Neuromuscular Disorders最新文献

{"title":"35PThe impact of idiopathic inflammatory myopathy on quality of life: data from a tertiary healthcare in Indonesia","authors":"L. Indrawati ,&nbsp;F. Kautharifa ,&nbsp;Y. Ramli ,&nbsp;A. Ariane ,&nbsp;F. Octaviana ,&nbsp;M. Hakim","doi":"10.1016/j.nmd.2025.105498","DOIUrl":"10.1016/j.nmd.2025.105498","url":null,"abstract":"<div><div>Idiopathic inflammatory myopathy (IIM) is the most frequent acquired myopathy. The quality of life (QoL) of IIM patients can be influenced by a variety of factors and affect physical, mental, and social aspects. Therefore, the aim of our study is to identify the QoL of IIM patients and its influencing factors. This was a cross-sectional study in the period of January to May 2024 at Dr. Cipto Mangunkusumo Hospital Jakarta, Indonesia. The QoL of IIM patients was evaluated in relation to demographic factors, clinical phenotypes, subtypes, additional examinations, and the presence of caregivers. Evaluations of QoL and factors contributing to it were carried out using the following instruments: Short-Form Health Survey-36 (SF-36), Functional Assessment of Chronic Illness Therapy–Fatigue (FACIT–F), Barthel’s Activities of Daily Living (ADL) index, Generalized Anxiety Disorder–7 (GAD–7), and Patient Health Questionnaire–9 (PHQ-9). Fifty-eight patients aged 39.09±13.08 and consisted of 69% females. The mean SF-36 score was 51.07±21.67, with physical domain mean of 42.13±21.68 and mental domain median of 56.00 (2-100). Total and each domain of the SF-36 score were associated with physical limitations, ability to move, joint involvement, pain, fatigue, anxiety, depression, and caregiver availability. Polymyositis subtype exhibits the lowest QoL scores compared to other subtypes and is correlated with overall QoL and mental domain scores. The dermatomyositis subtype correlates with physical domain scores. We did not observe QoL association with disease duration, other organ involvement, certain muscle weakness manifestations, malignancy, moon face, other IIM subtype, CK level, and autoantibodies. The SF-36 score reflected low QoL of IIM patients. The QoL was significantly impacted by the aspects of illness symptoms and medication adverse effects. Comprehensive and integrative management encompassing multiple disciplines is mandatory in IIM management.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105498"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204389","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}

{"title":"55VPDetailed analysis of muscle testing using the medical research council scale in different subgroups of idiopathic inflammatory myopathies","authors":"F. Hakim ,&nbsp;M. Snoussi ,&nbsp;S. Sakka ,&nbsp;S. Daoud ,&nbsp;N. Bouattour ,&nbsp;K. Moalla ,&nbsp;N. Charfi ,&nbsp;S. Marzouk ,&nbsp;M. Damak","doi":"10.1016/j.nmd.2025.105518","DOIUrl":"10.1016/j.nmd.2025.105518","url":null,"abstract":"<div><div>Idiopathic inflammatory myopathies (IIM) are rare autoimmune disorders with variable muscle and organ involvement across subgroups. The variability in muscle impairment between different subgroups remains poorly understood. This study utilizes the Medical Research Council (MRC) scale to analyze muscle involvement among IIM subgroups. A retrospective study was conducted in the adult neurology Dept Sfax, Tunisia, involving patients diagnosed with idiopathic inflammatory myopathies (IIM) based on the 2017 ACR-EULAR criteria or the 2018 ENMC criteria for dermatomyositis. Patients were classified into five groups: dermatomyositis (DM), polymyositis (PM), overlap myositis (OM), inclusion body myositis (IBM), and immune-mediated necrotizing myopathy (IMNM). Epidemiological and clinical data were collected and analyzed. Muscle strength was assessed in detail using the MRC scale for each individual muscle, then grouped by region (proximal or distal) and by distribution (anterior, posterior, medial, and lateral). Each region and distribution was then compared across the previously mentioned classification groups. A total of 101 patients were included: 46 DM, 34 OM, 14 PM, 6 IBM, and 1 IMNM. The mean age was 44.91 years (SD = 19.15, range 3–91 years), with a sex ratio of 0.4. Asymmetric weakness correlated with IBM diagnosis (50%, p=0.04). PM exhibited the most severe proximal weakness in both upper and lower limbs (Median proximal MRC score: 3.35, p = 0.03). DM had the least severe proximal weakness in the lower limbs (Median proximal MRC score: 4.09, p &lt; 0.01), while IBM displayed the least severe proximal weakness in the upper limbs (mean MRC score: 4.85, p=0.089). IBM had the most pronounced distal weakness in both upper and lower limbs (mean MRC score: 3.75, p=0.048). No significant correlation was observed between the subgroups regarding the distribution of anterior, posterior, medial, or lateral deficits. This study highlights significant differences in muscle involvement severity among IIM subgroups, emphasizing the importance of precise muscle testing in diagnosis and classification.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105518"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204449","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}

