). The presence of lightheadedness (29%) and gastrointestinal symptoms (14%) suggested autonomic involvement. PN characteristics and the prevalence of median mononeuropathy did not differ significantly between V142I and non-V142I patients. The population of V142I patients was disproportionately African American (86%) as expected.</p><p><strong>Discussion: </strong>Polyneuropathy is more commonly found in V142I ATTRv patients than previously reported and has a wide range of phenotypes. A low threshold for neurology referral and electrodiagnostic studies in at-risk populations is encouraged.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"286-293"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111297","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":"Function of the Normal Neuromuscular Junction in Young Children.","authors":"Márk Kozák, Katalin Szatmári, Erzsébet Németh, Béla Fülesdi, Attila Nagy, Attila Tóth, Judit Boczán","doi":"10.1002/mus.28445","DOIUrl":"10.1002/mus.28445","url":null,"abstract":"<p><strong>Introduction/aims: </strong>The repetitive nerve stimulation (RNS) test is fundamental to test the functional integrity of the neuromuscular junction. RNS data are scarce for newborns and young children, limiting early diagnostic efforts to identify children with neuromuscular diseases. Here, we performed RNS in young children.</p><p><strong>Methods: </strong>RNS of the axillary nerve was performed in 34 otherwise healthy young children (0 to 48 months of age) undergoing procedural sedation or analgesia. Compound muscle action potentials (CMAP) were recorded over the deltoid muscle. CMAP amplitude and area decrement between the 1st and 4th potential were determined at 3 Hz stimulation. Post-tetanic facilitation, twitch-to-tetanus ratio, and heart rates were recorded.</p><p><strong>Results: </strong>The largest CMAP amplitude decrement value was 7% at rest, having a median of 1%, and an interquartile range of 1%-3%. There was no correlation between the CMAP amplitude decrement and age. In contrast, a moderate positive correlation was found between the CMAP area decrement and age, occasionally exceeding 10% in infants younger than 6 months. Both post-tetanic facilitation and twitch-to-tetanus ratio exhibited a moderate positive correlation with age.</p><p><strong>Discussion: </strong>While the CMAP amplitude decrement in young children was within the adult normal range, the area decrement may be higher. Studies of RNS on other nerves in unsedated children are needed to investigate the findings from this study further.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"306-312"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144160303","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":"Measuring Adverse Event Burden in Myasthenia Gravis: Retrospective Validation of the Adverse Event Unit With Randomized Trial of Thymectomy in Myasthenia Gravis Data.","authors":"Michael K Hehir, Inmaculada B Aban, Henry J Kaminski","doi":"10.1002/mus.28447","DOIUrl":"10.1002/mus.28447","url":null,"abstract":"<p><strong>Introduction/aims: </strong>The Adverse Event Unit (AEU) is a patient and physician weighted unit that quantifies and compares adverse event (AE) burden among any neurologic treatments. A recent study demonstrated feasibility and preliminary validity of the AEU in myasthenia gravis (MG). This study evaluated feasibility of assigning AEU scores retrospectively from pre-existing data in the randomized clinical trial of thymectomy in MG (MGTX) and quantifying AE burden differences in participants.</p><p><strong>Methods: </strong>Serious and non-serious AE were recorded at MGTX visits. AEU scores were assigned by matching MGTX AE to AEU categories. Total AEU score for each participant was compared to the prednisone dosage area under the curve for years 1, 2, and 3. We also compared differences in AEU scores between participants treated with prednisone and azathioprine versus those treated with prednisone alone.</p><p><strong>Results: </strong>All 117 MGTX patients received prednisone; 32% also received azathioprine. A weak correlation between increasing prednisone exposure and total AEU score was observed at year 2 (r = 0.19, p = 0.04) and year 3 (r = 0.23, p = 0.01). Participants treated with azathioprine in addition to prednisone had higher AEU scores than patients treated with prednisone alone at years 1 (median AEU 19 vs. 5, p = 0.037), 2 (median AEU 23 vs. 6, p = 0.018), and 3 (median AEU 34 vs. 9, p = 0.006).</p><p><strong>Discussion: </strong>Pre-existing clinical trial data can be translated into AEU scores. MG patients treated with multiple immunosuppressants had the highest AEU scores, similar to our prospective trial. Future studies will compare the side effect burden of MG treatments and define clinically meaningful AEU scores.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"313-320"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144199592","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":"Quinine Sulfate for Muscle Cramps in Amyotrophic Lateral Sclerosis: A Randomized, Double-Blind Crossover Trial.","authors":"Charlotte Vogt, Markus Weber, Ursula Schneider, Christoph Neuwirth","doi":"10.1002/mus.28440","DOIUrl":"10.1002/mus.28440","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Many patients with amyotrophic lateral sclerosis (ALS) experience muscle cramps during the course of the disease. This study aimed to evaluate the efficacy of orally administered quinine sulfate for muscle cramps in ALS patients.</p><p><strong>Methods: </strong>We conducted a randomized, double-blind, placebo-controlled crossover trial in ALS patients experiencing daily muscle cramps. After a two-week run-in period, patients were assigned to receive 250 mg quinine sulfate once daily, followed by a placebo or vice versa. Each treatment period lasted 2 weeks and was followed by a 4-week washout period. Patients used a daily diary to rate muscle cramp intensity on the numeric rating scale (NRS) and record muscle cramp frequency. The primary outcome measure was change in cramp intensity; coprimary outcome measures were number of muscle cramps during daytime and nighttime.</p><p><strong>Results: </strong>Data from four women and three men were included in the analysis, all of whom reported a notable reduction in cramp intensity and frequency, leading them to continue the medication. Quinine sulfate was well-tolerated, with two patients reporting mild tinnitus. Cramp intensity was significantly reduced by 48% (p = 0.042). Further, the number of daytime muscle cramps declined significantly (p = 0.024).</p><p><strong>Discussion: </strong>Our findings suggest the potential efficacy of quinine sulfate in reducing muscle cramp intensity and frequency in ALS patients. However, the small sample size (n = 7) limits generalizability. Larger, multicenter studies are needed to confirm these results and fully assess its safety, serious adverse events, and therapeutic potential.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"267-273"},"PeriodicalIF":3.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094465","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}