Neuromuscular Disorders最新文献_第2页

Two-year Risdiplam treatment in adults with spinal muscular atrophy: improvements in motor and respiratory function, quality of life and fatigue 成人脊髓性肌萎缩症患者接受两年瑞斯地普兰治疗：改善运动和呼吸功能、生活质量和疲劳

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-05-28 DOI: 10.1016/j.nmd.2025.105397

Louise Iterbeke , Kristl G. Claeys

{"title":"Two-year Risdiplam treatment in adults with spinal muscular atrophy: improvements in motor and respiratory function, quality of life and fatigue","authors":"Louise Iterbeke , Kristl G. Claeys","doi":"10.1016/j.nmd.2025.105397","DOIUrl":"10.1016/j.nmd.2025.105397","url":null,"abstract":"<div><div>Disease-modifying treatments in spinal muscular atrophy (SMA) are emerging. Risdiplam (Evrysdi®) has shown promise in improving motor function in patients with SMA. However, long-term efficacy and safety data in adult SMA patients are limited. Eighteen treatment-naive adult patients with SMA types 2, 3, or 4 received Risdiplam for 24 months. Strength and motor function were assessed through manual muscle testing, hand grip strength, key and tip pinch strength, Motor Function Measure-32 (MFM-32), Revised Upper Limb Module (RULM), Functional Oral Intake Scale, and Neuromuscular Disease Swallowing Status Scale. Patient Reported Outcome Measures included SF-36 quality of life scale, Fatigue Severity Scale, Sydney Swallow Questionnaire, and SMA Independence Scale. Forced Vital Capacity (FVC) and Peak Expiratory Flow (PEF) were assessed over 24 months and analysed retrospectively. Motor function significantly improved, with MFM-32 scores increasing by 2.3 % and 2.6 % at 12 and 24 months (<em>p</em> < 0.01). RULM scores improved significantly only after 12 months (1 point; <em>p</em> = 0.02). FVC remained stable in Risdiplam-treated adult patients, deviating from the anticipated decline calculated from their retrospective data. PEF showed significant improvement after 24 months (6.9 %; <em>p</em> = 0.03). Improvements in quality of life were observed, along with a reduction in fatigue and dysphagia. The safety profile was favorable.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"52 ","pages":"Article 105397"},"PeriodicalIF":2.7,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144231240","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

Myositis associated with antimitochondrial autoantibodies presenting with early respiratory failure 肌炎与抗线粒体自身抗体相关，表现为早期呼吸衰竭

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-05-27 DOI: 10.1016/j.nmd.2025.105395

Kentaro Kawama , Shinsuke Tobisawa , Akinori Uruha , Satoko Uruha , Hirotake Nishimura , Hiromi Onizuka , Kenta Masui , Saeko Yoshizawa , Tomoko Yamamoto , Takashi Komori , Keisuke Ishizawa , Kazushi Takahashi

{"title":"Myositis associated with antimitochondrial autoantibodies presenting with early respiratory failure","authors":"Kentaro Kawama , Shinsuke Tobisawa , Akinori Uruha , Satoko Uruha , Hirotake Nishimura , Hiromi Onizuka , Kenta Masui , Saeko Yoshizawa , Tomoko Yamamoto , Takashi Komori , Keisuke Ishizawa , Kazushi Takahashi","doi":"10.1016/j.nmd.2025.105395","DOIUrl":"10.1016/j.nmd.2025.105395","url":null,"abstract":"<div><div>Myositis associated with antimitochondrial M2 antibodies (AMA) is a distinct subtype of inflammatory myopathy characterized by axial muscle weakness and, occasionally, respiratory failure. This report highlights two cases involving patients presenting with severe respiratory failure while ambulant. Patient 1: An 82-year-old man was referred to our hospital for respiratory failure and truncal muscle weakness. Shortly after hospitalization, the patient succumbed to respiratory failure. Autopsy findings revealed inflammation predominantly affecting the respiratory muscles. Later, AMA were detected. Patient 2: A 69-year-old woman with a nine-year history of muscle weakness presented with chronic respiratory failure requiring mechanical ventilation. A biceps brachii muscle biopsy revealed mild necrosis. Corticosteroid therapy was successful in weaning the patient off ventilator support. Notably, both patients showed mild limb muscle weakness, contrasting the severity of their respiratory insufficiency. Myositis associated with AMA should be considered in the differential diagnosis of diseases causing respiratory failure in ambulatory patients.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"52 ","pages":"Article 105395"},"PeriodicalIF":2.7,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144314079","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

