Neuromuscular Disorders最新文献

Congenital skeletal muscle myopathy due to the recently described digenic inheritance of TTN and SRPK3 genetic variants: a case study 由于最近描述的TTN和SRPK3遗传变异的基因遗传引起的先天性骨骼肌肌病：一个案例研究。

IF 2.8 4区医学

Neuromuscular Disorders Pub Date : 2026-05-01 Epub Date: 2026-03-02 DOI: 10.1016/j.nmd.2026.106390

Dominic Spicer , Lucas Dejong , Abhi Kulkarni , Karin S. Kassahn , Roula Ghaoui

{"title":"Congenital skeletal muscle myopathy due to the recently described digenic inheritance of TTN and SRPK3 genetic variants: a case study","authors":"Dominic Spicer , Lucas Dejong , Abhi Kulkarni , Karin S. Kassahn , Roula Ghaoui","doi":"10.1016/j.nmd.2026.106390","DOIUrl":"10.1016/j.nmd.2026.106390","url":null,"abstract":"<div><div>The recently described skeletal myopathy from dual inheritance of <em>TTN</em> and <em>SRPK3</em> genetic variants has demonstrated digenic inheritance constitutes an under-recognised burden amongst inherited neuromuscular disorders. Neuromuscular specialist input is essential to guide appropriate genetic testing for these elusive diagnoses. Here we present the first case since the initial discovery of this condition, of an adult age diagnosis of <em>TTN/SRPK3</em> congenital myopathy. Our proband achieved an adult age diagnosis but had congenital symptoms previously diagnosed ‘minimal change myopathy’ from a childhood muscle biopsy. Their presentation was phenotypically consistent with the initial cohort. He exhibited congenital limb-girdle weakness/wasting, delayed motor developmental milestones, restrictive ventilatory deficit, Achilles tendon contractures and hyperCKaemia but no evidence of cardiomyopathy. Genetic diagnosis was achieved through research-based whole-genome sequencing and targeted <em>SRPK3</em> gene review, after finding a <em>TTN</em> variant. Knowledge of these specific variants and inheritance pattern enabled diagnosis, where standard panel testing had missed it.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"62 ","pages":"Article 106390"},"PeriodicalIF":2.8,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147369869","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 importance of patient engagement in scientific research on facioscapulohumeral muscular dystrophy 患者参与面肩肱肌营养不良科学研究的重要性。

IF 2.8 4区医学

Neuromuscular Disorders Pub Date : 2026-05-01 Epub Date: 2026-01-23 DOI: 10.1016/j.nmd.2026.106358

Nicol C. Voermans (Guest Editor)

引用次数: 0

Corrigendum to “Learnings from a registry-based cohort study for spinal muscular atrophy disease” [Neuromuscular Disorders, Volume 59, February 2026, 106332] “从基于登记的脊髓性肌萎缩病队列研究中获得的经验”的更正[神经肌肉疾病，第59卷，2026年2月，106332]。

IF 2.8 4区医学

Neuromuscular Disorders Pub Date : 2026-05-01 Epub Date: 2026-03-28 DOI: 10.1016/j.nmd.2026.106412

Carla J. Jonker , Kelly Plueschke , Kieran C. Breen , Mencía de Lemus Belmonte , Laurent Servais , Patrice Verpillat , Alexandra Pacurariu

引用次数: 0

ENMC Mentoring programme 2026 ENMC辅导计划2026

IF 2.8 4区医学

Neuromuscular Disorders Pub Date : 2026-05-01 Epub Date: 2026-04-28 DOI: 10.1016/S0960-8966(26)00100-8

引用次数: 0

WMS General Information WMS一般信息

IF 2.8 4区医学

Neuromuscular Disorders Pub Date : 2026-05-01 Epub Date: 2026-04-28 DOI: 10.1016/S0960-8966(26)00096-9

引用次数: 0

A prospective, multi-center, observational study of the safety, tolerability and effectiveness of Nusinersen in adult patients with spinal muscular atrophy 一项前瞻性、多中心、观察性研究Nusinersen对成年脊髓性肌萎缩症患者的安全性、耐受性和有效性。

