Pub Date : 2026-01-01DOI: 10.1016/j.nmd.2025.106308
{"title":"A New Chapter for Neuromuscular Disorders by C. Weihl","authors":"","doi":"10.1016/j.nmd.2025.106308","DOIUrl":"10.1016/j.nmd.2025.106308","url":null,"abstract":"","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"58 ","pages":"Article 106308"},"PeriodicalIF":2.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145850486","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}
Pub Date : 2025-12-30DOI: 10.1016/j.nmd.2025.106331
David Gómez-Andrés , Michelle A Farrar , Mireia Alvarez-Molinero , Rocío Garcia-Uzquiano , Chiara Brusa , Giovanni Baranello , Susana Quijano-Roy , 285th ENMC Workshop participants
Recent advances in spinal muscular atrophy (SMA) early diagnosis and treatment have significantly improved survival and motor outcomes, particularly for those with severe phenotypes. However, clinicians have observed unexpected cognitive, social, communication, and behavioural differences in a proportion of children. The 285th ENMC workshop convened 28 experts from 13 countries to address these neurodevelopmental concerns. Key outcomes included confirming the presence of challenges in neurodevelopment in a substantial proportion of treated SMA type 1 children, identifying higher-risk subgroups, and emphasizing the need for early identification, timely referrals, and family support. Participants agreed on a core screening strategy and highlighted the importance of international collaboration to develop specific diagnostic and intervention guidelines. Future steps involve launching an online survey to assess the prevalence of neurodevelopmental disorders and study their characteristics and trajectories, developing care guidelines, and promoting research working groups to further understand brain development in SMA and improve patient care.
{"title":"285th ENMC international workshop: SMN-associated neurodevelopmental disorder: type 1 spinal muscular atrophy and the brain, 31st January - 2nd February 2025, Hoofddorp, The Netherlands","authors":"David Gómez-Andrés , Michelle A Farrar , Mireia Alvarez-Molinero , Rocío Garcia-Uzquiano , Chiara Brusa , Giovanni Baranello , Susana Quijano-Roy , 285th ENMC Workshop participants","doi":"10.1016/j.nmd.2025.106331","DOIUrl":"10.1016/j.nmd.2025.106331","url":null,"abstract":"<div><div>Recent advances in spinal muscular atrophy (SMA) early diagnosis and treatment have significantly improved survival and motor outcomes, particularly for those with severe phenotypes. However, clinicians have observed unexpected cognitive, social, communication, and behavioural differences in a proportion of children. The 285th ENMC workshop convened 28 experts from 13 countries to address these neurodevelopmental concerns. Key outcomes included confirming the presence of challenges in neurodevelopment in a substantial proportion of treated SMA type 1 children, identifying higher-risk subgroups, and emphasizing the need for early identification, timely referrals, and family support. Participants agreed on a core screening strategy and highlighted the importance of international collaboration to develop specific diagnostic and intervention guidelines. Future steps involve launching an online survey to assess the prevalence of neurodevelopmental disorders and study their characteristics and trajectories, developing care guidelines, and promoting research working groups to further understand brain development in SMA and improve patient care.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"60 ","pages":"Article 106331"},"PeriodicalIF":2.8,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146024494","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}
Pub Date : 2025-12-30DOI: 10.1016/j.nmd.2025.106332
Carla J. Jonker , Kelly Plueschke , Kieran C. Breen , Mencía de Lemus Belmonte , Patrice Verpillat , Alexandra Pacurariu
Spinal muscular atrophy is a rare recessive progressive neurodegenerative disorder. To better understand the progression of spinal muscular atrophy the European Medicines Agency launched a study based on registry data. This manuscript describes some lessons learnt and considerations how to improve future registry-based studies that aim to inform regulatory decision-making. The study started with a feasibility assessment to select appropriate registries from the TREAT-NMD network. The feasibility assessment is key to understand upfront the quality, capability and capacity of registries to address a research question, as well as the potential limitations. Several tools are available on how to assess and ultimately improve data quality. Data from a registry becomes more valuable if it can be linked to other data sources to supplement data. For regulatory decision-making on orphan drugs, it is crucial to collect comprehensive data from non-treated patients. Missing information for important variables in non-treated patients complicates comparison with data from treated patients, as this may introduce bias into the results. Collaboration with registries has demonstrated opportunities for access to registry data and the steps needed to improve data quality. This requires more support in the form of funding, resources and training to understand the legal requirements.
