Neuromuscular Disorders最新文献_第3页

WMS 2025 Vienna Congress Flyer WMS 2025维也纳会议飞行器

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-04-01 DOI: 10.1016/S0960-8966(25)00076-8

引用次数: 0

281st ENMC international workshop: 2nd ENMC workshop on exercise training in muscle diseases; towards consensus-based recommendations on exercise prescription and outcome measures. Hoofddorp, The Netherlands, 4-6 October 2024 第281届ENMC国际讲习班：第2届ENMC肌肉疾病运动训练讲习班；以共识为基础的运动处方和结果测量建议。荷兰Hoofddorp， 2024年10月4日至6日

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-04-01 DOI: 10.1016/j.nmd.2025.105318

Eric Lukas Voorn , Alejandro Lucia , John Vissing , 281st ENMC workshop study group

{"title":"281st ENMC international workshop: 2nd ENMC workshop on exercise training in muscle diseases; towards consensus-based recommendations on exercise prescription and outcome measures. Hoofddorp, The Netherlands, 4-6 October 2024","authors":"Eric Lukas Voorn , Alejandro Lucia , John Vissing , 281st ENMC workshop study group","doi":"10.1016/j.nmd.2025.105318","DOIUrl":"10.1016/j.nmd.2025.105318","url":null,"abstract":"<div><div>The 281st ENMC workshop on exercise in muscle diseases was held on October 4–6, 2024. The workshop study group included people with lived experience, healthcare professionals and researchers from different disciplines. To facilitate improved application of exercise in daily practice, this workshop aimed to reach a consensus on recommendations for exercise prescription and outcome measures. There were sessions on 1) scientific evidence on exercise prescription and current practice (based on international online surveys of people with muscle diseases and healthcare professionals), 2) outcome measures, and 3) long-term continuation of exercise. Based on the scientific evidence, survey results and group discussions during the workshop sessions, a strong consensus (all attendees agreed) was reached that personalized exercise is safe and beneficial for people with muscle diseases and is recommended. Recommendations were formulated for the frequency, intensity, time, and type of aerobic and resistance exercise, as well as potential outcome measures for future studies.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"49 ","pages":"Article 105318"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143748474","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

ENMC Mid-Career Mentoring Programme ENMC职业中期辅导计划

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-04-01 DOI: 10.1016/S0960-8966(25)00074-4

引用次数: 0

276th ENMC workshop: recommendations on optimal diagnostic pathway and management strategy for patients with acute rhabdomyolysis worldwide. 15th-17th March 2024, Hoofddorp, The Netherlands 第276届ENMC研讨会：关于全球急性横纹肌溶解患者最佳诊断途径和管理策略的建议。2024年3月15日至17日，荷兰胡夫多普

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-30 DOI: 10.1016/j.nmd.2025.105344

Nick Kruijt , Pascal Laforet , John Vissing , Salman Bhai , Mads Godtfeldt Stemmerik , Felix Kleefeld , Nicol C. Voermans

{"title":"276th ENMC workshop: recommendations on optimal diagnostic pathway and management strategy for patients with acute rhabdomyolysis worldwide. 15th-17th March 2024, Hoofddorp, The Netherlands","authors":"Nick Kruijt , Pascal Laforet , John Vissing , Salman Bhai , Mads Godtfeldt Stemmerik , Felix Kleefeld , Nicol C. Voermans","doi":"10.1016/j.nmd.2025.105344","DOIUrl":"10.1016/j.nmd.2025.105344","url":null,"abstract":"<div><div>The 276th ENMC Workshop on rhabdomyolysis brought together 21 experts to address the compelling need for standardized guidelines on the clinical approach of rhabdomyolysis. There was a general agreement that a diagnosis of rhabdomyolysis require that <strong>1)</strong> clinical symptoms include severe muscle swelling, weakness and/or myalgia; <strong>2)</strong> serum CK-levels exceed 10,000 IU/L in case of exertional, and >5000 IU/L in non-exertional rhabdomyolysis; <strong>3)</strong> CK-levels reaching a maximum 1–4 days after the event and normalizing to baseline within 1–2 weeks of rest. In case of an underlying neuromuscular condition, CK-levels should exceed 5–10 times the patient's baseline level. Treatment should be initiated only in case of high risk on acute kidney injury, which can be predicted by the McMahon score. Furthermore, recommendations on performing genetic testing were formulated and the use of the ‘RHABDO’- acronym was generally agreed upon as a tool to aid clinicians in deciding which patients require genetic testing. Moreover, recommendations on follow-up were made, with a particular emphasis on evaluation of physical and psychological sequelae. Patient representatives present during the workshop emphasized the importance of the current recommendations for future clinical guidelines on rhabdomyolysis.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"50 ","pages":"Article 105344"},"PeriodicalIF":2.7,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143821333","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

