Neuromuscular Disorders最新文献

{"title":"Significance of incidental copy number variants in the Duchenne muscular dystrophy gene","authors":"Ieke B. Ginjaar ,&nbsp;Marjolein Kriek ,&nbsp;Mariëtte J.V. Hoffer ,&nbsp;Renske Oegema ,&nbsp;Ellen van Binsbergen ,&nbsp;Karin E.M. Diderich ,&nbsp;Laura J.C.M. van Zutven ,&nbsp;Floor A.M. Duijkers ,&nbsp;Alida C. Knegt ,&nbsp;Corrie E. Erasmus ,&nbsp;Nicole de Leeuw ,&nbsp;Joke B.G.M. Verheij ,&nbsp;Trijnie Dijkhuizen ,&nbsp;Hermine A. van Duyvenvoorde","doi":"10.1016/j.nmd.2025.106219","DOIUrl":"10.1016/j.nmd.2025.106219","url":null,"abstract":"<div><div>We report results of laboratory and clinical investigations in 32 cases with incidental findings of large, intragenic deletions and gains in the huge Duchenne muscular dystrophy gene using microarray analysis. The patients and prenatal cases were referred for various reasons unrelated to DMD. Multiplex Ligation-dependent Probe Amplification of the <em>DMD</em> gene confirmed and refined deletions (19/32) and duplications (13/32). In 18 of the 32 cases a dystrophinopathy diagnosis could be established; 10 males were found to have dystrophinopathy and eight females were diagnosed as carriers. Sixteen of them had a pathogenic deletion and two had a pathogenic duplication. In three of the 32 cases the variants remained of unknown significance. In one of the 32 cases dystrophinopathy could be excluded. In the remaining 10 cases, the variant was likely benign. Our results show the importance of additional genetic analyses and clinical follow up after potentially incidental findings of copy number variants in the <em>DMD</em> gene. Moreover, our study provides insight in the possible effect of intragenic copy number variants in the <em>DMD</em> gene. Therefore, the article can provide guidance in the interpretation of copy number variants in the <em>DMD</em> gene, for example once DMD is included in newborn screening.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"54 ","pages":"Article 106219"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145192209","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":"An observational longitudinal study of congenital myasthenic syndromes","authors":"Hayley Ramjattan ,&nbsp;Leighann Henehan ,&nbsp;Sithara Ramdas ,&nbsp;Jacqueline Palace","doi":"10.1016/j.nmd.2025.106209","DOIUrl":"10.1016/j.nmd.2025.106209","url":null,"abstract":"<div><div>Congenital Myasthenic Syndromes (CMS) are a group of inherited disorders characterised by fatigable muscle weakness. There are currently no validated outcome measures in CMS. We conducted a prospective exploratory observational study in 49 CMS patients. The primary aim was to explore relevant and reliable outcome measures for assessing and monitoring change. Assessments included Quantitative Myasthenia Gravis score, Myasthenia Gravis Activities of Daily Living, six-minute-walk-test and sit to stand in one minute, in addition to others. Patients were seen 2–4 times over a 2-year period. Median age was 25.5 (range 1–72) years. Subtypes included AChR-deficiency (n = 15), AGRN-DOK7 clustering complex (n = 15), RAPSN (n = 6), COLQ (n = 5), others (n = 8). Ptosis was highest in AChR-deficiency and limb fatigue was highest in AGRN-DOK7 and COLQ. Median sit to stand in one minute was 22 (range 6–45), median total distance walked in six-minute-walk-test was 434 metres (range 0–711 m). A correlation was noted between sit to stand and six-minute-walk-test (R² = 0.291, p-value &lt;0.001) and between total Quantitative Myasthenia Gravis and Myasthenia Gravis Activities of Daily Living scores (R² = 0.2851, p-value &lt;0.001). This is the first study exploring the use of outcome measures in a CMS population, highlighting the variability in fatigue across CMS subtypes and the limitations of outcome measures validated in myasthenia gravis for CMS.