{"title":"Learnings from a registry-based cohort study for spinal muscular atrophy disease","authors":"Carla J. Jonker , Kelly Plueschke , Kieran C. Breen , Mencía de Lemus Belmonte , Patrice Verpillat , Alexandra Pacurariu","doi":"10.1016/j.nmd.2025.106332","DOIUrl":"10.1016/j.nmd.2025.106332","url":null,"abstract":"<div><div>Spinal muscular atrophy is a rare recessive progressive neurodegenerative disorder. To better understand the progression of spinal muscular atrophy the European Medicines Agency launched a study based on registry data. This manuscript describes some lessons learnt and considerations how to improve future registry-based studies that aim to inform regulatory decision-making. The study started with a feasibility assessment to select appropriate registries from the TREAT-NMD network. The feasibility assessment is key to understand upfront the quality, capability and capacity of registries to address a research question, as well as the potential limitations. Several tools are available on how to assess and ultimately improve data quality. Data from a registry becomes more valuable if it can be linked to other data sources to supplement data. For regulatory decision-making on orphan drugs, it is crucial to collect comprehensive data from non-treated patients. Missing information for important variables in non-treated patients complicates comparison with data from treated patients, as this may introduce bias into the results. Collaboration with registries has demonstrated opportunities for access to registry data and the steps needed to improve data quality. This requires more support in the form of funding, resources and training to understand the legal requirements.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"59 ","pages":"Article 106332"},"PeriodicalIF":2.8,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145927819","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}
Pub Date : 2025-12-24DOI: 10.1016/j.nmd.2025.106328
RN Villar-Quiles , LH Hayes , S Raga , C Bönnemann , E Oates , J Dowling , A Ferreiro , 277th ENMC workshop participants
The 277th ENMC workshop on Congenital Myopathies was held in Amsterdam, The Netherlands, on 21–23 June, with 26 clinical, research, and curation experts and patient representatives from five continents. The workshop aimed to 1) establish an updated nomenclature and 2) update recommendations for their diagnostic evaluation. It was agreed that the preferred acronym for congenital myopathies is CMYO. Consensus defined CMYOs as a heterogeneous group of genetic muscle disorders typically presenting perinatally or in infancy with hypotonia and muscle weakness, usually non- or slowly progressive, with distinctive structural, non-dystrophic histopathological features. A nomenclature framework integrating gene, mode of inheritance, and histopathology was proposed, exemplified by “autosomal recessive RYR1-congenital myopathy with cores.” Diagnostic consensus emphasized a genetics-first approach, using targeted massively parallel sequencing panels, exome, or genome sequencing, complemented by electromyography, muscle imaging, and biopsy when indicated and available. The workshop highlighted the need for harmonized classification across databases, patient engagement, and global representation to support precise diagnosis, genotype–phenotype correlation, and equitable access to care and research.
{"title":"277th ENMC international workshop: Congenital myopathies: revising and revisiting nomenclature and diagnostic guidelines, 21–23 June 2024, Hoofddorp, The Netherlands","authors":"RN Villar-Quiles , LH Hayes , S Raga , C Bönnemann , E Oates , J Dowling , A Ferreiro , 277th ENMC workshop participants","doi":"10.1016/j.nmd.2025.106328","DOIUrl":"10.1016/j.nmd.2025.106328","url":null,"abstract":"<div><div>The 277th ENMC workshop on Congenital Myopathies was held in Amsterdam, The Netherlands, on 21–23 June, with 26 clinical, research, and curation experts and patient representatives from five continents. The workshop aimed to 1) establish an updated nomenclature and 2) update recommendations for their diagnostic evaluation. It was agreed that the preferred acronym for congenital myopathies is CMYO. Consensus defined CMYOs as a heterogeneous group of genetic muscle disorders typically presenting perinatally or in infancy with hypotonia and muscle weakness, usually non- or slowly progressive, with distinctive structural, non-dystrophic histopathological features. A nomenclature framework integrating gene, mode of inheritance, and histopathology was proposed, exemplified by “autosomal recessive RYR1-congenital myopathy with cores.” Diagnostic consensus emphasized a genetics-first approach, using targeted massively parallel sequencing panels, exome, or genome sequencing, complemented by electromyography, muscle imaging, and biopsy when indicated and available. The workshop highlighted the need for harmonized classification across databases, patient engagement, and global representation to support precise diagnosis, genotype–phenotype correlation, and equitable access to care and research.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"60 ","pages":"Article 106328"},"PeriodicalIF":2.8,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146100546","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}
Pub Date : 2025-12-18DOI: 10.1016/j.nmd.2025.106313
Eleonora Torchia , Frauke Stascheit , Felix Kleefeld , Stephan J. Schreiber , Hans H. Goebel , Werner Stenzel
Sporadic late-onset nemaline myopathy (SLONM) is an acquired adult-onset myopathy characterized by subacute proximal weakness and nemaline rods in muscle. Although SLONM frequently occurs with monoclonal gammopathy of undetermined significance (MGUS), the coexistence with other MGUS-related disorders has not been reported. We describe three patients with SLONM and paraproteinemic neuropathy, showing sensory involvement and variable motor deficits, from mild non-progressive disease to a severe form with bulbar complications. Muscle histology revealed a significant number of fibres with nemaline rods and also frequent mitochondrial abnormalities, while nerve pathology demonstrated granular endoneurial deposits consistent with immune–complex–mediated neuropathy. One untreated patient remained stable, whereas the other two progressive, immunosuppressive-refractory cases improved with anti–plasma cell therapy. These cases illustrate a previously unreported co-occurrence of SLONM and MGUS-associated neuropathy. Despite differing clinical courses, shared pathology suggests common mechanisms, with mitochondrial abnormalities as a possibly under-recognized feature. Muscle and nerve biopsy including electronmicroscopic analysis is crucial for accurate diagnosis, and clone-directed therapy may provide benefit.
