Neuromuscular Disorders最新文献_第9页

Italian survey on evolving SMA care with disease-modifying therapies: a consensus workshop on nutrition, swallowing, respiratory and rehabilitation care 意大利关于使用疾病改变疗法不断发展的 SMA 护理的调查：营养、吞咽、呼吸和康复护理共识研讨会

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-01-27 DOI: 10.1016/j.nmd.2025.105278

Stefania Corti , Valeria Sansone , Ilaria Bitetti , Noemi Brolatti , Giulio Gadaleta , Agata Katia Patanella , Giorgia Coratti , Eugenio Mercuri , on behalf of the SMAkers working group

{"title":"Italian survey on evolving SMA care with disease-modifying therapies: a consensus workshop on nutrition, swallowing, respiratory and rehabilitation care","authors":"Stefania Corti , Valeria Sansone , Ilaria Bitetti , Noemi Brolatti , Giulio Gadaleta , Agata Katia Patanella , Giorgia Coratti , Eugenio Mercuri , on behalf of the SMAkers working group","doi":"10.1016/j.nmd.2025.105278","DOIUrl":"10.1016/j.nmd.2025.105278","url":null,"abstract":"<div><div>The landscape of spinal muscular atrophy care is evolving with the emergence of disease-modifying therapies and newborn screening programs, leading to new phenotypes and changing patient needs. This necessitates a reevaluation of existing care recommendations to address new challenges and opportunities in spinal muscular atrophy management. To better evaluate how different areas of care have evolved since the advent of disease-modifying therapies, we focused on highlighting areas where existing practices remain valid, those in which changes are needed and supported by evidence, and those in which further research or experience is required. The initiative brought together experts from the Italian spinal muscular atrophy community, initially involving a survey of care practices and a two-day event with workshops on specific topics. The results of the survey and focus groups provide the experts' opinions of the changing aspects of care for key domains: nutrition and bone health, swallowing, respiratory function, and rehabilitation and management of spine deformities. Suggestions were provided, identifying immediate actionable changes and areas requiring further investigation. This framework represents an initial step towards updating care recommendations in the era of novel therapies. It offers a critical view of the evolving care landscape, balancing established practices with emerging evidence and identifying key areas for future research.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"48 ","pages":"Article 105278"},"PeriodicalIF":2.7,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143182423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

UPDATE IN NEUROMUSCULAR DISORDERS 神经肌肉疾病最新进展

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.nmd.2025.105314

引用次数: 0

Association between age at loss of ambulation and cardiac function in adults with Duchenne muscular dystrophy 杜氏肌营养不良症患者行走能力丧失年龄与心功能的关系。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.nmd.2025.105276

Marianela Schiava , John P Bourke , Jordi Díaz-Manera , Anna Johnson , Maha A Elseed , Giorgio Tasca , Kadhim Kadhim , Volker Straub , Chiara Marini Bettolo , Michela Guglieri

{"title":"Association between age at loss of ambulation and cardiac function in adults with Duchenne muscular dystrophy","authors":"Marianela Schiava , John P Bourke , Jordi Díaz-Manera , Anna Johnson , Maha A Elseed , Giorgio Tasca , Kadhim Kadhim , Volker Straub , Chiara Marini Bettolo , Michela Guglieri","doi":"10.1016/j.nmd.2025.105276","DOIUrl":"10.1016/j.nmd.2025.105276","url":null,"abstract":"<div><div>Cardiomyopathy is a common co-morbidity in individuals with Duchenne muscular dystrophy (DMD). This retrospective single centre study investigated the relationship between age at loss of ambulation (LOA) and late stage left ventricular ejection fraction (LVEF) in 84 individuals (> 16 years old) with DMD taking glucocorticoid and ACE inhibitors treatment. Regression analyses showed a positive correlation between later age at LOA and higher LVEF in adulthood (linear regression estimate 1.49, 95 % CI: 0.13–2.84, <em>p</em> = 0.03). Each additional year of ambulation increased the odds of displaying a higher LVEF category (LVEF 40 %, 40 – 50 % or 50 %) by 35 % (<em>p</em> = 0.003). Sensitivity models excluding cardioprotective genotypes (absence of Dp116 isoform) and mild motor phenotypes (out of frame deletions amenable to skip exon 44 and 45) confirmed this association while models including age at respiratory impairment did not improve the model. Individuals who lost ambulation before age 11.92 (ROC AUC 0.73, 95 % CI: 0.60–0.85) reached a LVEF <40 % 5.21 years earlier than those who lost ambulation after that age (adjusted restricted mean survival time 19.08 vs 24.29 years, <em>p</em> < 0.001). These findings may suggest that prolonging ambulation does not impact cardiac function adversely in advance stages of DMD.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"46 ","pages":"Article 105276"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Vienna WMS 2025 维也纳WMS 2025