{"title":"187PPredicting long-term trajectories of performance of upper limb 2.0 (PUL) score in patients with Duchenne muscular dystrophy (DMD) via remote analytical collaboration","authors":"M. Michaëls ,&nbsp;J. Freimark ,&nbsp;E. Billmyer ,&nbsp;R. Hoek ,&nbsp;Y. Krom ,&nbsp;E. Fleerakkers ,&nbsp;M. van der Holst ,&nbsp;K. Helleman ,&nbsp;P. van Weperen ,&nbsp;C. Straathof ,&nbsp;J. Marden ,&nbsp;Z. Chen ,&nbsp;W. Zhang ,&nbsp;J. Signorovitch ,&nbsp;S. Ward ,&nbsp;E. Niks","doi":"10.1016/j.nmd.2025.105540","DOIUrl":"10.1016/j.nmd.2025.105540","url":null,"abstract":"<div><div>PUL 2.0 is a key functional measure for assessing disease progression in DMD, especially after loss of ambulation, and has been used as an outcome in clinical trials. Predictive models for PUL trajectories can be used to contextualize trial outcomes, especially when there are no placebo controls. Additionally, understanding which patient characteristics are predictive of future changes in PUL can help inform clinical trial design. We developed a multivariable prognostic model for multi-year changes in PUL based on single-center real-world data (RWD) from patients with DMD. PUL data was modelled at site with RWD as input and without the need for sharing RWD. Change in PUL total score (ΔPUL) was modeled over time as a function of baseline age, PUL, and ambulatory status. Baseline was defined as the first visit with PUL entry item score of 1-5. Predictive performance was evaluated using 5-fold cross-validation (5-CV). Sixty-nine patients were included with a mean age of 14.3y (SD 5.9) at baseline, of which 52 (75.4%) were non-ambulant. At baseline, mean PUL was 25.9 (SD 11.1) and 37 patients (53.6%) had a PUL entry item score of 5, while 3 (4.4%), 10 (14.5%), 4 (5.8%) and 15 patients (21.7%) had an entry item score of 4, 3, 2, and 1, respectively. Annualized ΔPUL was -1.07 and the average patient had 3.5 PUL assessments post-baseline spanning a mean of 3.7 years of follow-up. The model including baseline age explained 55% of variation in ΔPUL with mean 5-CV prediction errors of ±4.5 overall and ±3.2, 4.3, 4.0 and 5.8 units at 1, 2, 3 and 4 years, respectively. A model excluding baseline age explained 52% of variation in ΔPUL. In both models, baseline PUL and ambulatory status were significant predictors of long-term ΔPUL trajectories. The use of widely available baseline characteristics to predict multi-year ΔPUL supports the potential for broad application of these models. Further validation is warranted to assess generalizability and additional prognostic factors.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105540"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204498","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}

{"title":"299PA generalizable deep-learning muscle segmentation model for multicentre and multi-study muscle MRI in neuromuscular diseases","authors":"C Bolaño Diaz ,&nbsp;J. Verdu Diaz ,&nbsp;A. Gonzalez Chamorro ,&nbsp;S. Fitzsimmons ,&nbsp;D. Hao ,&nbsp;G. Kocak ,&nbsp;J. Mannion ,&nbsp;S. Wandera ,&nbsp;H. Borland ,&nbsp;Myo-Guide Consortium ,&nbsp;G. Tasca ,&nbsp;J. Bacardit ,&nbsp;V. Straub ,&nbsp;J. Diaz Manera","doi":"10.1016/j.nmd.2025.105547","DOIUrl":"10.1016/j.nmd.2025.105547","url":null,"abstract":"<div><div>Neuromuscular diseases (NMDs) are a heterogeneous group of rare conditions that impair muscle and nerve function, leading to progressive weakness and disability. Intramuscular replacement of muscle by fat, measured through muscle MRI (MRI), is a robust imaging biomarker of disease severity and progression. Its accurate quantification requires precise segmentation of individual muscles, a process that is traditionally manual, time-consuming, and prone to inter-operator variability. Recent deep learning (DL) approaches have demonstrated the potential to automate muscle segmentation. However, most published models use data from a single site or protocol, with their performance often degrading when applied to new environments. This limitation hinders