Clinical and genetic characteristics based on the Japanese patient registry for facioscapulohumeral muscular dystrophy: a nationwide analysis 基于日本面部肩胛骨-肱骨肌萎缩症患者登记的临床和遗传特征：一项全国性的分析

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-28 DOI: 10.1016/j.nmd.2025.105346

Tsuyoshi Matsumura , Hiroya Hashimoto , Hotake Takizawa , Wakako Yoshioka , Madoka Mori-Yoshimura , Yoshihiko Saito , Ichizo Nishino , Harumasa Nakamura

{"title":"Clinical and genetic characteristics based on the Japanese patient registry for facioscapulohumeral muscular dystrophy: a nationwide analysis","authors":"Tsuyoshi Matsumura , Hiroya Hashimoto , Hotake Takizawa , Wakako Yoshioka , Madoka Mori-Yoshimura , Yoshihiko Saito , Ichizo Nishino , Harumasa Nakamura","doi":"10.1016/j.nmd.2025.105346","DOIUrl":"10.1016/j.nmd.2025.105346","url":null,"abstract":"<div><div>The Japanese patient registry for facioscapulohumeral muscular dystrophy (FSHD) was launched in September 2020, enrolling patients genetically confirmed to have FSHD. This study aimed to analyze clinical and genetic characteristics based on data from the Japanese FSHD registry. Core items were collected from the TREAT-NMD FSHD dataset, version 1.0. By the end of June 2024, over 200 patients were enrolled, with 161 successfully registered after confirmation. Among them, 156 had FSHD1 and 5 had FSHD2; 81 had affected family members; 116 were ambulatory; 73 had respiratory dysfunction; 22 required mechanical ventilation; 8 had cardiac dysfunction; 4 had retinopathy; and 22 had hearing loss. In patients with FSHD1, the median number of D4Z4 repeats was four, with a low proportion of long repeats. D4Z4 repeat counts influenced age at disease onset, site-specific muscle weakness onset, respiratory function, retinopathy, and hearing loss. Notably, female patients were more likely to have early facial weakness and hearing loss. Our data suggest population diversity in D4Z4 repeat numbers and sex differences. We aim to collaborate with patient groups to enroll more participants and gather more accurate epidemiological data, including cases of FSHD2. Additionally, we plan to investigate racial differences through international collaboration.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"50 ","pages":"Article 105346"},"PeriodicalIF":2.7,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143799861","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

Evaluation of dynamin 2 knockdown as a therapeutic strategy for RYR1 related myopathy 动力蛋白2敲低作为RYR1相关肌病治疗策略的评估

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-28 DOI: 10.1016/j.nmd.2025.105339

Paula Onofre-Oliveira , Linda Groom , Chen Liang , Belinda Cowling , Mohammad M. Ghahramani-Seno , Robert T. Dirksen , James J. Dowling

{"title":"Evaluation of dynamin 2 knockdown as a therapeutic strategy for RYR1 related myopathy","authors":"Paula Onofre-Oliveira , Linda Groom , Chen Liang , Belinda Cowling , Mohammad M. Ghahramani-Seno , Robert T. Dirksen , James J. Dowling","doi":"10.1016/j.nmd.2025.105339","DOIUrl":"10.1016/j.nmd.2025.105339","url":null,"abstract":"<div><div>RYR1 congenital myopathies, due to pathogenic variants in the <em>RYR1</em> gene, are the most common subtype of nondystrophic myopathy. At present, there are no therapies for this condition. RYR1 myopathies share features with centronuclear myopathy (CNM), as RYR1 dysfunction is an important common pathologic endpoint of these conditions. Knockdown of dynamin 2 (DNM2) using an antisense oligonucleotide based strategy has shown efficacy in mouse models of CNM, including restoration of RYR1 function. Based on this, we sought to test whether Dnm2 knockdown could also ameliorate the phenotype of a mouse model of recessive RYR1 congenital myopathy, which exhibits a marked reduction in <em>Ryr1</em> expression and function. To accomplish this, we administered an antisense oligonucleotide (ASO) targeting Dnm2 RNA or a scrambled ASO to a mouse model of the disease, and then measured the impact on multiple functional and pathologic endpoints. While we successfully achieved Dnm2 RNA knockdown with this treatment, no benefit was observed in any parameters measured. We thus conclude that lowering DNM2 transcript levels are unlikely to be a promising strategy for treating RYR1 congenital myopathy.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"50 ","pages":"Article 105339"},"PeriodicalIF":2.7,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143864942","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