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"54 ","pages":"Article 106209"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144933015","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":"300PThe role of muscle MRI in mild neuromuscular disorders. where are we?","authors":"G. Astrea ,&nbsp;B. Buchignani ,&nbsp;M. Schifino ,&nbsp;A. Rubegni ,&nbsp;D. Galatolo ,&nbsp;R. Pasquariello ,&nbsp;R. Battini ,&nbsp;F. Santorelli","doi":"10.1016/j.nmd.2025.105548","DOIUrl":"10.1016/j.nmd.2025.105548","url":null,"abstract":"<div><div>There is increasing evidence that muscle magnetic resonance imaging (MRI) can be a valuable tool to improve the diagnostic workup of patients with inherited neuromuscular disorders (NMD), as it can also guide the genetic prioritization and the follow-up of patients as the disease progresses, or during clinical trials. In order to explore the sensitivity and specificity of muscle MRI for the early detection or confirmation of NMD, we selected all the patients who had come to our clinical attention for hyperckaemia/muscle weakness over the past two years and who had also undergone at least one muscle MRI study and exome sequencing. We selected 93 patients aged between 1 and 86 years. Of these, 32 received a conclusive diagnosis of NMD (34%), including 25 (78%) who had a muscle MRI consistent with the genetic disorder, and 7 who presented asymptomatic hyperckaemia and a negative MRI. Of these, 5 patients were associated with a heterozygous pathogenetic variant in RYR1, one harbored a heterozygous variant in MYH7 mutation, and one was a presymptomatic Pompe disease. Of the 93 patients, 28 had a positive MRI, 2 harbors VUS in large genes (COL6 and TTN), and one was negative. In 26/93 patients, the muscle MRI highlighted unspecific findings; these patients harbored heterozygous mutations in autosomal recessive genes or VUS in autosomal dominant genes. In 39/93 the muscle MRIs were negative and in 5 cases we reached a diagnosis of a different disorder. Twenty cases harbored VUS in large genes unrelated to their muscular picture (TTN, COL6, FLNC) and 7 carried only benign variants. The diagnostic rate, especially in mild cases of NMD, is compatible with what is described in literature. Muscle MRI was confirmed as an important tool in the work up of neuromuscular diseases, demonstrating a sensibility of 78% and a specificity of 100% (12 patients). A better definition of both morphological and functional techniques to improve biochemical and physiological imaging of skeletal muscle and their integration with analysis techniques on Big Data could be the answer to the gap in the use of MRI in mild NMD. This work was supported by an EU Horizon 2020 project grant termed “Computational Models for New Patient Stratification Strategies of Neuromuscular Disorders; ComPaSS-NMD” (Horizon2020 Project-ID 101080874).</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105548"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204096","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":"07PA multicenter retrospective cross-sectional study of juvenile-onset anti-HMGCR myopathy","authors":"W. Zhu ,&nbsp;N. Cheng ,&nbsp;M. Diao ,&nbsp;L. Sun ,&nbsp;B. Huang ,&nbsp;S. Hao ,&nbsp;L. Zeng","doi":"10.1016/j.nmd.2025.105471","DOIUrl":"10.1016/j.nmd.2025.105471","url":null,"abstract":"<div><div>Anti-HMGCR antibody-positive immune-mediated necrotizing myopathy (IMNM) is a distinct subtype of inflammatory myopathy. Although increasingly recognized in children, its clinical features remain under-characterized. Juvenile-onset anti-HMGCR myopathy was defined as seropositive for anti-HMGCR antibodies with onset of hyperCKemia (with or without proximal muscle weakness) before the age of 18, and exclusion of toxin-, drug-, or infection-related myopathies. We retrospectively analyzed patients with juvenile-onset anti-HMGCR myopathy from four hospitals in China between 2010 and 2024. Clinical features, muscle pathology, and response to immunotherapy were assessed. Thirty patients were included (66.7% female), with a median onset age of 8.5 years. Ten (33.3%) presented with asymptomatic hyperCKemia. Among those with weakness, 8 had acute/subacute and 12 chronic onset. No patient had statin exposure; 4 had preceding infections. Median diagnostic delay was 2 years; 8 had delays &gt;10 years. At onset, all had proximal lower limb weakness, 65% axial weakness, increasing to 95.8% during follow-up. Three required long-term ventilation; one died of respiratory failure. Muscle biopsies (n=28) showed fiber size variation (89.3%) and necrosis/regeneration (78.6%). Even patients with isolated hyperCKemia showed pathological changes. Among 24 treated patients, response rates were 50% (steroids + 1 IS), 33% (steroids + 2 IS), and 71.4% (steroids + IVIG + IS). Juvenile-onset anti-HMGCR myopathy may initially present as asymptomatic hyperCKemia yet show significant pathological and functional deterioration over time. Respiratory failure is a significant cause of morbidity and mortality as the disease progresses. Early recognition and IVIG-based therapy are critical to improve outcomes.