Striated muscles are fundamental components of the human body, playing a central role in motor function. Since antiquity, muscle structure and function have been subjects of inquiry, initially grounded in descriptive anatomical observations. Only with scientific progress and the development of new investigative tools—particularly microscopy—did the histological study of muscle begin to evolve into its current form. The histological examination of normal striated muscle has been instrumental in identifying key pathological features of neuromuscular disorders. Beginning with pivotal discoveries in the 19th century, followed by significant advances throughout the 20th century, our present understanding of myopathology has been shaped by this cumulative progress. Notably, muscle biopsy—now a routine diagnostic procedure in suspected myopathies—has played a critical role in these developments. This review presents a systematic approach that effectively illustrates the key steps in the histological analysis of normal and pathological striated muscle.
{"title":"A historical perspective on the morphology of normal and pathological striated muscle","authors":"Mégane Le Quang , Jean-Michel Vallat , Marie-Laure Martin-Négrier , Stéphane Mathis","doi":"10.1016/j.nmd.2025.106301","DOIUrl":"10.1016/j.nmd.2025.106301","url":null,"abstract":"<div><div>Striated muscles are fundamental components of the human body, playing a central role in motor function. Since antiquity, muscle structure and function have been subjects of inquiry, initially grounded in descriptive anatomical observations. Only with scientific progress and the development of new investigative tools—particularly microscopy—did the histological study of muscle begin to evolve into its current form. The histological examination of normal striated muscle has been instrumental in identifying key pathological features of neuromuscular disorders. Beginning with pivotal discoveries in the 19th century, followed by significant advances throughout the 20th century, our present understanding of myopathology has been shaped by this cumulative progress. Notably, muscle biopsy—now a routine diagnostic procedure in suspected myopathies—has played a critical role in these developments. This review presents a systematic approach that effectively illustrates the key steps in the histological analysis of normal and pathological striated muscle.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"58 ","pages":"Article 106301"},"PeriodicalIF":2.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145734002","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 : 2026-01-01Epub Date: 2025-11-08DOI: 10.1016/j.nmd.2025.106278
Emily A. Hayes , Chet R. Villa , Benjamin Kroslowitz , Deipanjan Nandi , Linda Cripe , Jonathan H. Soslow , Deepa Mokshagundam , Renata Shih , Bethany Wisotzkey , John J. Parent , Tyler Cunningham , Jennifer Conway , Paul Esteso , Brian F. Birnbaum , Svetlana B. Shugh , Frank J. Raucci , Beth D. Kaufman , Nelia Soares , Sonya Kirmani , Hugo R. Martinez , Carol A. Wittlieb-Weber
The Advanced Cardiac Therapies Improving Outcomes Network formed a dystrophinopathy registry to define cardiac diagnostics, management, and advanced therapies in the current era. Males with dystrophinopathy and one of the following: age ≥10 years, cardiomyopathy, or receipt of gene therapy, were eligible for enrollment. Data collection occurred at enrollment and every 6 months thereafter and includes demographics, neuromuscular, cardiac, and pulmonary endpoints, medications, advanced cardiac therapies, and outcomes. This analysis is of the first 500 males with a mean age of 18.1 years (± 5.38 years), the majority being white (81.2%) with Duchenne Muscular Dystrophy (91.4%), on glucocorticoids (80.2%), non-ambulatory (67.2%), and not requiring respiratory support (54.0%). In this cohort, 58.8% had evidence of cardiac involvement, 54.6% with evidence of ventricular dysfunction. The majority were on cardiac medication: 458 (91.6%) on angiotensin converting enzyme inhibitor or equivalent, 346 (69.2%) on mineralocorticoid receptor antagonist, and 264 (52.8%) on beta-blocker. One-hundred thirteen (22.6%) had an arrhythmia, 8 (1.6%) an implantable cardioverter defibrillator, 6 (1.2%) a ventricular assist device, and 3 (0.6%) underwent heart transplantation. Longitudinal data collection will establish a modern natural history of cardiomyopathy in dystrophinopathy, providing critical information to inform cardiac management and clinical trials.