IF 2.8 4区医学

Neuromuscular Disorders Pub Date : 2026-05-01 Epub Date: 2025-10-24 DOI: 10.1016/j.nmd.2025.106256

Craig M. Zaidman , Crystal Proud , Bing Liao , Nassim Rad , Doreen Ho , Mary-Lynn Chu , Shafeeq Ladha , Thomas O. Crawford , Shakti Nayar , Angela Genge , Margaret Frey , Chad Heatwole , Daphne Lew

{"title":"A prospective, multi-center, observational study of the safety, tolerability and effectiveness of Nusinersen in adult patients with spinal muscular atrophy","authors":"Craig M. Zaidman , Crystal Proud , Bing Liao , Nassim Rad , Doreen Ho , Mary-Lynn Chu , Shafeeq Ladha , Thomas O. Crawford , Shakti Nayar , Angela Genge , Margaret Frey , Chad Heatwole , Daphne Lew","doi":"10.1016/j.nmd.2025.106256","DOIUrl":"10.1016/j.nmd.2025.106256","url":null,"abstract":"<div><div>Nusinersen, an antisense oligonucleotide, modulates pre-mRNA splicing to produce full length survival motor neuron protein in spinal muscular atrophy (SMA). It was approved in the US for SMA in all ages based on evidence in children. In adults, studies of nusinersen rely on real-world observational data and show stability or small improvements over time. We performed a prospective, 30 month longitudinal, observational multi-center study of adults initiating nusinersen with SMA types II/III to examine its safety, tolerability, and effectiveness. 43 participants (20 female; 14 ambulatory; 3, 17, and 23 with 2, 3, and ≥4 <em>SMN2</em> copies, respectively), mean (SD) age 37.1 (11.9) years) enrolled and completed baseline assessments. Serial assessments over 30 months showed small but not significant improvements in the six minute walk test (16.1 m), Revised Upper Limb Module (0.7), Revised Hammersmith Scale (0.8), maximal inspiratory (-2.6 cm H20) and expiratory pressure (12.3 cm H20). Muscle strength and forced vital capacity did not change. The patient reported outcome Total SMA-HI improved (-11 (95% CI: -17,-5); <em>p</em> < 0.001)). No new safety effects were identified. This study of nusinersen in adults with SMA demonstrates stability over time in contrast to the expected decline in untreated patients, with a favorable safety profile.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"62 ","pages":"Article 106256"},"PeriodicalIF":2.8,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147434391","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

What is on the agenda? About the importance of a collaborative research agenda set by Dutch neuromuscular patients, their families and the neuromuscular field 议程上有什么？关于荷兰神经肌肉患者，他们的家人和神经肌肉领域制定的合作研究议程的重要性

IF 2.8 4区医学

Neuromuscular Disorders Pub Date : 2026-05-01 Epub Date: 2026-03-09 DOI: 10.1016/j.nmd.2026.106407

C. van Esch , A. Horemans , I. de Groot , A. Lanser , S. Bos , S.A. van den Berge , E. Sterrenburg , M. Maks , M. van Maurik , R. de Haas , T. Abma , B.G van Engelen , M.W. Alsem , S.L.S. Houwen-van Opstal , N.C. Voermans

