Muscle & Nerve最新文献_第6页

Predictive Values of Preoperative Compound Muscle Action Potential Amplitude for Surgical Outcomes in Idiopathic Ulnar Neuropathy at the Elbow. 术前复合肌动作电位振幅对肘部特发性尺神经病变手术结果的预测价值。

IF 3.1 3区医学

Muscle & Nerve Pub Date : 2025-09-26 DOI: 10.1002/mus.70021

Jae-Yong Cho, Hyeong-Jun Rhyu, Hyun-Kyo Kim, Hee-Soo Kim, Won-Taek Oh, Il-Hyun Koh, Yun-Rak Choi

{"title":"Predictive Values of Preoperative Compound Muscle Action Potential Amplitude for Surgical Outcomes in Idiopathic Ulnar Neuropathy at the Elbow.","authors":"Jae-Yong Cho, Hyeong-Jun Rhyu, Hyun-Kyo Kim, Hee-Soo Kim, Won-Taek Oh, Il-Hyun Koh, Yun-Rak Choi","doi":"10.1002/mus.70021","DOIUrl":"https://doi.org/10.1002/mus.70021","url":null,"abstract":"Introductions/aims: Despite numerous studies on ulnar neuropathy at the elbow (UNE), the predictive value of preoperative compound muscle action potential (CMAP) amplitude for postoperative intrinsic function remains unclear. This study aimed to evaluate the predictive values of preoperative CMAP amplitude for surgical outcomes in idiopathic UNE.Methods: A retrospective study was conducted on patients who underwent ulnar nerve transposition for idiopathic UNE with at least 24 months of follow-up. The primary outcome was the Medical Research Council (MRC) muscle strength of the abductor digiti minimi (ADM), and poor ADM function was defined as an MRC grade ≤ 2 at the final follow-up or a grade lower than baseline. Secondary outcomes included the key pinch strength ratio, grip strength ratio, and patient-reported outcomes. Correlation and regression analyses were performed to identify factors associated with clinical outcomes, and a ROC curve was used to determine the cut-off value of preoperative CMAP amplitude for predicting poor ADM function.Results: A total of 79 patients were included. Preoperative CMAP amplitude showed significant correlations with postoperative ADM MRC grade and key pinch strength ratio. Poor ADM function was observed in 11 patients (14%) and was independently associated with lower CMAP amplitude. The ROC curve analysis revealed a cut-off value of 6.15 mV (AUC 0.83, sensitivity 100%, specificity 71%).Discussion: This study indicates that preoperative CMAP amplitude could be a key predictor of postoperative ADM function in idiopathic UNE. A cut-off of 6.15 mV may help identify patients at risk of poor recovery and guide surgical decision-making.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145176571","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}

引用次数: 0

A Multinational Study of Patient and Caregiver-Reported Insights Into ADSS1 Myopathy. 一项针对患者和护理人员报告的ADSS1肌病的跨国研究。

IF 3.1 3区医学

Muscle & Nerve Pub Date : 2025-09-25 DOI: 10.1002/mus.70033

Merve Koç Yekedüz, Yunjung Choi, Soo-Hyun Kim, Raquel van Gool, Hanne van der Heijden, Lise Vrolix, Buket Sonbas Cobb, Seward Rutkowe, Julie Shulman, Alan Beggs, Atchayaram Nalini, Dipti Baskar, Naveen Baweja, Priyanka Kakkar, Walla Al-Hertani, Hyung Jun Park, Jaymin Upadhyay