the clinical adoption and scalability of these tools in real-world, multicenter settings. To address this gap, we developed a DL-based tool for automatic segmentation of individual muscles in T1-weighted MRI of the pelvis and lower limbs. The system comprises three convolutional neural networks tailored to a specific anatomical region (pelvis, thighs or lower legs) and trained on a dataset of 253 scans of 11 distinct NMDs and undiagnosed cases, from 14 sites. External validation was incorporated during training and evaluation to explicitly assess and promote generalizability. For every anatomical region, the resulting automatic segmentation models achieved high accuracy (F1-score pelvis: 09626, thighs: 0.9624 and lower leg: 0.9682) and efficiency (segmentation time under one minute), even on scans of varying resolution, protocol and disease severity. The model showed lower performance on muscles oriented in parallel to the axial plane, such as the internal and external obturators and quadratus femoris. In conclusion, our study presents a scalable, accurate, and generalizable automated muscle segmentation tool for skeletal muscle MRIs of the pelvis and lower limbs. By leveraging a heterogeneous, multi-site dataset and explicitly incorporating external validation, we demonstrate that high performance can be maintained across diverse clinical environments and imaging conditions. This advancement holds significant promise for streamlining clinical workflows, enhancing disease monitoring, and accelerating large-scale neuromuscular research efforts.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105547"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204505","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}

{"title":"32PPerimysial inflammation with abundant macrophages","authors":"S. Puusepp ,&nbsp;N. Kiseleva ,&nbsp;K. Kannel ,&nbsp;W. Stenzel ,&nbsp;H. Goebel","doi":"10.1016/j.nmd.2025.105495","DOIUrl":"10.1016/j.nmd.2025.105495","url":null,"abstract":"<div><div>The field of inflammatory myopathies (IM) is constantly evolving, with new disease entities emerging. A subset of patients have been noticed to exhibit an unusually abundant macrophage infiltration in muscle tissue, suggesting a distinct IM subgroup. Here, we describe another case with numerous perimysial macrophages and a multisystemic clinical picture. A male patient with disease onset at age 48 presented cognitive disturbances and epileptic seizures, leading to a diagnosis of seronegative autoimmune encephalitis with brain MRI showing signs of limbic encephalitis in the mesiotemporal region. He later developed persistent fever, increased CRP, hepatomegaly, arthralgias, joint edema, and progressive proximal muscle weakness and atrophy. The CK levels were normal, and several panels of autoantibodies, including myositis- and encephalitis-associated, tested negative. MRI of the thighs showed muscle edema and subcutaneous fat infiltration. Muscle biopsy from the left thigh revealed marked perimysial inflammation with abundant macrophages, perimysial alkaline phosphatase positivity, MHC class I and II upregulation on the muscle fibers, and sarcolemmal perifascicular complement deposition. Extensive testing did not reveal any malignancies or infections. Treatment with steroids, Methotrexate, and Rituximab improved muscle and cognitive symptoms. One differential diagnosis, macrophagic myofasciitis, linked to vaccine-related aluminum deposits, was ruled out as the macrophages in our case did not contain diastase-resistant material. Inflammatory myopathy with abundant macrophages (IMAM) shares features with dermatomyositis but is histopathologically distinct with predominant CD68+ and few CD4+ cells. Unlike a previously reported IMAM case with absent MHC class I and II expression, our patient exhibited upregulation on the muscle fibers. IMAM has been associated with hemophagocytosis, cutaneous panniculitis, Sweets syndrome, and macrophage activation syndrome. However, autoimmune encephalitis has not been described before. In summary, we presented another case of macrophage-predominant myositis with novel features.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105495"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204100","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}

