Neuromuscular Disorders最新文献_第5页

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}

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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

Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review 评估脊髓性肌萎缩症的疾病进展，目前的差距和机会：叙述性回顾

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-14 DOI: 10.1016/j.nmd.2025.105341

R Muni-Lofra , G Coratti , T Duong , J Medina-Cantillo , M Civitello , A Mayhew , R Finkel , E Mercuri , C Marini-Bettolo , F Muntoni

{"title":"Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review","authors":"R Muni-Lofra , G Coratti , T Duong , J Medina-Cantillo , M Civitello , A Mayhew , R Finkel , E Mercuri , C Marini-Bettolo , F Muntoni","doi":"10.1016/j.nmd.2025.105341","DOIUrl":"10.1016/j.nmd.2025.105341","url":null,"abstract":"<div><div>Spinal Muscular Atrophy is a genetic disorder causing muscle atrophy and progressive weakness. People living with the condition can have a significant heterogenous phenotype ranging from arrest of motor development to mild impairment. Assessing disease severity has been done using a range of outcome measures that can be classified by body structure or function, by activities or by participation. Functional outocome measures can be generic measures, used to compare individuals or populations against general norms, or disease-specific measures designed to fit disease characteristics. Outcome measures assessing participation are primarily used to capture patients' perceptions of health-related quality of life, daily activity abilities, caregiver burden, and the impact of physical symptoms like fatigue or pain. When assessing disease progression, often the focus on functional abilities has served as an overall indicator of change. With the appearance of disease modifying therapies and the need to evaluate the impact that they had in the course of the disease, new requirements for the existing assessments measure had appeared. The current available toolkit is able to capture a significant spectrum of both, natural history and effect of new treatments but the increased survival, changes in fatigue, bulbar function and others will benefit from further assessment.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"49 ","pages":"Article 105341"},"PeriodicalIF":2.7,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143686566","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

The widening genetic and myopathologic spectrum of congenital myopathies (CMYOs): a narrative review 先天性肌病（CMYOs）的遗传和病理谱的扩大：叙述回顾

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-07 DOI: 10.1016/j.nmd.2025.105338

Marion Onnée , Edoardo Malfatti

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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 : 2025-03-01 DOI: 10.1016/S0960-8966(25)00053-7

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Vienna WMS 2025 维也纳WMS 2025

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-01 DOI: 10.1016/S0960-8966(25)00054-9

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WMS General Information WMS一般信息

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-01 DOI: 10.1016/S0960-8966(25)00056-2

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

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-01 DOI: 10.1016/j.nmd.2025.105337

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Fluoroscopic guidance for intrathecal delivery of nusinersen in pediatric patients with spinal muscular atrophy and complex spines 脊髓性肌萎缩症和复杂脊柱患儿鞘内施药的透视指导

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-03-01 DOI: 10.1016/j.nmd.2025.105336

Shany Lando - Dotan , Eliyahu Perlow , Vered Shkalim Zemer , Hagit Levine , Elchanan Bruckheimer , Yelena Tzeitlin , Tamar Steinberg , Yoram Nevo , Tzipora Shochat , Sharon Aharoni

{"title":"Fluoroscopic guidance for intrathecal delivery of nusinersen in pediatric patients with spinal muscular atrophy and complex spines","authors":"Shany Lando - Dotan , Eliyahu Perlow , Vered Shkalim Zemer , Hagit Levine , Elchanan Bruckheimer , Yelena Tzeitlin , Tamar Steinberg , Yoram Nevo , Tzipora Shochat , Sharon Aharoni","doi":"10.1016/j.nmd.2025.105336","DOIUrl":"10.1016/j.nmd.2025.105336","url":null,"abstract":"<div><div>The introduction of nusinersen revolutionized the treatment of spinal muscular atrophy (SMA). However, nusinersen is administered by interlaminar intrathecal injection which is challenging in patients with severe scoliosis, a common comorbidity of advanced SMA. This study evaluated the technical benefits of fluoroscopic guidance of intrathecal nusinersen administration in complex SMA patients with or without a fixation device. The cohort included 12 patients aged 10–20 years (total 124 injections). The total success rate was 99 %, with failure to complete only one out of 124 procedures. Demographic characteristics were diverse. Mean age at first injection was 14.2 years. Mean duration of radiation exposure was 77 s; mean dose area product was 2.32 Gycm<sup>2</sup>; and mean cumulative air kerma was 20.91mGy. Adverse events included post-dural-puncture headache (4.8 % of procedures), mostly mild and self-limited, and one allergic reaction. Treatment was discontinued in 2 patients because of difficult intrathecal access, and in 2 for reasons unrelated to the injection technique. Fluoroscopy-guided nusinersen administration is a feasible option for patients with SMA and complex access. Success depends on proper patient positioning and expertise of the interventional radiologist. Radiation exposure is lower than with other techniques. Larger prospective studies are needed to confirm these findings.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"49 ","pages":"Article 105336"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143686567","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}

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