{"title":"A Multinational Study of Patient and Caregiver-Reported Insights Into ADSS1 Myopathy.","authors":"Merve Koç Yekedüz, Yunjung Choi, Soo-Hyun Kim, Raquel van Gool, Hanne van der Heijden, Lise Vrolix, Buket Sonbas Cobb, Seward Rutkowe, Julie Shulman, Alan Beggs, Atchayaram Nalini, Dipti Baskar, Naveen Baweja, Priyanka Kakkar, Walla Al-Hertani, Hyung Jun Park, Jaymin Upadhyay","doi":"10.1002/mus.70033","DOIUrl":"https://doi.org/10.1002/mus.70033","url":null,"abstract":"Introduction/aims: Adenylosuccinate synthase-like 1 (ADSS1) myopathy is an ultra-rare disorder caused by biallelic pathogenic variants in the ADSS1 gene. This results in progressive muscle weakness, fatigue, dysphagia, and, in severe cases, cardiomyopathy and respiratory failure. The aim of the study was to evaluate how ADSS1 myopathy impacts patients' lives and to comprehensively assess their quality of life.Methods: We conducted individual interviews in 31 participants with ADSS1 myopathy from six countries. Participants engaged in structured interviews, which included both open-ended questions and the Individualized Neuromuscular Quality of Life (INQoL) questionnaire. Thematic analysis was employed to identify the primary concerns, symptoms, and quality-of-life challenges faced by patients.Results: From individual interviews, the decline in mobility and motor skills (54.8%) and muscle weakness (48.3%) primarily impacting the lower extremities emerged as the most frequently reported bothersome symptoms. The most reported concerns were decline in mobility, motor skills, and gait disturbance (58.0%). Only 5% of the patients reported no impact of ADSS1 myopathy on their work or social life. The INQoL questionnaire identified 20 patients (64.5%) with pain, with the most common location being the lower extremities, while fatigue was reported by all patients except one. The most identified treatment priorities were improving motor function (51.6%) and halting disease progression (48.3%).Discussion: This study highlights the significant physical and psychosocial burden of ADSS1 myopathy, with progressive muscle weakness and multisystem involvement affecting daily life. The findings underscore the need for early diagnosis and multidisciplinary care approaches.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137925","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}

引用次数: 0

Broadening the Comorbidity Landscape in Facioscapulohumeral Dystrophy: Beyond the Usual Suspects. 拓宽面部肩胛骨-肱骨营养不良的共病景观：超越通常的怀疑。

IF 3.1 3区医学

Muscle & Nerve Pub Date : 2025-09-24 DOI: 10.1002/mus.70026

Christian Messina

引用次数: 0

Feasibility of a Home-Based Exergaming Intervention for Youth With Spinal Muscular Atrophy. 青少年脊髓性肌萎缩症家庭运动干预的可行性。

IF 3.1 3区医学

Muscle & Nerve Pub Date : 2025-09-24 DOI: 10.1002/mus.70032

Ihsane Iraqi, Pamela Ng, Xing Chen, Niamh Cushen, Juergen Gottowik, David Herzig, Shaainthabie Karthigesu, Danielle Levac, Alex MacKenzie, Jean K Mah, Slawomir Opalka, Beth Potter, Kathryn Selby, Jordan Sheriko, Maureen Smith, Sarah Turgeon-Desilets, Angelina Woof, Maryam Oskoui