278th ENMC International Workshop: European standards for harmonization of myasthenia gravis registries and emerging digital solutions. 20th-21st September 2024, Hoofddorp, The Netherlands 第278届ENMC国际研讨会：重症肌无力登记和新兴数字解决方案协调的欧洲标准。2024年9月20日至21日，荷兰胡夫多普

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-05-18 DOI: 10.1016/j.nmd.2025.105368

Sabrina Sacconi , Fiammetta Vanoli , Frauke Stascheit , Elena Cortés-Vicente , Renato Mantegazza , Andreas Meisel , 278th ENMC Workshop participants

{"title":"278th ENMC International Workshop: European standards for harmonization of myasthenia gravis registries and emerging digital solutions. 20th-21st September 2024, Hoofddorp, The Netherlands","authors":"Sabrina Sacconi , Fiammetta Vanoli , Frauke Stascheit , Elena Cortés-Vicente , Renato Mantegazza , Andreas Meisel , 278th ENMC Workshop participants","doi":"10.1016/j.nmd.2025.105368","DOIUrl":"10.1016/j.nmd.2025.105368","url":null,"abstract":"<div><div>The European Neuromuscular Centre workshop convened a diverse array of key stakeholders dedicated to the European standards for harmonization of national Myasthenia Gravis registries and emerging digital solutions. Participants included representatives from the pharmaceutical industry, patient advocacy organizations, clinicians with expertise in Myasthenia Gravis, and members of the European Reference Network for Rare Neuromuscular Diseases. This multidisciplinary composition, as well as preliminary activities, fostered robust discussions and facilitated the identification of shared objectives for future endeavors to allow collaboration at European level among national Myasthenia Gravis registries. Throughout the workshop sessions, relevant topics emerged, highlighting both the challenges and strengths towards harmonizing data on myasthenia gravis in national registries and improving outcomes for patients with myasthenia.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"51 ","pages":"Article 105368"},"PeriodicalIF":2.7,"publicationDate":"2025-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144071876","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

Obituary 讣告

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-05-09 DOI: 10.1016/j.nmd.2025.105310

Duygu Selcen

引用次数: 0

Aseptic meningoencephalitis during nusinersen therapy in a patient with type III spinal muscular atrophy: a case report 无菌性脑膜脑炎在nusinsen治疗的患者与III型脊髓性肌萎缩：1例报告

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-05-01 DOI: 10.1016/j.nmd.2025.105365

Lukasz Kolakowski , Olivia Zschau , Jérôme Bonzon , Anthony de Vere-Tyndall , Marina Herwerth , Christoph Neuwirth , Michael Weller , Patrick Roth , Bettina Schreiner , Veronika Kana

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 : 2025-05-01 DOI: 10.1016/S0960-8966(25)00101-4

引用次数: 0

Sporadic late onset nemaline myopathy responsive to plasma exchanges discovered during a Graft-versus-host disease 在移植物抗宿主病期间发现的血浆交换反应的散发性迟发性线状肌病

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-05-01 DOI: 10.1016/j.nmd.2025.105361

Sarah Souvannanorath , Giovanni Umberto Borin , Rabah Redjoul , Dehbia Menouche , Elsa Poullot , Anissa Moktefi , Gianmarco Severa , Baptiste Periou , Sultan Bastu , François-Jerome Authier , Jean-Michel Goujon , Emmanuele Lechapt , Edoardo Malfatti