Therapeutic sphingosine-1-phosphate receptor modulation by repurposing fingolimod (FTY720) leads to mitigated neuropathy and improved clinical outcome in a mouse model for Charcot-Marie-Tooth 1X disease 在charco - marie - tooth 1X疾病小鼠模型中，通过重新利用fingolimod （FTY720）进行治疗性鞘氨醇-1-磷酸受体调节可减轻神经病变并改善临床结果

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-25 DOI: 10.1016/j.nmd.2025.105345

Xidi Yuan , Dennis Klein , Anna-Maria Maier , Rudolf Martini

{"title":"Therapeutic sphingosine-1-phosphate receptor modulation by repurposing fingolimod (FTY720) leads to mitigated neuropathy and improved clinical outcome in a mouse model for Charcot-Marie-Tooth 1X disease","authors":"Xidi Yuan , Dennis Klein , Anna-Maria Maier , Rudolf Martini","doi":"10.1016/j.nmd.2025.105345","DOIUrl":"10.1016/j.nmd.2025.105345","url":null,"abstract":"<div><div>Previous studies have shown that both the innate and adaptive immune systems foster progression of neuropathy and clinical symptoms in a mouse model for Charcot-Marie-Tooth 1X disease. Here we demonstrate a possible therapeutic translation of these findings using the clinically approved sphingosine-1-phosphate receptor modulator fingolimod (FTY720) in <em>connexin32</em>-deficient mice mimicking Charcot-Marie-Tooth 1X disease.</div><div>Treatment with FTY720 prevented an increase of CD8+ and CD4+ T-lymphocyte numbers in both femoral quadriceps nerve as well as in ventral spinal roots. While macrophages of ventral spinal roots show a similar, albeit non-significant trend, macrophages from quadriceps nerve are not reduced upon treatment. On the histopathological level, axonopathic changes were reduced in ventral spinal roots, but not in quadriceps nerves upon treatment. Electrophysiological recordings displayed improved nerve conduction parameters upon FTY720 treatment, while clinically, FTY720 treatment ameliorated distinct parameters of motor performance and grip strength. We suggest that targeting the adaptive immune system might be a pharmacological treatment option for mitigating disease burden particularly in severe cases of Charcot-Marie-Tooth 1X.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"50 ","pages":"Article 105345"},"PeriodicalIF":2.7,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143834670","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

280th ENMC International Workshop: The ERN EURO-NMD mitochondrial diseases working group; diagnostic criteria and outcome measures in primary mitochondrial myopathies. Hoofddorp, the Netherlands, 22-24 November 2024 第280届ENMC国际研讨会：ERN EURO-NMD线粒体疾病工作组；原发性线粒体肌病的诊断标准和结果测量。2024年11月22日至24日，荷兰胡夫多普

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-22 DOI: 10.1016/j.nmd.2025.105340

Michelangelo Mancuso , Piervito Lopriore , Luisa Semmler , Cornelia Kornblum , the 280th ENMC workshop study group

{"title":"280th ENMC International Workshop: The ERN EURO-NMD mitochondrial diseases working group; diagnostic criteria and outcome measures in primary mitochondrial myopathies. Hoofddorp, the Netherlands, 22-24 November 2024","authors":"Michelangelo Mancuso , Piervito Lopriore , Luisa Semmler , Cornelia Kornblum , the 280th ENMC workshop study group","doi":"10.1016/j.nmd.2025.105340","DOIUrl":"10.1016/j.nmd.2025.105340","url":null,"abstract":"<div><div>The 280th ENMC International Workshop, held in Hoofddorp, The Netherlands, November 22–24, 2024, focused on primary mitochondrial myopathies (PMM). The workshop aimed to update diagnostic criteria, outcome measures, and explore new digital health technologies (DHTs) in the context of clinical trial design and conduct for PMM. Key points discussed included: (i) PMM definition and phenotypes; PMM are genetically determined mitochondrial disorders with prominent skeletal muscle involvement with two major phenotypes: mitochondrial myopathy (MiMy) either with or without chronic progressive external ophthalmoplegia (PEO); (ii) diagnostic criteria, with emphasis on the importance of genetic testing and muscle biopsy for accurate diagnosis; (iii) outcome measures: consensus on clinical scales, functional tests, performance measures, and patient-reported outcome measures (PROMs) for both adults and children; (iv) digital health technologies, with exploration of wearable and non-wearable technologies for gait analysis, physical activity monitoring, and other assessments; (v) potential and limitations of biomarkers for PMM diagnosis and monitoring. The workshop concluded with a strong consensus on the updated definition of PMM, its phenotypes, and the recommended outcome measures for clinical studies. Further research is needed to validate digital health technologies and biomarkers for PMM.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"50 ","pages":"Article 105340"},"PeriodicalIF":2.7,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143859835","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