{"title":"Feasibility of a Home-Based Exergaming Intervention for Youth With Spinal Muscular Atrophy.","authors":"Ihsane Iraqi, Pamela Ng, Xing Chen, Niamh Cushen, Juergen Gottowik, David Herzig, Shaainthabie Karthigesu, Danielle Levac, Alex MacKenzie, Jean K Mah, Slawomir Opalka, Beth Potter, Kathryn Selby, Jordan Sheriko, Maureen Smith, Sarah Turgeon-Desilets, Angelina Woof, Maryam Oskoui","doi":"10.1002/mus.70032","DOIUrl":"https://doi.org/10.1002/mus.70032","url":null,"abstract":"Introduction/aims: Approaches to optimize physical activity in youth with spinal muscular atrophy (SMA) are rapidly evolving. The primary objective of this study was to assess the feasibility of a fit-for-purpose home-based exergaming intervention in children and youth with SMA and peer controls.Methods: We conducted a 4-week study at two Canadian sites to assess the feasibility of Tales from the Magic Keep, a home-based exergame specifically developed for youth with neuromuscular disorders that targets upper limb and trunk movements. Participants were asked to play the exergame for at least 20 min per session, 4 times a week for 4 weeks, and wear an accelerometer-based wearable device. Adherence, acceptability, and usability evaluations informed feasibility determinations. Adherence was quantified by gameplay frequency and duration. Acceptability and usability were assessed using study-specific questionnaires and the system usability scale (SUS).Results: We enrolled 12 participants, 8 of whom completed the study: 4 SMA (3 Type II, 1 Type III) and 4 controls. Among those 8, adherence was high, with an average of 4.5 and 3.5 sessions per week for the SMA and control groups respectively, and they found gameplay to be acceptable and enjoyable. The median score on the SUS was 68/100. The wearable device was generally well accepted; participants reported it as comfortable to wear and not interfering with daily activities.Discussion: The exergame was feasible and acceptable in two thirds of participants. Iterative feedback obtained during this study led to subsequent updates to the game interface to optimize gameplay.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145131528","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}

引用次数: 0

Anaphylaxis During Delandistrogene Moxeparvovec Infusion Therapy in a Boy With Duchenne Muscular Dystrophy. 杜氏肌营养不良男孩的德兰德消原莫西帕沃韦输液治疗期间的过敏反应。

IF 3.1 3区医学

Muscle & Nerve Pub Date : 2025-09-23 DOI: 10.1002/mus.70029

Regina Laine, Craig D Platt, Partha S Ghosh

引用次数: 0

Electrodiagnostic and Functional Biomarkers for Non-Ambulatory Children With Late-Onset Spinal Muscular Atrophy. 迟发性脊髓性肌萎缩症患儿的电诊断和功能生物标志物。

IF 3.1 3区医学

Muscle & Nerve Pub Date : 2025-09-23 DOI: 10.1002/mus.70030

Mariana Minei Ogata, Vishva Natarajan, Sriharsha Sripadrao, Soham Verma, Laura M Johnson, Durga Shah, Mary Ritchey, Kimberly Carvell, Sumit Verma

{"title":"Electrodiagnostic and Functional Biomarkers for Non-Ambulatory Children With Late-Onset Spinal Muscular Atrophy.","authors":"Mariana Minei Ogata, Vishva Natarajan, Sriharsha Sripadrao, Soham Verma, Laura M Johnson, Durga Shah, Mary Ritchey, Kimberly Carvell, Sumit Verma","doi":"10.1002/mus.70030","DOIUrl":"https://doi.org/10.1002/mus.70030","url":null,"abstract":"Introduction/aims: Identifying sensitive response measures is crucial for evaluating treatment efficacy in SMA patients. Current electrodiagnostic (EDX) measures include compound muscle action potential (CMAP), motor unit number index (MUNIX), and motor unit size index (MUSIX). Functional measures include Hammersmith functional motor scale extended (HFMSE), Children's Hospital of Philadelphia infant test of neuromuscular disorders (CHOP-INTEND), and the revised upper limb module (RULM). Here, we compared EDX to traditional functional measures for monitoring treatment response in pediatric SMA.Methods: A retrospective chart review of 16 non-ambulatory, late-onset (> 6 months of age) SMA children seen between January 2017 and June 2024 was performed. Motor nerve conduction study (NCS) recordings from the right median-abductor pollicis brevis (APB) and ulnar-abductor digiti minimi (ADM) nerve muscle pairs and functional scores were compared using Spearman correlation and a generalized linear mixed model (GLMM).Results: EDX measures were significantly reduced in SMA children compared to healthy, age-matched controls (p < 0.05). Median abductor pollicis brevis (APB) CMAP amplitudes demonstrated moderate to strong correlations with CHOP-INTEND (r = 0.64, p < 0.05) and RULM (r = 0.77, p < 0.05) scores, and the GLMM revealed that APB CMAP significantly decreased over time (Beta = -0.02, p < 0.05) in the non-treatment compared to the treatment group. HMFSE showed a declining trend in patients who received only risdiplam.Discussion: Median-APB CMAP amplitude demonstrated sensitivity in capturing treatment response. A prospective study comparing nusinersen and risdiplam in a larger, clinically diverse cohort with a longer follow-up period is needed.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145125241","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}