{"title":"Sporadic late onset nemaline myopathy responsive to plasma exchanges discovered during a Graft-versus-host disease","authors":"Sarah Souvannanorath , Giovanni Umberto Borin , Rabah Redjoul , Dehbia Menouche , Elsa Poullot , Anissa Moktefi , Gianmarco Severa , Baptiste Periou , Sultan Bastu , François-Jerome Authier , Jean-Michel Goujon , Emmanuele Lechapt , Edoardo Malfatti","doi":"10.1016/j.nmd.2025.105361","DOIUrl":"10.1016/j.nmd.2025.105361","url":null,"abstract":"<div><div>Sporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset acquired myopathy characterized by the presence of clusters of nemaline bodies (rods) inside atrophic muscle fibers, with mild to no inflammation. Graft-versus-host disease (GVHD) is a systemic disorder occurring after allogenic hematopoietic stem cell transplant (allo-HSCT) variably associated with immune-mediated neuromuscular complications such as myositis, peripheral neuropathy, and myasthenic syndromes.</div><div>A 49-year-old woman with an acute myeloid leukemia with translocation (6;9), and transcript DEK-NUP, was treated with chemotherapy and allo-HSCT. One month later, she developed a skin and digestive GVHD followed by the development of subacute progressive proximal muscular weakness. Serum CK were normal, and there was no MGUS. Muscle MRI showed oedema of paravertebral, pelvic girdle, and lower limbs muscle. Corticosteroids, IVIg, immunosuppressive, and anti-JAK treatments ameliorated the GVHD, but were ineffective on muscle weakness. A <em>vastus lateralis</em> muscle biopsy revealed clusters of rods in the majority of fibers and mild MHC-I expression in keeping with a SLONM. Plasma exchange therapy (PLEX) led to complete recovery of the muscle strength in several months.</div><div>In conclusion we report a case of SLONM discovered during a chronic GVHD that responded to prolonged PLEX therapy.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"50 ","pages":"Article 105361"},"PeriodicalIF":2.7,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143890794","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 神经肌肉疾病最新进展

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-05-01 DOI: 10.1016/S0960-8966(25)00099-9

引用次数: 0

Emerging atypical clinicopathological manifestations of immune-mediated necrotizing myopathy (IMNM) 免疫介导坏死性肌病（IMNM）新出现的非典型临床病理表现

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-05-01 DOI: 10.1016/j.nmd.2025.105363

Michael P. Skolka , Iago Pinal-Fernandez , Andrew L. Mammen , Teerin Liewluck

{"title":"Emerging atypical clinicopathological manifestations of immune-mediated necrotizing myopathy (IMNM)","authors":"Michael P. Skolka , Iago Pinal-Fernandez , Andrew L. Mammen , Teerin Liewluck","doi":"10.1016/j.nmd.2025.105363","DOIUrl":"10.1016/j.nmd.2025.105363","url":null,"abstract":"<div><div>Immune-mediated necrotizing myopathy (IMNM) is an autoimmune myopathy typically characterized by a subacute-onset, rapidly progressive proximal predominant weakness, markedly elevated creatine kinase (CK) levels, and myopathological features of necrotic and regenerating fibers with minimal or no lymphocytic infiltration. IMNM can be associated with anti-HMGCR and anti-SRP antibodies. Expediting a diagnosis and beginning treatment with immunotherapy is important as early treatment can improve patient symptoms and outcomes. Notably, recent evidence has revealed several atypical clinical and histopathologic phenotypes of IMNM, which can make recognizing this treatable disease challenging. There are reports of seropositive IMNM patients exhibiting a chronic and slowly progressive course of weakness, resembling limb-girdle muscular dystrophy, as well as isolated dysphagia, prominent oculobulbar involvement, or facioscapulohumeral muscular dystrophy-like phenotype. Some patients may present in presymptomatic stages with asymptomatic hyperCKemia. Myopathological findings of IMNM have also expanded to encompass features including tubular aggregates, myofibrillar pathology, mitochondrial myopathy, excessive lipid cumulation, and megaconial pathology. The aim of this review is to highlight these unusual clinical and histopathologic presentations of IMNM, as recognizing these atypical features of IMNM is crucial to expedite diagnosis, initiate appropriate immunotherapies, and improving prognosis in this treatable myopathy.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"50 ","pages":"Article 105363"},"PeriodicalIF":2.7,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143890792","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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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 : 2025-05-01 DOI: 10.1016/S0960-8966(25)00102-6

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