{"title":"177PLongitudinal stride-level evaluation of ambulatory function with ankle wearable technology in ambulant DMD patients below 4 years old","authors":"M. Poleur ,&nbsp;G. Parinello ,&nbsp;E. Vrščaj ,&nbsp;C. Bisson ,&nbsp;C. Cluzeau ,&nbsp;A. Daron ,&nbsp;University Children's Hospital L ,&nbsp;D. Osredkar ,&nbsp;P. Strijbos ,&nbsp;D. Eggenspieler ,&nbsp;L. Servais","doi":"10.1016/j.nmd.2025.105530","DOIUrl":"10.1016/j.nmd.2025.105530","url":null,"abstract":"<div><div>Assessing ambulation in patients with Duchenne muscular dystrophy (DMD) below 4 years old (yo) is challenging with available in-clinic outcomes, yet crucial for therapeutic development. Using a wearable device to accurately measure ambulation in daily life, the European Medicines Agency recently qualified SV95C (measuring the 5% most rapid strides) as primary endpoint in ambulant DMD ≥4 yo. The ActiLiège-Next study enrolled patients and controls to assess adherence to device wear, and SV95C robustness &amp; sensitivity in children 1-4 yo. Patients were asked to wear 2 ankle sensors daily for the first 3 months and then for 1 month every 3 months, and controls for 1 month every 6 months. Twenty-six patients (median age, min-max: 36 months, 16-47) and 32 controls (31 months, 13-48) were enrolled. Three patients were on steroid before enrolment, 2 started upon enrolment and 3 started after the 6-month visit. As of Jan 2025, all but one patients (n=25) and all controls (n=32) showed good adherence to sensor wear. SV95C reliability was excellent with an intraclass correlation coefficient of 0.99 for patients (n=22) and controls (n=30). Mean baseline SV95C was significantly different between the 2 groups (p&lt;0.005). Available 6- and 12-month data suggested a stronger SV95C increase for controls than patients: mean change from baseline was 0.21m/s (standardized response mean, SRM=0.87, n=15) and 0.35m/s (SRM=3.33, n=6) for controls, and 0.12m/s (SRM=0.68, n=23) and 0.18m/s (SRM=1.53, n=7) for patients, respectively. For the 3 patients starting steroid after the 6-month visit, mean SV95C decreased by -0.2m/s/year before starting steroids and increased by 1.13m/s/year after starting steroids. All available longitudinal data and steroid effect on SV95C change will be shared at the congress. These results strongly suggest that SV95C could be the first robust functional motor measure that can be used in all ambulant DMD including those &lt;4 yo, and enable development of treatments or therapeutic strategy in this age group.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105530"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204102","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}

{"title":"46PThe endothelial DLL4-muscular NOTCH2 axis drives muscle atrophy in dermatomyositis: insights from single-nucleus transcriptomics","authors":"S. Hayashi,&nbsp;M. Kato,&nbsp;S. Noguchi,&nbsp;I. Nishino","doi":"10.1016/j.nmd.2025.105509","DOIUrl":"10.1016/j.nmd.2025.105509","url":null,"abstract":"<div><div>Muscle atrophy, a debilitating feature of neuromuscular disorders, remains mechanistically unresolved. Recent breakthroughs in murine models identified the endothelial-derived NOTCH ligand DLL4 as a critical activator of muscular NOTCH2, triggering atrophy in disuse and diabetes. However, its role in human muscle diseases is unexplored. This study investigates the DLL4–NOTCH2 axis in autoimmune and hereditary muscle diseases, focusing on its therapeutic potential. Single-nucleus RNA sequencing (snRNA-seq) was performed on frozen muscle biopsies from 34 patients: autoimmune myositis (inclusion body myositis (IBM: n=2), immune-mediated necrotizing myopathy (IMNM: n=4), anti-synthetase syndrome (ASS: n=4), and dermatomyositis (DM: n=6), hereditary muscle diseases (n=16), ALS (n=2), and non-disease controls (n=4). DLL4 and NOTCH2 expression was validated via immunofluorescence and immunoelectron microscopy. Proximity ligation assay (PLA) assessed direct interactions. snRNA-seq revealed that DLL4 was exclusively expressed in endothelial cells (ECs), with marked upregulation in DM versus other groups. NOTCH2 was highly expressed in the affected myonuclei in several muscle diseases, including DM. NOTCH2 signal was localized on the sarcolemma, and DLL4 positive ECs densely surrounded small-diameter fibers in DM. In situ PLA revealed that direct DLL4-NOTCH2 interactions occur in DM. Our results indicate that the endothelial DLL4–muscular Notch2 axis is a potential driver of muscle atrophy in DM. Targeting this pathway could mitigate muscle wasting, offering a novel therapeutic strategy for myositis and related disorders.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105509"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204188","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}