Identifying novel AGRN variants in congenital myasthenic syndrome: insights from three Iranian families 鉴定先天性肌无力综合征中新的AGRN变异：来自三个伊朗家庭的见解

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-16 DOI: 10.1016/j.nmd.2025.105342

Hadi Gharebaghian , Aida Ghasemi , Omid Hesami , Shahriar Nafissi

{"title":"Identifying novel AGRN variants in congenital myasthenic syndrome: insights from three Iranian families","authors":"Hadi Gharebaghian , Aida Ghasemi , Omid Hesami , Shahriar Nafissi","doi":"10.1016/j.nmd.2025.105342","DOIUrl":"10.1016/j.nmd.2025.105342","url":null,"abstract":"<div><div>Congenital myasthenic syndromes (CMS) are rare inherited disorders characterized by defective neuromuscular transmission, with the <em>AGRN</em> gene recognized as a notable yet infrequent cause of CMS. This study aims to delineate the clinical and molecular characteristics of three Iranian patients diagnosed with <em>AGRN</em>-related CMS. Whole exome sequencing (WES) was performed, leading to the identification of three novel variants in the <em>AGRN</em> gene. One patient had a homozygous indel variant, another patient had a missense mutation in a homozygous state, and a third patient had two missense variants that were inherited in a compound heterozygous manner. Each patient exhibited distinct clinical presentations ranging from progressive weakness, fatigue, to muscle atrophy and this heterogeneous clinical presentation contributed to diagnostic delays. Electrophysiological studies confirmed neuromuscular junction disorder through significant decremental responses after repetitive nerve stimulation. Treatment outcomes varied, demonstrating the complexity of therapeutic efficacy among patients with agrin mutations. These findings underscore the phenotypic diversity associated with <em>AGRN</em> mutations and emphasize the challenges in the diagnosis and management of CMS. This research enhances understanding of the clinical and molecular landscape of <em>AGRN</em>-related CMS in Iranian patients and highlights the importance of tailored therapeutic strategies.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"49 ","pages":"Article 105342"},"PeriodicalIF":2.7,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143714727","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

Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland 晚发型多酰基辅酶a脱氢酶缺乏症样病症：来自苏格兰西部的病例系列

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-15 DOI: 10.1016/j.nmd.2025.105343

Taylor Watson-Fargie , Autumn Coomber , Rachel Edwards , Marianne Barr , Kathryn Brennan , Elaine Fletcher , Eve Miller-Hodges , Dawn O'Sullivan , Kirsty Stewart , Sila Hopton , Langping He , Charlotte L Alston , Robert W Taylor , Ana Töpf , Volker Straub , William Stewart , Cheryl Longman , Maria E Farrugia

{"title":"Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland","authors":"Taylor Watson-Fargie , Autumn Coomber , Rachel Edwards , Marianne Barr , Kathryn Brennan , Elaine Fletcher , Eve Miller-Hodges , Dawn O'Sullivan , Kirsty Stewart , Sila Hopton , Langping He , Charlotte L Alston , Robert W Taylor , Ana Töpf , Volker Straub , William Stewart , Cheryl Longman , Maria E Farrugia","doi":"10.1016/j.nmd.2025.105343","DOIUrl":"10.1016/j.nmd.2025.105343","url":null,"abstract":"<div><div>Multiple-acyl-CoA-dehydrogenase deficiency (MADD) is a rare metabolic disorder affecting fatty acid and amino acid metabolism. Local experience and evolving literature highlights a paucity of genetically confirmed cases. A retrospective analysis of patients attending the West of Scotland neuromuscular service with a working diagnosis of late-onset MADD was undertaken. Nineteen cases were identified with median onset age of 52 years and female predominance. 8/19 presented with rhabdomyolysis and 11/19 with a subacute myopathy over mean 12.6 months. 14/19 had evidence of a provoking factor prior to clinical presentation and 16/19 had current sertraline use. All cases had abnormal acylcarnitine profiles in keeping with a MADDlike profile and abnormal skeletal muscle biopsies. Abnormal lipid accumulation was seen in 14/19, ranging from mild increase in lipid droplet size to gross lipid excess in seven cases. 4/19 were heterozygous for likely pathogenic ETFDH gene variants; no second variants were identified within the limits of testing available. All showed variable improvement following riboflavin therapy, advice on nutrition and advice on sertraline discontinuation. We suggest a late-onset MADD-like myopathy is much more common in the cohort than primary genetic MADD. Non-genetic and acquired factors may be causative, in keeping with the evolving literature.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"49 ","pages":"Article 105343"},"PeriodicalIF":2.7,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143726143","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