{"title":"Dystrophinopathy in ACTION: The first 500 males enrolled in the Advanced Cardiac Therapies Improving Outcomes Network prospective dystrophinopathy registry","authors":"Emily A. Hayes , Chet R. Villa , Benjamin Kroslowitz , Deipanjan Nandi , Linda Cripe , Jonathan H. Soslow , Deepa Mokshagundam , Renata Shih , Bethany Wisotzkey , John J. Parent , Tyler Cunningham , Jennifer Conway , Paul Esteso , Brian F. Birnbaum , Svetlana B. Shugh , Frank J. Raucci , Beth D. Kaufman , Nelia Soares , Sonya Kirmani , Hugo R. Martinez , Carol A. Wittlieb-Weber","doi":"10.1016/j.nmd.2025.106278","DOIUrl":"10.1016/j.nmd.2025.106278","url":null,"abstract":"<div><div>The Advanced Cardiac Therapies Improving Outcomes Network formed a dystrophinopathy registry to define cardiac diagnostics, management, and advanced therapies in the current era. Males with dystrophinopathy and one of the following: age ≥10 years, cardiomyopathy, or receipt of gene therapy, were eligible for enrollment. Data collection occurred at enrollment and every 6 months thereafter and includes demographics, neuromuscular, cardiac, and pulmonary endpoints, medications, advanced cardiac therapies, and outcomes. This analysis is of the first 500 males with a mean age of 18.1 years (± 5.38 years), the majority being white (81.2%) with Duchenne Muscular Dystrophy (91.4%), on glucocorticoids (80.2%), non-ambulatory (67.2%), and not requiring respiratory support (54.0%). In this cohort, 58.8% had evidence of cardiac involvement, 54.6% with evidence of ventricular dysfunction. The majority were on cardiac medication: 458 (91.6%) on angiotensin converting enzyme inhibitor or equivalent, 346 (69.2%) on mineralocorticoid receptor antagonist, and 264 (52.8%) on beta-blocker. One-hundred thirteen (22.6%) had an arrhythmia, 8 (1.6%) an implantable cardioverter defibrillator, 6 (1.2%) a ventricular assist device, and 3 (0.6%) underwent heart transplantation. Longitudinal data collection will establish a modern natural history of cardiomyopathy in dystrophinopathy, providing critical information to inform cardiac management and clinical trials.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"58 ","pages":"Article 106278"},"PeriodicalIF":2.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145584384","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 : 2026-01-01Epub Date: 2025-11-06DOI: 10.1016/j.nmd.2025.106262
Lucienne Ronco , Stephen Tapscott , Nicol C. Voermans , Program Committee
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder marked by progressive muscle weakness and disability throughout life. Affecting about one million people worldwide, FSHD is among the most common forms of muscular dystrophy. To advance global collaboration, the FSHD Society hosted the 32nd International Research Congress (IRC) on June 12–13, 2025, in Amsterdam, the Netherlands. More than 250 researchers, clinicians, patients, and industry representatives attended, highlighting key developments in FSHD research. The Congress comprised six scientific sessions: (1) Population Genetics & Modifiers, (2) Measures of Disease Activity & Progression, (3) Novel Clinical Outcome Measures, (4) Mechanisms of Disease & Interventional Strategies, (5) Clinical Care & Related Issues, and (6) Clinical Studies & Trial Design. Keynote presentations were delivered by Leendert Trouw (Leiden University Medical Center, Netherlands) and Karen Chen (SMA Foundation, USA), who shared perspectives from their respective research domains. Preceding the IRC, the Industry Collaborative (IC) for Therapeutic Development united experts in clinical science, biomarkers, and industry to identify knowledge gaps and strengthen strategies for developing effective FSHD therapies. Following the IRC, the inaugural FSHD Connect Europe meeting brought together patients and families from across Europe to exchange experiences and gain updates on emerging clinical and scientific advances. The FSHD Society continues to foster research and community engagement to accelerate treatment breakthroughs. The next International Research Congress will be held in Chicago, Illinois, on June 25–26, 2026.
