Neuromuscular Disorders最新文献_第2页

WMS 2025 Vienna Congress Information WMS 2025维也纳大会信息

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-05-01 DOI: 10.1016/S0960-8966(25)00103-8

引用次数: 0

Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: the Northern Ireland experience 晚发性多酰基辅酶a脱氢酶缺乏症样病症：北爱尔兰的经验

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-04-29 DOI: 10.1016/j.nmd.2025.105369

Eamon P McCarron

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Response to Eamon P McCarron: Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: the Northern Ireland experience 对Eamon P McCarron的回应：晚发型多酰基辅酶a脱氢酶缺乏症样疾病：北爱尔兰的经验

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-04-29 DOI: 10.1016/j.nmd.2025.105370

Taylor Watson-Fargie , William Stewart , Cheryl Longman , Maria E Farrugia

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New insight in lipid storage myopathy 脂质储存性肌病的新认识

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-04-21 DOI: 10.1016/j.nmd.2025.105367

Bing Wen , Jingwen Xu , Chuanzhu Yan

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Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness RFC4基因的双等位基因变异导致一种快速进展的先天性肌病，伴严重张力低下和轴向无力

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-04-17 DOI: 10.1016/j.nmd.2025.105366

Barbora Lauerova , Anezka Dolanska , Petra Lassuthova , Denisa Stanclova , Marie Rohlenova , Marie Morimoto , Stephan Zuchner , Isaac R L Xu , Adriana Rebelo , Jana Haberlova

{"title":"Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness","authors":"Barbora Lauerova , Anezka Dolanska , Petra Lassuthova , Denisa Stanclova , Marie Rohlenova , Marie Morimoto , Stephan Zuchner , Isaac R L Xu , Adriana Rebelo , Jana Haberlova","doi":"10.1016/j.nmd.2025.105366","DOIUrl":"10.1016/j.nmd.2025.105366","url":null,"abstract":"<div><div>The <em>RFC4</em> gene has recently been linked to a multisystemic disorder Morimoto-Ryu-Malicdan neuromuscular syndrome, with myopathy being one of the key symptoms described in nine patients. We report the case of two brothers with a rapidly progressive congenital myopathy characterized by severe hypotonia and axial muscle weakness associated with previously unpublished biallelic variants in the <em>RFC4</em> gene. Whole exome sequencing revealed biallelic variants NM_002916.5:c.1019_1020insCAAA and NM_002916.5:c.982_983insACT, corresponding to the protein-level changes p.(Gly341Lysfs*4) and p.(Thr328delinsAsnSer) in both brothers. This case expands the phenotypic spectrum of Morimoto-Ryu-Malicdan neuromuscular syndrome, highlighting severe early-onset axial muscle weakness, severe hypotonia, and preserved intellectual development. We also provide novel insights into the clinical progression and potential multidisciplinary interventions for patients with Morimoto-Ryu-Malicdan neuromuscular syndrome. Our findings highlight the importance of advanced genetic diagnostics and international collaboration in identifying rare neuromuscular diseases and improving the clinical management of affected patients.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"51 ","pages":"Article 105366"},"PeriodicalIF":2.7,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143907995","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

Chronic sarcoid myopathy mimicking facioscapulohumeral muscular dystrophy: a case report 慢性肌样病模拟面肩肱肌营养不良：1例报告

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-04-11 DOI: 10.1016/j.nmd.2025.105364

Kathleen Hoffbauer , Jonathan Baets , Willem De Ridder

{"title":"Chronic sarcoid myopathy mimicking facioscapulohumeral muscular dystrophy: a case report","authors":"Kathleen Hoffbauer , Jonathan Baets , Willem De Ridder","doi":"10.1016/j.nmd.2025.105364","DOIUrl":"10.1016/j.nmd.2025.105364","url":null,"abstract":"<div><div>Chronic sarcoid myopathy is a rare disorder characterized by intramuscular granulomas and generally presents with symmetrical proximal limb-girdle muscle weakness. Here, we present an atypical case of a 68-year-old male with a history of pulmonary sarcoidosis with strikingly asymmetric limb-girdle weakness, progressive >20 years, including periscapular, paraspinal, lower limb and subtle facial involvement, mimicking facioscapulohumeral muscular dystrophy. MR images revealed a striking asymmetric pattern of patchy muscle involvement of paraspinal, lower limb and right periscapular muscles without marked muscle oedema. Although a genetic myopathy was suspected, genetic testing for facioscapulohumeral muscular dystrophy (FSHD1/2) as well as whole exome sequencing remained negative. Muscle biopsy revealed myopathic features and widespread granulomatous inflammatory infiltrates without signs orienting towards a concomitant muscular dystrophy or inclusion body myositis. This case demonstrates that chronic sarcoid myopathy can present with a very slowly progressive, highly selective asymmetrical, multifocal pattern of muscle involvement.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"50 ","pages":"Article 105364"},"PeriodicalIF":2.7,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143847295","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 involvement of central nervous system across the phenotypic spectrum of Pompe disease: a systematic review 中枢神经系统参与庞贝病的表型谱：一个系统的回顾

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-04-11 DOI: 10.1016/j.nmd.2025.105362

Francesca Torri , Bianca Buchignani , Zeynep Unluturk , Gabriele Vadi , Sara Loprieno , Roberta Battini , Michelangelo Mancuso , Gabriele Siciliano

{"title":"The involvement of central nervous system across the phenotypic spectrum of Pompe disease: a systematic review","authors":"Francesca Torri , Bianca Buchignani , Zeynep Unluturk , Gabriele Vadi , Sara Loprieno , Roberta Battini , Michelangelo Mancuso , Gabriele Siciliano","doi":"10.1016/j.nmd.2025.105362","DOIUrl":"10.1016/j.nmd.2025.105362","url":null,"abstract":"<div><div>Pompe disease is an inherited lysosomal disorder which results in glycogen buildup in various organs and tissues. The phenotypic spectrum of this disorder encompasses infantile and late-onset forms, with variable multisystem involvement. Affection of the central nervous system is known to variably present in infantile forms, while the incidence of disease-related alterations in older patients is more debated. PubMed, Web of Science and Scopus databases were searched for papers regarding brain and spinal cord abnormalities at imaging and pathology, neuropsychological assessment and clinical reports in Pompe disease, without chronological restrictions. The database search identified 609 records, then 282 full-text articles were retrieved for detailed examination. Of these records, 81 were selected, which presented heterogeneity in methodology and overall analyzed small cohorts. Our search highlights the current fragmented evidence presented in the field. It would be advisable to perform a routine CNS assessment at least by imaging and neuropsychological evaluation at the time of diagnosis and as part of a regular follow-up, for IOPD but also for LOPD patients, to better characterize the prevalence and clinical significance of CNS abnormalities and provide a tailored follow-up.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"51 ","pages":"Article 105362"},"PeriodicalIF":2.7,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144123634","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 : 2025-04-01 DOI: 10.1016/S0960-8966(25)00075-6

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WMS 2025 Vienna Congress Information WMS 2025维也纳大会信息

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-04-01 DOI: 10.1016/S0960-8966(25)00077-X

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WMS CONGRESS TEXT page edits for April 2025 WMS大会文本页面编辑为2025年4月

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-04-01 DOI: 10.1016/S0960-8966(25)00086-0

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