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105471"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204097","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":"27PNon-caseating granulomatous myopathy associated with thymoma and atypical presentation of myasthenia gravis","authors":"A. Meller,&nbsp;N. Shankar,&nbsp;R. Traub,&nbsp;A. Mehrabyan","doi":"10.1016/j.nmd.2025.105490","DOIUrl":"10.1016/j.nmd.2025.105490","url":null,"abstract":"<div><div>Non-caseating granulomatous myositis is a rare inflammatory myopathy that is most associated with sarcoidosis, and to a lesser degree with other inflammatory disorders including inclusion body myositis and myasthenia gravis (MG). When associated with MG, a thymoma is also typically present. We report a case of non-caseating granulomatous myositis associated with thymoma and an atypical presentation of acetylcholine receptor (AChR) positive MG. A 64-year-old woman undergoing workup for pneumonia was found to have a large anterior mediastinal mass, which was diagnosed as an AB type thymoma and resected in October 2023. She was also found to have AChR antibody positivity but lacked a clinical myasthenic syndrome at the time. In November 2024 she presented with a 2-month worsening of painless limb muscle weakness associated with severe edema, more pronounced in the arms than legs. Weakness progressed to the point where she was no longer able to feed herself with a utensil and could not walk as long as previously. Prior baseline was 2 hours daily at the gym. She denied any dysarthria, dysphagia, diplopia, dyspnea, numbness or tingling, bowel or bladder dysfunction. Serology was consistent with myopathy and included CK elevated to greater than 6,000. Electrodiagnostic studies revealed irritable myopathy, and muscle biopsy confirmed the presence of non-caseating granulomas. No evidence of sarcoidosis was found on imaging or serology. She was found again to have positive AChR antibodies but lacked typical oculopharyngeal symptoms of MG. However, she did have severe upper limb weakness more profound in the distal muscle groups, as well as positive repetitive stimulation testing (performed at the ADM muscle with stimulation of the ulnar nerve); these findings were most suggestive of an atypical MG presentation. She was treated with IVIG and oral prednisone and had significant improvement at one month follow up. We report a severe case of non-caseating granulomatous myositis associated with recent thymectomy and an atypical presentation of AChR positive myasthenia gravis. We suggest that granulomatous myositis should be suspected in subacute onset of upper limb distal predominant weakness associated with edema and rhabdomyolysis in the setting of history of thymoma and MG.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105490"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204114","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":"Summary of the Contents","authors":"","doi":"10.1016/S0960-8966(25)00952-6","DOIUrl":"10.1016/S0960-8966(25)00952-6","url":null,"abstract":"","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 106225"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204176","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":"43PSporadic late-onset nemaline myopathy with monoclonal gammopathy: defining a more aggressive subtype with worse prognosis","authors":"A. Lauletta,&nbsp;G. Merlonghi,&nbsp;F. Forcina,&nbsp;L. Fionda,&nbsp;L. Leonardi,&nbsp;R. Costanzo,&nbsp;L. Tufano,&nbsp;E. Rossini,&nbsp;D. Marando,&nbsp;V. Vera,&nbsp;G. Antonini,&nbsp;S. Morino,&nbsp;M. Garibaldi","doi":"10.1016/j.nmd.2025.105506","DOIUrl":"10.1016/j.nmd.2025.105506","url":null,"abstract":"<div><div>Sporadic