{"title":"Meeting report: The FSHD society 2025 international research congress","authors":"Lucienne Ronco , Stephen Tapscott , Nicol C. Voermans , Program Committee","doi":"10.1016/j.nmd.2025.106262","DOIUrl":"10.1016/j.nmd.2025.106262","url":null,"abstract":"<div><div>Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder marked by progressive muscle weakness and disability throughout life. Affecting about one million people worldwide, FSHD is among the most common forms of muscular dystrophy. To advance global collaboration, the FSHD Society hosted the 32nd International Research Congress (IRC) on June 12–13, 2025, in Amsterdam, the Netherlands. More than 250 researchers, clinicians, patients, and industry representatives attended, highlighting key developments in FSHD research. The Congress comprised six scientific sessions: (1) Population Genetics & Modifiers, (2) Measures of Disease Activity & Progression, (3) Novel Clinical Outcome Measures, (4) Mechanisms of Disease & Interventional Strategies, (5) Clinical Care & Related Issues, and (6) Clinical Studies & Trial Design. Keynote presentations were delivered by Leendert Trouw (Leiden University Medical Center, Netherlands) and Karen Chen (SMA Foundation, USA), who shared perspectives from their respective research domains. Preceding the IRC, the Industry Collaborative (IC) for Therapeutic Development united experts in clinical science, biomarkers, and industry to identify knowledge gaps and strengthen strategies for developing effective FSHD therapies. Following the IRC, the inaugural FSHD Connect Europe meeting brought together patients and families from across Europe to exchange experiences and gain updates on emerging clinical and scientific advances. The FSHD Society continues to foster research and community engagement to accelerate treatment breakthroughs. The next International Research Congress will be held in Chicago, Illinois, on June 25–26, 2026.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"58 ","pages":"Article 106262"},"PeriodicalIF":2.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145584387","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 : 2025-11-01Epub Date: 2025-10-24DOI: 10.1016/j.nmd.2025.106255
Elizabeth M. van der Pijl , Svetlana Pasteuning-Vuhman , Johanna Boertje-van der Meulen , Erik H. Niks , Jan J.G.M. Verschuuren , Annemieke Aartsma-Rus , Jaap J. Plomp , Maaike van Putten
Duchenne muscular dystrophy is a muscle wasting disorder caused by lack of dystrophin protein. Dystrophin is present intracellularly at the sarcolemma and is enriched at the postsynaptic membrane of the neuromuscular junction. Morphological and functional neuromuscular junction deficits have been shown in mdx mice, a model lacking dystrophin. Antisense oligonucleotide-mediated exon skipping has been approved in several countries. It is however unclear whether the partial dystrophin restoration achieved is sufficient to rescue muscle functioning. Despite being well investigated at a myofiber level, it is unknown if the exon skipping therapy holds potential to ameliorate or restore neuromuscular junction deficits.
This study investigated the effects of exon skipping on the structure and function of the neuromuscular junction in the mdx mouse. On average, restoration of 16 % of wild type dystrophin protein level was achieved in diaphragm muscle following treatment with a 2′-O-methyl phosphorothioate antisense oligonucleotide. This partially improved neuromuscular junction functioning, evidenced by enhanced amplitudes of miniature endplate potentials and endplate potentials, and reduced sensitivity of neuromuscular transmission to the acetylcholine receptor blocker d-tubocurarine, indicating improved synaptic strength. Additionally, aberrant acetylcholine receptor cluster geometry improved.
