Journal of Clinical Neuromuscular Disease最新文献_第2页

Differences in Neuropathic Pain as a Distinguishing Symptom in Dry Beriberi Mimicking Guillain-Barre Syndrome. 模仿格林-巴利综合征的干性脚气病神经性疼痛作为鉴别症状的差异

Journal of Clinical Neuromuscular Disease Pub Date : 2026-03-01 Epub Date: 2026-03-03 DOI: 10.1097/CND.0000000000000507

Kyle N Kaneko, Erik Ortega, Shafeeq S Ladha

引用次数: 0

A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5). 在常染色体显性慢性进行性外眼麻痹（PEOA5）库尔德家族中发现一种新的截断致病性变异RRM2B。

Journal of Clinical Neuromuscular Disease Pub Date : 2026-03-01 Epub Date: 2026-03-03 DOI: 10.1097/CND.0000000000000514

Demian Mayer, Emmanouela Kartsonaki, Einar Wilder-Smith, André Schaller, Stefan Frank, Stephan Bohlhalter, Violeta Mihaylova

{"title":"A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5).","authors":"Demian Mayer, Emmanouela Kartsonaki, Einar Wilder-Smith, André Schaller, Stefan Frank, Stephan Bohlhalter, Violeta Mihaylova","doi":"10.1097/CND.0000000000000514","DOIUrl":"10.1097/CND.0000000000000514","url":null,"abstract":"Objectives: To report a family with autosomal-dominant chronic progressive external ophthalmoplegia due to a novel truncating pathogenic variant in RRM2B and to show the challenges facing clinicians in diagnosing rare neuromuscular diseases.Methods: Four family members were examined. Muscle biopsy, mitochondrial DNA analysis, next generation sequencing, and targeted mitochondrial gene panel followed by Sanger sequencing and complementary deoxyribonucleic acid analysis were performed.Results: A novel heterozygous RRM2B truncating variant c.968_972del p.(Phe323*) was identified. complementary deoxyribonucleic acid analysis showed expression of both RRM2B alleles.Conclusions: The proband was initially misdiagnosed as myasthenia gravis. Based on the phenotype and family history, chronic progressive external ophthalmoplegia was suspected and confirmed by finding of a novel RRM2B variant. The detection of another truncating pathogenic variant in exon 9 of RRM2B further supports this exon as mutation hot spot and underlines the role of the C-terminal highly conserved amino acids for the interaction of the p53R2 dimer with the R1 dimer.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 3","pages":"108-111"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147327615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Real-World Evaluation of Efgartigimod in Generalized Myasthenia Gravis: A Single-Center Experience. Efgartigimod治疗广泛性重症肌无力的真实世界评价：单中心经验。

Journal of Clinical Neuromuscular Disease Pub Date : 2026-03-01 Epub Date: 2026-03-03 DOI: 10.1097/CND.0000000000000542

Roopa Sharma, Ahmed Sabra, Navina Magesh Kumar, Pravallika Putrevu, Souayah Nizar, Machteld E Hillen

引用次数: 0

The Diagnosis of Small Fiber Neuropathy Should Be Expanded and Standardized. 小纤维神经病的诊断应扩大和规范。

Journal of Clinical Neuromuscular Disease Pub Date : 2025-12-01 DOI: 10.1097/CND.0000000000000541

Josef Finsterer

引用次数: 0

What is in the Neuromuscular Junction Literature? 什么是神经肌肉接点文献？

Journal of Clinical Neuromuscular Disease Pub Date : 2025-12-01 DOI: 10.1097/CND.0000000000000536

Joshua Smith, David Lacomis

{"title":"What is in the Neuromuscular Junction Literature?","authors":"Joshua Smith, David Lacomis","doi":"10.1097/CND.0000000000000536","DOIUrl":"https://doi.org/10.1097/CND.0000000000000536","url":null,"abstract":"Abstract: The review begins with epidemiology studies that show an increased incidence of later onset myasthenia gravis (MG) and higher short-term mortality rates, especially in females, compared with the general population in Denmark. In the United States, a study showed increased mortality especially in older patients, and there was racial disparity. In France, a study showed higher mortality with male gender, older age, and higher comorbidities. Economic burden is addressed in another article. Regarding clinical features, light sensitivity in MG is discussed along with differentiating thyroid eye disease symptoms and signs from those of ocular MG. MG-specific measures are highlighted with consensus recommendations for their use. Several articles contain data regarding diagnostic laboratory assays and test sensitivity and specificity among other measures. The role of thymectomy in older patients with MG is considered. The medical treatment section addresses corticosteroid regimens, intravenous immunoglobulin as maintenance therapy, a phase 3 study of the recently approved neonatal Fc receptor (FcRN) blocker nipocalimab, use of complement inhibitors and FcRN blockers in general, regimens for efgartigimod, and positive studies on the interleukin-16 receptor monoclonal antibody (Ab) satralizumab and the CD19 B-cell-depleting monoclonal Ab inebilizumab.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 2","pages":"34-44"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145662351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

"Hit Hard, Hit Early"-Should We Apply This in Myasthenia Gravis? “早打早打”——重症肌无力应该用这个吗？