{"title":"05ORedefining triple a syndrome: a multinational study of the neuromuscular phenotype in the largest genetically confirmed cohort to date","authors":"M. Oeztuerk ,&nbsp;S. Leonard-Louis ,&nbsp;D. Natera de Benito ,&nbsp;A. Nascimento ,&nbsp;C. Ortez ,&nbsp;V. Virić ,&nbsp;Z. Stevic ,&nbsp;C. Nelke ,&nbsp;A. Schaenzer ,&nbsp;S. Previtali ,&nbsp;M. Cehic ,&nbsp;K. Dumic ,&nbsp;S. Peric ,&nbsp;A. Roos ,&nbsp;T. Ruck","doi":"10.1016/j.nmd.2025.105463","DOIUrl":"10.1016/j.nmd.2025.105463","url":null,"abstract":"&lt;div&gt;&lt;div&gt;Triple A Syndrome (AAAS) is a rare autosomal recessive multisystem disorder, originally described in 1978 and traditionally defined by the triad of achalasia, alacrima, and ACTH-resistant adrenal insufficiency. While these features form the historical foundation for diagnosis, clinical experience increasingly suggests that this classification does not fully reflect the disease’s breadth. In particular, neurological involvement, and specifically neuromuscular dysfunction, appears to be more than an occasional comorbidity. It is often an early, progressive, and disabling component of the disease. Yet, it remains under-recognized, in part due to the dominance of endocrine features in the existing diagnostic framework. In this study, we examined the neuromuscular phenotype of the largest genetically confirmed AAAS cohort reported to date (n=44), with patients recruited through a multinational network. To minimize referral and selection bias, recruitment extended beyond neurology and included pediatricians, endocrinologists, gastroenterologists, and geneticists. All patients included exhibited neurological symptoms, enabling systematic investigation of the neuromuscular dimension of AAAS. Standardized clinical assessments were performed, including detailed neurological examinations, nerve conduction studies, electromyography, muscle MRI, and muscle biopsy. Electrophysiological evaluation consistently revealed sensorimotor axonal neuropathy across the cohort. Muscle MRI showed variable yet consistent signs of atrophy and selective involvement, while histopathology revealed non-specific myopathic changes. Importantly, eight previously unreported pathogenic variants in the AAAS gene were identified, allowing for refined genotype–phenotype correlations. Variants predicted to affect ALADIN localization at the nuclear pore complex were associated with more pronounced neuromuscular involvement. Proteomic analysis of skeletal muscle tissue offered new insights into disease pathophysiology. The data revealed upregulation of pathways involved in sarcomere organization, cytoskeletal architecture, and muscle contraction. At the same time, key metabolic processes - particularly glycolysis and gluconeogenesis -were downregulated. This pattern suggests a dual mechanism of structural and metabolic dysfunction within affected muscle tissue. The consistency of these alterations across patients further supports a primary role of neuromuscular pathology in the disease. Our findings demonstrate that neuromuscular dysfunction is a central feature of AAAS, not merely an associated symptom. This has direct implications for clinical practice, as neurological signs may precede or occur independently of the classical triad. The current definition fails to capture the full clinical spectrum and may delay diagnosis. We therefore propose a reclassification - and possible renaming- of AAAS as a neuromuscular multisystem disorder with endocrine, autonomic, and gastrointest","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105463"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204246","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}

{"title":"18PGuillain-Barré syndrome in children: insights from a 20-year retrospective cohort study at a tertiary referral center","authors":"H. Chávez Gloria ,&nbsp;A. Escher ,&nbsp;L. Carrera - García ,&nbsp;J. Exposito - Escudero ,&nbsp;A. Nascimento ,&nbsp;D. Natera - De Benito ,&nbsp;C. Ortez Gonzalez","doi":"10.1016/j.nmd.2025.105482","DOIUrl":"10.1016/j.nmd.2025.105482","url":null,"abstract":"<div><div>Guillain-Barré syndrome (GBS) is the leading cause of acute flaccid paralysis in children. It is characterized by rapid-onset, bilateral, and symmetrical sensorimotor symptoms, typically progressing from the lower to upper limbs. Although clinical presentation may vary, severe cases can involve autonomic dysfunction. Electrophysiological studies are key for subtype classification: acute inflammatory demyelinating polyneuropathy (AIDP), acute motor axonal neuropathy (AMAN), and acute motor-sensory axonal neuropathy (AMSAN). Rare variants include Miller Fisher syndrome, the pharyngo-cervical-brachial variant, and Bickerstaff