杜氏肌营养不良症是一种由肌营养不良蛋白缺乏引起的肌肉萎缩症。肌营养不良蛋白存在于肌膜的细胞内，并在神经肌肉连接处的突触后膜富集。在mdx小鼠（一种缺乏肌营养不良蛋白的模型）中发现了形态学和功能性神经肌肉连接缺陷。反义寡核苷酸介导的外显子跳变已在多个国家得到批准。然而，目前尚不清楚所获得的部分肌营养不良蛋白恢复是否足以挽救肌肉功能。尽管在肌纤维水平上进行了很好的研究，但目前尚不清楚外显子跳跃疗法是否具有改善或恢复神经肌肉连接缺陷的潜力。本研究探讨了外显子跳变对mdx小鼠神经肌肉连接处结构和功能的影响。平均而言，用2 ' - o -甲基硫代磷酸酯反义寡核苷酸治疗膈肌后，恢复了野生型肌营养不良蛋白水平的16%。这部分改善了神经肌肉连接功能，证明了微型终板电位和终板电位的振幅增强，神经肌肉传递对乙酰胆碱受体阻滞剂d-管curarine的敏感性降低，表明突触强度得到改善。此外，异常乙酰胆碱受体簇的几何形状得到改善。
{"title":"Antisense-mediated exon skipping therapy improves neuromuscular junction deficits in a Duchenne muscular dystrophy mouse model","authors":"Elizabeth M. van der Pijl , Svetlana Pasteuning-Vuhman , Johanna Boertje-van der Meulen , Erik H. Niks , Jan J.G.M. Verschuuren , Annemieke Aartsma-Rus , Jaap J. Plomp , Maaike van Putten","doi":"10.1016/j.nmd.2025.106255","DOIUrl":"10.1016/j.nmd.2025.106255","url":null,"abstract":"<div><div>Duchenne muscular dystrophy is a muscle wasting disorder caused by lack of dystrophin protein. Dystrophin is present intracellularly at the sarcolemma and is enriched at the postsynaptic membrane of the neuromuscular junction. Morphological and functional neuromuscular junction deficits have been shown in <em>mdx</em> mice, a model lacking dystrophin. Antisense oligonucleotide-mediated exon skipping has been approved in several countries. It is however unclear whether the partial dystrophin restoration achieved is sufficient to rescue muscle functioning. Despite being well investigated at a myofiber level, it is unknown if the exon skipping therapy holds potential to ameliorate or restore neuromuscular junction deficits.</div><div>This study investigated the effects of exon skipping on the structure and function of the neuromuscular junction in the <em>mdx</em> mouse. On average, restoration of 16 % of wild type dystrophin protein level was achieved in diaphragm muscle following treatment with a 2′-<em>O</em>-methyl phosphorothioate antisense oligonucleotide. This partially improved neuromuscular junction functioning, evidenced by enhanced amplitudes of miniature endplate potentials and endplate potentials, and reduced sensitivity of neuromuscular transmission to the acetylcholine receptor blocker d-tubocurarine, indicating improved synaptic strength. Additionally, aberrant acetylcholine receptor cluster geometry improved.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"56 ","pages":"Article 106255"},"PeriodicalIF":2.8,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145467718","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}
Immune-mediated necrotizing myopathy (IMNM) is a rare but treatable inflammatory myopathy characterized by severe muscle necrosis with minimal inflammatory infiltration. IMNM typically presents with progressive proximal muscle weakness and markedly elevated serum creatine kinase (CK) levels. Here, we report a unique case of IMNM associated with anti-signal recognition particle (SRP) antibody, in which hyperCKemia persisted for 40 years before the onset of muscle symptoms. The extremely prolonged asymptomatic course initially suggested a hereditary myopathy; however, the absence of selective fatty replacement on muscle MRI pointed toward an inflammatory etiology. This imaging finding guided the diagnosis toward IMNM, a treatable condition, and led to successful immunotherapy with normalization of CK levels and marked improvement in muscle strength over 12 months.
{"title":"A case of asymptomatic hyperCKemia for 40 years leading to a diagnosis of treatable immune-mediated necrotizing myopathy","authors":"Ryota Ishida , Nobuyuki Eura , Yukako Nishimori , Ai Yamanaka , Mayu Sugata , Takao Kiriyama , Ichizo Nishino , Kazuma Sugie","doi":"10.1016/j.nmd.2025.106215","DOIUrl":"10.1016/j.nmd.2025.106215","url":null,"abstract":"<div><div>Immune-mediated necrotizing myopathy (IMNM) is a rare but treatable inflammatory myopathy characterized by severe muscle necrosis with minimal inflammatory infiltration. IMNM typically presents with progressive proximal muscle weakness and markedly elevated serum creatine kinase (CK) levels. Here, we report a unique case of IMNM associated with anti-signal recognition particle (SRP) antibody, in which hyperCKemia persisted for 40 years before the onset of muscle symptoms. The extremely prolonged asymptomatic course initially suggested a hereditary myopathy; however, the absence of selective fatty replacement on muscle MRI pointed toward an inflammatory etiology. This imaging finding guided the diagnosis toward IMNM, a treatable condition, and led to successful immunotherapy with normalization of CK levels and marked improvement in muscle strength over 12 months.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"56 ","pages":"Article 106215"},"PeriodicalIF":2.8,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145341013","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}
RYR1-related myopathies (RYR1-RMs) have been reported to exhibit distinct clinical manifestations and muscle pathology. Muscle imaging has gained increasing importance in the diagnosis and the imaging data have also been used in clinical trials for some diseases. This study aims to identify fat replacement patterns among RYR1-RMs and to investigate their relationship with clinical manifestations. A total of 36 patients with RYR1-RMs were examined by quantifying fat replacement in 47 skeletal muscles using the modified Mercuri score (mMS). Patients were classified into 6 diseases: central core disease (CCD), congenital neuromuscular disease with uniform type 1 fiber, central core disease with atypical core, multiminicore disease (MmD), dusty core disease, and myopathy with central nuclei. For data analyses, we employed dimensionality reduction using uniform manifold approximation and projection (UMAP), and hierarchical clustering. The patients with RYR1-RMs were positioned close together on UMAP. Violin plot analysis identified chronological patterns of fat replacement in whole body. Significant correlations were observed between imaging data and clinical symptoms, including respiratory failure, ambulation impairment and scoliosis, and muscle pathology. The patients with RYR1-RMs share a common pattern of fat replacement. Progressive fat replacement was identified, providing a foundation for establishing muscle imaging as a marker for disease progression and treatment efficacy.