Journal of Clinical Neuromuscular Disease Pub Date : 2025-12-01 DOI: 10.1097/CND.0000000000000527

Taylor Watson-Fargie, Caroline Carmichael, Samuel Alexander Hayes, Maria Elena Farrugia

引用次数: 0

Unusual Presentation of Viral Myositis With Isolated Distal Upper Extremity Weakness. 病毒性肌炎伴孤立性上肢远端无力的不寻常表现。

Journal of Clinical Neuromuscular Disease Pub Date : 2025-12-01 DOI: 10.1097/CND.0000000000000540

Jonah Nordeen, Cynthia Nguyen, Kalyn M Dyer, Rachana K Gandhi Mehta

引用次数: 0

SYT2-Related Disease: A Case-Based Review. syt2相关疾病：基于病例的回顾

Journal of Clinical Neuromuscular Disease Pub Date : 2025-12-01 DOI: 10.1097/CND.0000000000000508

Pedro Nogueira Fontana, Carolina da Cunha Correia, Ana Marina Dutra Ferreira da Silva, Alzira Alves de Siqueira Carvalho

{"title":"SYT2-Related Disease: A Case-Based Review.","authors":"Pedro Nogueira Fontana, Carolina da Cunha Correia, Ana Marina Dutra Ferreira da Silva, Alzira Alves de Siqueira Carvalho","doi":"10.1097/CND.0000000000000508","DOIUrl":"10.1097/CND.0000000000000508","url":null,"abstract":"Objectives: Synaptotagmin-2-related disease is an ultrarare entity, characterized by distal muscle atrophy in the lower limbs, foot deformities and, in some cases, neonatal hypotonia. Most mutations are concentrated in the C2B domain, critical for the protein's function. Here, our objective is to review clinical, electrophisiological and pathological aspects of this disease.Methods: We describe a previously unreported variant, comparing it with another 27 cases described in the literature.Results: A 14-year-old boy was born with neonatal hypotonia, weak cry, and dysphonia. During childhood, he had recurrent respiratory infections, delayed motor development, and developed glaucoma. Creatine phosphokinase level was 501 U/L; EMG showed reduced compound muscle action potential, myopathic findings, and incremental response. A comprehensive next-generation sequence panel revealed a homozygous variant in the SYT2 gene.Conclusions: The data summarized here and our case provide a general characterization of the phenotypic spectrum of SYT2-related disease and point out to its electrophysiological and pathological features. We discuss the intriguing aspects of a neuromuscular junction disease considered as a distal hereditary motor neuropathy.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 2","pages":"45-56"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145662323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Distinctive MRI Pattern Resembling Type VI Collagen Myopathy in Novel VWA1-Related Distal Hereditary Motor Neuronopathy With Myopathic Features in a Patient From Spain. 一个独特的MRI模式类似于VI型胶原肌病的新型vwa1相关远端遗传性运动神经病变与肌病特征的西班牙患者。

Journal of Clinical Neuromuscular Disease Pub Date : 2025-12-01 DOI: 10.1097/CND.0000000000000538

Aldo F Costa, Teresa Gómez Caravaca, Sandra Rodríguez Navas, Eloy Rivas Infante

{"title":"A Distinctive MRI Pattern Resembling Type VI Collagen Myopathy in Novel VWA1-Related Distal Hereditary Motor Neuronopathy With Myopathic Features in a Patient From Spain.","authors":"Aldo F Costa, Teresa Gómez Caravaca, Sandra Rodríguez Navas, Eloy Rivas Infante","doi":"10.1097/CND.0000000000000538","DOIUrl":"https://doi.org/10.1097/CND.0000000000000538","url":null,"abstract":"Abstract: To describe a 51-year-old woman with early-onset weakness and foot deformities carrying a biallelic truncating mutation in the VWA1 gene. The patient underwent laboratory tests, nerve conduction studies with electromyography, muscle magnetic resonance imaging, muscle biopsy, and genetic testing. Neurophysiological studies and biopsy revealed both myopathic and neuropathic features. Muscle magnetic resonance imaging showed a distinctive outside-in pattern of fatty replacement in the vastus lateralis, resembling that seen in type VI collagen-related myopathies. Whole-exome sequencing identified a homozygous pathogenic variant in VWA1, which encodes an extracellular matrix protein found in the basement membranes of nerves and muscles. Recently, truncating mutations in VWA1 have been associated with previously unsolved neuromyopathy cases. In one of these reports, as in the current case, the MRI pattern mimicked that of type VI collagen disorders. Biallelic VWA1 mutations may account for some genetically undiagnosed cases of neuropathy with myopathic features.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 2","pages":"29-33"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145662377","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Neuromuscular Ultrasound Findings in Monomelic Amyotrophy (Hirayama Disease). 单侧肌萎缩症（平山病）的神经肌肉超声表现。

Journal of Clinical Neuromuscular Disease Pub Date : 2025-12-01 DOI: 10.1097/CND.0000000000000539

Lauren C Cooper, Thomas G West, Michael S Cartwright

引用次数: 0