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.nmd.2025.105303

引用次数: 0

WMS General Information WMS一般信息

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.nmd.2025.105304

引用次数: 0

Commentary from the editor 编辑评论

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.nmd.2024.105265

Anders Oldfors (Editor-in-Chief)

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Chronic pain as a presenting feature of dysferlinopathy 慢性疼痛是异ferlin病的一个表现特征。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.nmd.2024.105269

Lucia Sanchez - Casado , Teresinha Evangelista , Juliette Nectoux , Camille Verebi , Tanya Stojkovic

{"title":"Chronic pain as a presenting feature of dysferlinopathy","authors":"Lucia Sanchez - Casado , Teresinha Evangelista , Juliette Nectoux , Camille Verebi , Tanya Stojkovic","doi":"10.1016/j.nmd.2024.105269","DOIUrl":"10.1016/j.nmd.2024.105269","url":null,"abstract":"<div><div>Dysferlinopathies, caused by mutations in the dysferlin gene <em>(DYSF)</em> encoding the dysferlin protein, are a clinically heterogeneous group of autosomal recessive muscular dystrophies whose phenotypic spectrum is still evolving. Here we described a patient reporting diffuse muscular pain non related to physical exercise, mimicking fibromyalgic syndrome. Electroneuromyography was normal. Magnetic resonance imaging (MRI) of skeletal muscles found fatty replacement on T1-weighted and hyperintensity on T2-weighted and short tau inversion recovery (STIR) sequences in the adductor magnus, the vastus medialis, the gastrocnemius lateralis and medialis. A significant decrease in dysferlin expression was observed by immunohistochemistry in the muscle biopsy from the deltoid, which was confirmed by Western blot (WB) analysis. Genetic testing confirmed the diagnosis of dysferlinopathy with the presence of two heterozygous variants. We report a new clinical presentation with confounding features for dysferlinopathy, posing a diagnostic dilemma and widening the clinical spectrum of dysferlin myopathies.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"46 ","pages":"Article 105269"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142971137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

ENMC Themed Workshop announcement ENMC主题工作坊公告

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.nmd.2025.105301

引用次数: 0

The relationship between patient-reported and clinician-assessed outcome measures in Inclusion body myositis - insights from a retrospective cohort study 包涵体肌炎患者报告和临床评估结果之间的关系——来自回顾性队列研究的见解。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.nmd.2024.105272

Madeline Schopp , Kelly Beer , Ian Cooper , Kathryn Hird , Althea Doverty , Annik Panicker , Katie Schütze , Anna Brusch , Merrilee Needham

{"title":"The relationship between patient-reported and clinician-assessed outcome measures in Inclusion body myositis - insights from a retrospective cohort study","authors":"Madeline Schopp , Kelly Beer , Ian Cooper , Kathryn Hird , Althea Doverty , Annik Panicker , Katie Schütze , Anna Brusch , Merrilee Needham","doi":"10.1016/j.nmd.2024.105272","DOIUrl":"10.1016/j.nmd.2024.105272","url":null,"abstract":"<div><div>Inclusion body myositis (IBM) is an inflammatory myopathy, characterised by slow progression of weakness, skeletal muscle atrophy, and heterogeneous clinical presentation. This variability in disease progression and presentation complicates tracking of clinical progress and intervention response in clinical trials, presenting challenges in identifying reliable outcome measures. We aimed to identify the most useful suite of clinician-assessed and patient-reported outcome measures (PROMs) for use in clinical practice and trials from a selection of the most commonly used outcome measures in IBM. We retrospectively analysed clinician-assessed outcome measures (manual muscle testing (MMT8, MMT12)), right- and left-handed grip strength, modified timed up and go (mTUG), two-minute walk test (2MWT); a clinician-administered patient-reported tool (IBM Functional Rating Scale (IBMFRS)); and PROMs including the eating assessment tool (EAT-10), and neuromuscular symptom score (NSS) from 20 participants attending a single specialist myositis clinic in Perth, Australia. Correlation analysis revealed significant correlations between the IBMFRS, MMT8, MMT12, mTUG and 2MWT (<em>p</em> < 0.05). The NSS strongly correlated with the MMT8, MMT12 and 2MWT (<em>p</em> < 0.05). Univariate regression analyses revealed that 2MWT, MMT12 and mTUG were significant predictors of the IBMFRS and NSS, and backward stepwise linear regression highlighted that the 2MWT was a significant positive predictor for the IBMFRS (<em>p</em> < 0.001). Overall, we concluded that the IBMFRS, NSS, 2MWT and mTUG models were the best predictors of patient-perceived physical function in IBM.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"46 ","pages":"Article 105272"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142971371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Holter electrocardiography findings in Fukuyama congenital muscular dystrophy 福山先天性肌营养不良症的动态心电图表现。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.nmd.2024.105273

Ryo Sugiyama , Eri Takeshita , Yuko Shimizu-Motohashi , Hirofumi Komaki

引用次数: 0