{"title":"Muscle imaging of patients with RYR1-related myopathies and its significance to clinical features","authors":"Rui Shimazaki , Satoru Noguchi , Wakako Yoshioka , Hotake Takizawa , Yuji Takahashi , Shinichiro Hayashi , Ichizo Nishino","doi":"10.1016/j.nmd.2025.106275","DOIUrl":"10.1016/j.nmd.2025.106275","url":null,"abstract":"<div><div>RYR1-related myopathies (RYR1-RMs) have been reported to exhibit distinct clinical manifestations and muscle pathology. Muscle imaging has gained increasing importance in the diagnosis and the imaging data have also been used in clinical trials for some diseases. This study aims to identify fat replacement patterns among RYR1-RMs and to investigate their relationship with clinical manifestations. A total of 36 patients with RYR1-RMs were examined by quantifying fat replacement in 47 skeletal muscles using the modified Mercuri score (mMS). Patients were classified into 6 diseases: central core disease (CCD), congenital neuromuscular disease with uniform type 1 fiber, central core disease with atypical core, multiminicore disease (MmD), dusty core disease, and myopathy with central nuclei. For data analyses, we employed dimensionality reduction using uniform manifold approximation and projection (UMAP), and hierarchical clustering. The patients with RYR1-RMs were positioned close together on UMAP. Violin plot analysis identified chronological patterns of fat replacement in whole body. Significant correlations were observed between imaging data and clinical symptoms, including respiratory failure, ambulation impairment and scoliosis, and muscle pathology. The patients with RYR1-RMs share a common pattern of fat replacement. Progressive fat replacement was identified, providing a foundation for establishing muscle imaging as a marker for disease progression and treatment efficacy.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"56 ","pages":"Article 106275"},"PeriodicalIF":2.8,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145574033","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 : 2025-11-01Epub Date: 2025-09-25DOI: 10.1016/j.nmd.2025.106217
Mo Chen , Teresa J. Kimberley , Molly M. Stark , Angus Lindsay , Dawn A. Lowe , Joyce P. Trost
The role of muscle excitability in the underlying mechanism of contraction-induced strength loss and the recovery processes in those with Duchenne muscular dystrophy is unknown. Strength loss of wrist extensor muscles was induced by an intermittent, submaximal, isometric contraction exercise protocol in males with (n = 10) and without Duchenne muscular dystrophy (n = 10). Muscle strength was measured by torque from isometric maximum voluntary contractions. Muscle excitability was measured by compound muscle action potential evoked by transcutaneous magnetic stimulation. Central component of electromyogram was measured by integral electromyogram during isometric maximum voluntary contractions. Significant reductions in muscle excitability were observed in both groups along with reduced maximum voluntary contractions torque after exercise. Muscle excitability was positively correlated with maximum voluntary contractions torque and did not show between-group differences before or immediately after exercise. However, this correlation showed significant between-group differences during recovery. Results indicate that in males with Duchenne muscular dystrophy, muscle strength loss was accompanied by reduced muscle excitability. Importantly, the difference in excitability-torque correlation between groups during recovery suggests that DMD muscle function was affected by the ability to recover from strength loss more than during the contraction-induced strength loss.