{"title":"Monoclonal Gammopathy – the common denominator of sporadic late-onset nemaline myopathy and paraproteinemic neuropathy","authors":"Eleonora Torchia , Frauke Stascheit , Felix Kleefeld , Stephan J. Schreiber , Hans H. Goebel , Werner Stenzel","doi":"10.1016/j.nmd.2025.106313","DOIUrl":"10.1016/j.nmd.2025.106313","url":null,"abstract":"<div><div>Sporadic late-onset nemaline myopathy (SLONM) is an acquired adult-onset myopathy characterized by subacute proximal weakness and nemaline rods in muscle. Although SLONM frequently occurs with monoclonal gammopathy of undetermined significance (MGUS), the coexistence with other MGUS-related disorders has not been reported. We describe three patients with SLONM and paraproteinemic neuropathy, showing sensory involvement and variable motor deficits, from mild non-progressive disease to a severe form with bulbar complications. Muscle histology revealed a significant number of fibres with nemaline rods and also frequent mitochondrial abnormalities, while nerve pathology demonstrated granular endoneurial deposits consistent with immune–complex–mediated neuropathy. One untreated patient remained stable, whereas the other two progressive, immunosuppressive-refractory cases improved with anti–plasma cell therapy. These cases illustrate a previously unreported co-occurrence of SLONM and MGUS-associated neuropathy. Despite differing clinical courses, shared pathology suggests common mechanisms, with mitochondrial abnormalities as a possibly under-recognized feature. Muscle and nerve biopsy including electronmicroscopic analysis is crucial for accurate diagnosis, and clone-directed therapy may provide benefit.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"59 ","pages":"Article 106313"},"PeriodicalIF":2.8,"publicationDate":"2025-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145885694","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}
Pub Date : 2025-12-16DOI: 10.1016/j.nmd.2025.106312
Jonas Gillenstrand , Malin Broberg , Anna-Karin Kroksmark , Jennifer Strand , Mar Tulinius , Anne-Berit Ekström
This study investigated age-related differences in hot (affective-motivational) and cold (cognitive) executive functions (EF) in boys with Duchenne Muscular Dystrophy (DMD) across childhood and adolescence. In a cross-sectional design, 70 boys with DMD aged 5, 8, 11, and 14 years completed performance-based EF assessments, accompanied by parent-reported EF ratings. Longitudinal data were also collected from a subsample of 13 boys over a three-year period, with repeated assessments at the age intervals of 5–8, 8–11, and 11–14 years. At age 5, no significant EF impairments were observed. By age 8, however, significant deficits in hot EF tasks emerged, followed by impairments in cold EF at age 11. Cold EF performance indicated developmental delay rather than decline, as reflected in logits-based data. Longitudinal analyses using the Reliable Change Index revealed heterogeneous developmental patterns. Findings suggest that boys with DMD exhibit disrupted EF development, with increasing impairment through middle childhood and a potential positive trend from 11 to 14 years. These results underscore the importance of monitoring EF across a wider age range in this population.
{"title":"Age-related differences in hot and cold executive functions in boys with Duchenne muscular dystrophy: longitudinal individual changes and age-group comparisons across childhood and adolescence","authors":"Jonas Gillenstrand , Malin Broberg , Anna-Karin Kroksmark , Jennifer Strand , Mar Tulinius , Anne-Berit Ekström","doi":"10.1016/j.nmd.2025.106312","DOIUrl":"10.1016/j.nmd.2025.106312","url":null,"abstract":"<div><div>This study investigated age-related differences in hot (affective-motivational) and cold (cognitive) executive functions (EF) in boys with Duchenne Muscular Dystrophy (DMD) across childhood and adolescence. In a cross-sectional design, 70 boys with DMD aged 5, 8, 11, and 14 years completed performance-based EF assessments, accompanied by parent-reported EF ratings. Longitudinal data were also collected from a subsample of 13 boys over a three-year period, with repeated assessments at the age intervals of 5–8, 8–11, and 11–14 years. At age 5, no significant EF impairments were observed. By age 8, however, significant deficits in hot EF tasks emerged, followed by impairments in cold EF at age 11. Cold EF performance indicated developmental delay rather than decline, as reflected in logits-based data. Longitudinal analyses using the Reliable Change Index revealed heterogeneous developmental patterns. Findings suggest that boys with DMD exhibit disrupted EF development, with increasing impairment through middle childhood and a potential positive trend from 11 to 14 years. These results underscore the importance of monitoring EF across a wider age range in this population.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"59 ","pages":"Article 106312"},"PeriodicalIF":2.8,"publicationDate":"2025-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145834335","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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