{"title":"What is on the agenda? About the importance of a collaborative research agenda set by Dutch neuromuscular patients, their families and the neuromuscular field","authors":"C. van Esch , A. Horemans , I. de Groot , A. Lanser , S. Bos , S.A. van den Berge , E. Sterrenburg , M. Maks , M. van Maurik , R. de Haas , T. Abma , B.G van Engelen , M.W. Alsem , S.L.S. Houwen-van Opstal , N.C. Voermans","doi":"10.1016/j.nmd.2026.106407","DOIUrl":"10.1016/j.nmd.2026.106407","url":null,"abstract":"<div><div>Neuromuscular disorders (NMDs) represent a heterogeneous group of conditions with substantial effects on physical functioning, participation, and quality of life throughout the lifespan. Aligning research priorities with the needs of patients, clinicians, and society is essential to ensure relevance and impact. In the Netherlands, collaboration between patients, patient organizations, clinicians and basic researchers have played a pivotal role in shaping research agendas through structured engagement of adults with NMD, and children and parents. Nationwide surveys, filled in by patients, consistently identified the need for faster and less invasive diagnostics, effective symptomatic treatments, improved quality of life, and access to new therapies. Across age groups, fatigue, mobility limitations, pain, and social participation emerged as key challenges, while children specifically emphasized inclusion in school and sports. These patient-identified priorities have informed diagnosis-specific research agendas, guided national funding strategies, and stimulated targeted initiatives focusing on rehabilitation, lifestyle interventions, and participation in physical activity. By integrating patient perspectives into national research strategies, the Dutch collaborative model demonstrates that meaningful, patient-driven agenda-setting can accelerate scientific progress while ensuring outcomes of direct relevance to those affected, and illustrates how collaborative, field-wide approaches may serve as a valuable example for research agenda-setting for other patient organizations.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"62 ","pages":"Article 106407"},"PeriodicalIF":2.8,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147797390","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

Update in Neuromuscular Disorders 2026 《神经肌肉疾病》2026年最新进展

IF 2.8 4区医学

Neuromuscular Disorders Pub Date : 2026-05-01 Epub Date: 2026-04-28 DOI: 10.1016/S0960-8966(26)00104-5

引用次数: 0

WMS Congress 2026 Hiroshima WMS大会2026广岛

IF 2.8 4区医学

Neuromuscular Disorders Pub Date : 2026-05-01 Epub Date: 2026-04-28 DOI: 10.1016/S0960-8966(26)00097-0

引用次数: 0

Longitudinal assessment of respiratory status utilising the amended Great Ormond Street Respiratory Score in treated spinal muscular atrophy type 1 children 利用经修订的大奥蒙德街呼吸评分对1型脊髓性肌萎缩症患儿的呼吸状态进行纵向评估。

IF 2.8 4区医学

Neuromuscular Disorders Pub Date : 2026-04-01 Epub Date: 2026-02-05 DOI: 10.1016/j.nmd.2026.106368

Lisa Edel , Georgia Stimpson , Vasileios Patelis , Elaine Chan , Mariacristina Scoto , Francesco Muntoni , Giovanni Baranello

{"title":"Longitudinal assessment of respiratory status utilising the amended Great Ormond Street Respiratory Score in treated spinal muscular atrophy type 1 children","authors":"Lisa Edel , Georgia Stimpson , Vasileios Patelis , Elaine Chan , Mariacristina Scoto , Francesco Muntoni , Giovanni Baranello","doi":"10.1016/j.nmd.2026.106368","DOIUrl":"10.1016/j.nmd.2026.106368","url":null,"abstract":"<div><div>Spinal muscular atrophy type 1 phenotypes have changed since the introduction of disease modifying therapies. The Great Ormond Respiratory Score has been used to assess respiratory function in children with spinal muscular atrophy. This paper presents an updated version of the score and aims to describe preliminary data reviewing the two-year changes of respiratory status in a cohort of spinal muscular atrophy type 1 patients treated with monotherapy or sequential disease modifying treatments. Patients were assessed using the amended Great Ormond Respiratory score at baseline, 6 months, 12 months and 24 months. 59 patients were reviewed. In total, 32 first initiated nusinersen therapy, 16 first initiated onasemnogene abeparvovec and 11 first initiated risdiplam therapy. There was a significant difference in baseline Great Ormond Respiratory Score between the nusinersen group and the onasemnogene abeparvovec group (<em>p</em> = 0.002). Risdiplam data is limited and is identified as preliminary. The data identifies treatment prior to 6 weeks of age stabilise at a lower score, with this being impacted by age of treatment. Those treated after one year show worse scores but stabilise. Despite the switching between disease modifying treatments, the Great Ormond Respiratory Score is a useful and easy-to-use clinical outcome measure which can demonstrate change in respiratory status over longitudinal review.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"61 ","pages":"Article 106368"},"PeriodicalIF":2.8,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146166114","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