{"title":"Role of skeletal muscle excitability in strength loss induced by submaximal isometric contractions in males with Duchenne muscular dystrophy","authors":"Mo Chen , Teresa J. Kimberley , Molly M. Stark , Angus Lindsay , Dawn A. Lowe , Joyce P. Trost","doi":"10.1016/j.nmd.2025.106217","DOIUrl":"10.1016/j.nmd.2025.106217","url":null,"abstract":"<div><div>The role of muscle excitability in the underlying mechanism of contraction-induced strength loss and the recovery processes in those with Duchenne muscular dystrophy is unknown. Strength loss of wrist extensor muscles was induced by an intermittent, submaximal, isometric contraction exercise protocol in males with (<em>n</em> = 10) and without Duchenne muscular dystrophy (<em>n</em> = 10). Muscle strength was measured by torque from isometric maximum voluntary contractions. Muscle excitability was measured by compound muscle action potential evoked by transcutaneous magnetic stimulation. Central component of electromyogram was measured by integral electromyogram during isometric maximum voluntary contractions. Significant reductions in muscle excitability were observed in both groups along with reduced maximum voluntary contractions torque after exercise. Muscle excitability was positively correlated with maximum voluntary contractions torque and did not show between-group differences before or immediately after exercise. However, this correlation showed significant between-group differences during recovery. Results indicate that in males with Duchenne muscular dystrophy, muscle strength loss was accompanied by reduced muscle excitability. Importantly, the difference in excitability-torque correlation between groups during recovery suggests that DMD muscle function was affected by the ability to recover from strength loss more than during the contraction-induced strength loss.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"56 ","pages":"Article 106217"},"PeriodicalIF":2.8,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145341012","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}
Unlike congenital and adult phenotypes, ChDM1 often involves minimal muscular symptoms with cognitive or behavioral difficulties being the most common early indicator of the disease. These difficulties, often exacerbated by fatigue and slowness, contribute to complex disability scenarios beginning as early as kindergarten but also persisting into early adulthood. This scoping review aims to explore the neuropsychological and behavioral profile associated with ChDM1 throughout the lifespan and seeks to understand how this profile evolves with age.
In total, 24 studies were included with 416 individuals identified as having ChDM1. Alongside visuospatial, attentional/executive and social difficulties, neuropsychiatric problems appeared also to be common in this population. Depressive and anxious symptoms were consistently reported in children and adolescents with ChDM1 but appear to be less frequent in adults.
The lack of standardized outcome measures for motor, cognitive and behavioral symptoms complicate efforts to determine the true prevalence and severity of impairments across studies. Identifying tools capable of capturing developmental trajectories over a sufficiently long period, from childhood to adulthood, remains a persistent challenge.
{"title":"Neuropsychological and behavioral outcomes in childhood-onset myotonic dystrophy type 1 through lifespan: a scoping review","authors":"Isabelle Gaudet , Simon-Pierre Gagnon , Stéphanie Hamel , Noémie Gilbert , Filippia Doulou , Cynthia Gagnon , Nathalie Angeard","doi":"10.1016/j.nmd.2025.106263","DOIUrl":"10.1016/j.nmd.2025.106263","url":null,"abstract":"<div><div>Unlike congenital and adult phenotypes, ChDM1 often involves minimal muscular symptoms with cognitive or behavioral difficulties being the most common early indicator of the disease. These difficulties, often exacerbated by fatigue and slowness, contribute to complex disability scenarios beginning as early as kindergarten but also persisting into early adulthood. This scoping review aims to explore the neuropsychological and behavioral profile associated with ChDM1 throughout the lifespan and seeks to understand how this profile evolves with age.</div><div>In total, 24 studies were included with 416 individuals identified as having ChDM1. Alongside visuospatial, attentional/executive and social difficulties, neuropsychiatric problems appeared also to be common in this population. Depressive and anxious symptoms were consistently reported in children and adolescents with ChDM1 but appear to be less frequent in adults.</div><div>The lack of standardized outcome measures for motor, cognitive and behavioral symptoms complicate efforts to determine the true prevalence and severity of impairments across studies. Identifying tools capable of capturing developmental trajectories over a sufficiently long period, from childhood to adulthood, remains a persistent challenge.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"56 ","pages":"Article 106263"},"PeriodicalIF":2.8,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145523933","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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