encephalitis. This retrospective observational study analyzed the natural history of pediatric GBS through electronic medical records of patients followed in a neuromuscular clinic over the past 20 years. A total of 118 children (mean age: 7 years) were included. Time from symptom onset to medical attention averaged 3 days. Common initial symptoms were pain, distal weakness, and gait disturbance. Most patients presented with ascending and distal weakness; 40 showed atypical features, mainly bulbar involvement. At admission, ascending weakness, distal weakness, and generalized areflexia were predominant. Electrophysiological subtypes were: AMAN (56%), AIDP (30%), AMSAN (9%), and Miller Fisher (5%). Cytoalbuminologic dissociation was present in 44% of lumbar punctures. Anti-GM1 antibodies were the most frequently detected. Loss of ambulation occurred in 33%, with recovery within 2–3 months. Central nervous system involvement was observed in 15 patients, presenting with brainstem edema, rhombencephalitis, and diffuse spinal cord abnormalities on MRI. Severe cases (Paradiso scale Grades IV–V) responded well to combined therapy with high-dose methylprednisolone pulses plus plasmapheresis or immunoadsorption. In IVIG-refractory patients, this combination also proved effective. At one year, 21 patients had sequelae, primarily distal weakness. During follow-up, 9 patients showed progression to chronic inflammatory demyelinating polyneuropathy (CIDP), requiring long-term immunomodulatory management. In conclusion, pediatric GBS shows heterogenous onset. AMAN was the most prevalent subtype. Anti-GM1 antibodies were common. Functional recovery, including ambulation, generally occurred within 6 months, with a low incidence of long-term sequelae. In severe cases unresponsive to IVIG, a favorable response was observed with combined therapy using methylprednisolone pulses and plasmapheresis or immunoadsorption.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105482"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204342","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}

{"title":"184PUltrasound vs MRI for assessing the EDB muscle in Duchenne muscular dystrophy","authors":"P. Karachunski,&nbsp;J. Martone,&nbsp;M. Stark,&nbsp;D. Nascene,&nbsp;T. Nordseth,&nbsp;P. Kang","doi":"10.1016/j.nmd.2025.105537","DOIUrl":"10.1016/j.nmd.2025.105537","url":null,"abstract":"<div><div>Despite recent advances in disease modifying therapies for Duchenne muscular dystrophy (DMD), treatment efficacy remains limited. New approaches are needed to restore muscle fibers and better preserve muscle structure and function. Identification and frequent monitoring of appropriate muscles in clinical trials require non-invasive bedside techniques such as ultrasound (US). To meet this goal, we studied the feasibility of using US to assess changes in the extensor digitorum brevis (EDB) muscle in DMD patients and correlated these findings with MRI. The EDB muscle is an accessible target muscle for first-in-human therapeutic studies. We compared the severity of muscle changes in the EDB and tibialis anterior (TA) muscles. Seven DMD patients, aged over 10 years, underwent EDB ultrasound and were quantitatively assessed using grayscale analysis with ImageJ software. Among these, five participants also underwent MRI of the EDB muscle, with muscle involvement graded semi-quantitatively by a radiologist. Four participants underwent both US and MRI evaluations. Four participants with EDB images underwent functional assessment testing, and all participants’ ambulatory status was assessed. Comparative analysis of US and MR EDB muscle images showed correlation with a coefficient of determination (R 2) of 0.58. The TA exhibited a higher grayscale value than the EDB in 100% of patients, (t(5) = 3.14, p = 0.0257). Muscle volumes measured by US and MRI were comparable. Functional assessments, including ambulatory status and hand-grip strength correlated negatively with the mean EDB gray-scale values. This pilot study provides evidence that US correlates with MRI findings and functional profiles, demonstrating the value of US as a reliable, non-invasive tool for monitoring disease progression and treatment responses in clinical trials. This study also highlighted the delayed involvement of the EDB muscle, making it suitable for early clinical trials involving patients with advanced disease and even non-ambulatory DMD individuals.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105537"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204356","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}