引用次数: 0

Test-Retest Reliability of Perception Threshold Estimation in Small Cutaneous Nerve Fibers: A Methodological Investigation. 小皮神经纤维知觉阈值估计的重测信度：一项方法学研究。

IF 3.1 3区医学

Muscle & Nerve Pub Date : 2025-09-22 DOI: 10.1002/mus.70031

Helena Brøckner, Sarah Nygaard Jensen, Kristian Hennings, Carsten Dahl Mørch

{"title":"Test-Retest Reliability of Perception Threshold Estimation in Small Cutaneous Nerve Fibers: A Methodological Investigation.","authors":"Helena Brøckner, Sarah Nygaard Jensen, Kristian Hennings, Carsten Dahl Mørch","doi":"10.1002/mus.70031","DOIUrl":"https://doi.org/10.1002/mus.70031","url":null,"abstract":"Introduction/aims: Nerve excitability testing of small cutaneous nerve fibers has been proposed as a new tool for investigating the underlying mechanisms of small fiber neuropathy. These assessments may be performed using perception threshold tracking with pin-electrodes that preferentially activate small cutaneous nerve fibers. In this study, the test-retest reliability of two perception threshold (PT) algorithms: the Psi method and the Method of Limits (MoL), was compared.Method: Twenty healthy subjects completed the study. Electrical stimulation was applied using a pin electrode, and the PT to a 1 ms rectangular pulse was estimated six times during two sessions separated by 1 week. The test-retest reliability was evaluated by the intraclass correlation coefficient (ICC) and the coefficient of variation (CV). The two PT algorithms were compared by limits of agreement (LoA).Results: The ICC indicated better within-session reliability (Psi: 0.77 and MoL: 0.81) than between-session reliability (Psi: 0.58 and MoL: 0.50) regardless of the algorithm used. The PTs were significantly lower when measured with the MoL (0.88 mA) compared to the estimates by the Psi (1.12 mA) method.Discussion: The estimation of PT can be reliably assessed, especially within-session, with both the MoL and Psi methods. This allows for PT tracking, where PTs to different electrical stimulation provide an estimation of nerve fiber excitability. PT values obtained using different methods are not directly comparable.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145113869","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}

引用次数: 0

Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) Developing During Tacrolimus Treatment: A Case Series. 慢性炎症性脱髓鞘性多根神经病变（CIDP）在他克莫司治疗期间发展：一个病例系列。

IF 3.1 3区医学

Muscle & Nerve Pub Date : 2025-09-17 DOI: 10.1002/mus.70025

Matthew C Evans, Roberto Bellanti, Samer Dahdaleh, Kushan Karunaratne, Simon Rinaldi, Jane Pritchard, Stuart Viegas

{"title":"Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) Developing During Tacrolimus Treatment: A Case Series.","authors":"Matthew C Evans, Roberto Bellanti, Samer Dahdaleh, Kushan Karunaratne, Simon Rinaldi, Jane Pritchard, Stuart Viegas","doi":"10.1002/mus.70025","DOIUrl":"https://doi.org/10.1002/mus.70025","url":null,"abstract":"Introduction/aims: Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) can occasionally emerge during treatment with tacrolimus, a commonly used immunosuppressant for solid organ transplantation, and this association is poorly recognized. We describe the clinical presentation, investigations, and disease course of a series of patients who developed CIDP during tacrolimus treatment.Methods: This is a retrospective case series of six patients with electrophysiologically confirmed CIDP (=2021 EFNS/PNS criteria) during tacrolimus use for solid organ transplantation, evaluated at two UK National Health Service (NHS) trusts between 2017 and 2023. We describe the clinical characteristics, laboratory investigations, neurophysiological features, treatment response, and association with tacrolimus treatment.Results: CIDP was diagnosed between 5 months and 13 years after initiation of tacrolimus, post cardiac (2), renal (2), lung (1), and combined kidney-pancreas (1) transplantation. All patients met diagnostic criteria for CIDP. 5/6 patients improved clinically following intravenous immunoglobulin (IVIg). 4/6 patients were switched to either sirolimus or azathioprine without evidence of active disease despite no further treatment. 2/6 patients continued tacrolimus, and both required ongoing IVIg treatment.Discussion: CIDP may be associated with tacrolimus use in organ transplantation and can occur after years of treatment. IVIg was usually effective in our cohort, and in those who switched to alternative immunosuppression, there was no evidence of active disease after initial treatment.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145075835","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}

引用次数: 0

Characterization of Autonomic Involvement in Various Subtypes of Guillain-Barré Syndrome and Association With Electrophysiological Parameters. 格林-巴勒综合征不同亚型自主神经受累的特征及其与电生理参数的关系。

IF 3.1 3区医学

Muscle & Nerve Pub Date : 2025-09-15 DOI: 10.1002/mus.70024

Pritam Majumder, Manjari Tripathi, Achal Kumar Srivastava, M V Padma Srivastava, Awadh Kishor Pandit, Divya M Radhakrishnan, V Y Vishnu, Ashish Datt Upadhyay, Animesh Das

{"title":"Characterization of Autonomic Involvement in Various Subtypes of Guillain-Barré Syndrome and Association With Electrophysiological Parameters.","authors":"Pritam Majumder, Manjari Tripathi, Achal Kumar Srivastava, M V Padma Srivastava, Awadh Kishor Pandit, Divya M Radhakrishnan, V Y Vishnu, Ashish Datt Upadhyay, Animesh Das","doi":"10.1002/mus.70024","DOIUrl":"https://doi.org/10.1002/mus.70024","url":null,"abstract":"Introduction/aims: About two-thirds of patients with Guillain-Barré Syndrome (GBS) have autonomic dysfunction. The aim of this study was to characterize autonomic system involvement in various subtypes of GBS and its association with electrophysiological parameters.Methods: This was a prospective cross-sectional study in which patients with GBS underwent autonomic function testing and nerve conduction studies along with the routine clinical history and examination. Involvement of various domains of the autonomic system was recorded by the Composite Autonomic Symptom Score-31 (COMPASS-31) at admission. Patients were classified into Miller Fisher syndrome (clinically) or demyelinating and axonal subtypes.Results: Between June 2021 and December 2022, 68 patients completed the study. At baseline, 79% had dysfunction on laboratory autonomic function tests, while only 25% had abnormal scores on COMPASS-31. Sympathetic dysfunction was the predominant abnormality, accounting for 85.7% of patients in the acute inflammatory demyelinating polyneuropathy group and 68.2% (15/22) of patients in the axonal group (acute motor axonal neuropathy and acute motor sensory axonal neuropathy). There was no association of any pattern of autonomic dysfunction with the subtype of GBS or degree of axonal involvement.Discussion: Autonomic dysfunction detected by standardized autonomic function tests can be present even in GBS patients with no dysautonomic symptoms. These tests can be done as early as first week after admission. Such patients may require close monitoring in intensive care units for clinical dysautonomia. Further longitudinal studies on this group of patients may help to identify the incidence of clinically significant autonomic dysfunction and their long-term prognosis.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065333","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}

引用次数: 0

Diabetic Neuropathies. 糖尿病神经病变。

IF 3.1 3区医学

Muscle & Nerve Pub Date : 2025-09-12 DOI: 10.1002/mus.70015

Charenya Anandan, Holli Horak, Kamakshi Patel

引用次数: 0