Late-Onset Nemaline Myopathy (SLONM) is an adult-onset acquired myopathy characterized by progressive weakness and, in severe cases, respiratory involvement. A notable proportion is associated with monoclonal gammopathy of undetermined significance (SLONM-MGUS), suggesting an immune-mediated pathogenesis. Although the presence of monoclonal gammopathy has known clinical and therapeutic implications, its contribution to disease severity and progression remains poorly defined. To assess clinical, histological, and prognostic differences between SLONM patients with (SLONM-MGUS) and without (SLONM-noMGUS) monoclonal gammopathy through a systematic review and single-center analysis. We reviewed literature spanning 25 years and included five patients from our institution (Sant’Andrea Hospital, SAPIENZA University of Rome). Clinical presentations, histopathological features, treatments, and outcomes were compared between SLONM-MGUS and SLONM-noMGUS groups. Of 144 cases analyzed, 47% had SLONM-MGUS. This subgroup exhibited a more severe course, with higher rates of respiratory and cardiac involvement (p&lt;0.05), and reduced treatment responsiveness. Serum creatine kinase (CK) levels were mildly elevated overall (mean 203.7 U/L), but predominantly normal in SLONM-MGUS (p = 0.01). Muscle biopsies in SLONM-MGUS patients showed more abundant nemaline rods, frequently accompanied by cytoplasmic bodies, and lobulated fibers, though often requiring repeat biopsies. Necrosis and inflammatory infiltrates were less frequent in this subgroup. Common treatments included corticosteroids, IVIg, and autologous stem cell transplantation (ASCT), However, complete recovery was rare, especially among SLONM-MGUS patients (p &lt; 0.001), who also exhibited higher mortality and poorer prognosis. SLONM-MGUS represents a clinically distinct and more aggressive variant, frequently leading to worse outcomes. These findings highlight the need for early recognition and tailored therapeutic strategies.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105506"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204185","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":"12PBioengineered muscle-on-a-chip for the study of inclusion body myositis","authors":"F. Andújar-Sánchez ,&nbsp;X. Fernández-Garibay ,&nbsp;L. Valls-Roca ,&nbsp;A. Vilaseca-Capel ,&nbsp;H. Deng ,&nbsp;E. Tobias ,&nbsp;M. Guitart-Mampel ,&nbsp;A. Tejedera-Vilafranca ,&nbsp;L. Farré-Tarrats ,&nbsp;F. Tort ,&nbsp;A. Selva-O'Callaghan ,&nbsp;P. Moreno-Lozano ,&nbsp;A. Matas ,&nbsp;J. Fernández-Costa ,&nbsp;J. Ramón-Azcón ,&nbsp;J. Milisenda ,&nbsp;G. Garrabou","doi":"10.1016/j.nmd.2025.105476","DOIUrl":"10.1016/j.nmd.2025.105476","url":null,"abstract":"<div><div>Inclusion Body Myositis (IBM) is an inflammatory myopathy affecting 1-180 patients per million, mainly over 50 years old. It is characterized by muscle weakness of quadriceps and forearms. Diagnosis involves pathological analysis of muscle biopsies with degenerative (fiber size variation, vacuolization), immunological (MHC-I expression, CD8+ cell infiltrates), and mitochondrial (ragged red and COX-/SDH+ fibers) changes. There are no effective treatments, and current models for drug testing fail to reproduce pathological muscle structure and microenvironment. We aim to overcome this limitation using patient-derived 3D Muscle-on-a-Chip (MoC) platforms. We encapsulated an immortalized myoblast control line exposed to sera from 4 IBM and 4 healthy subjects for 48, 96, and 144 hours. We validated the model by checking skeletal muscle structure (sarcomeric alpha actinin staining) and function (Fluo-8 calcium flux). We performed Electric Pulse Stimulation to measure biophysical parameters and molecular phenotyping to characterize functional impairment. Biophysical parameters of IBM MoCs were only measurable at 48 and 96h (144h-constructs were broken) and showed abnormal strength and contraction dynamics (20%-reduced in IBM). TDP43 and HLA-I markers of degeneration and inflammation showed aberrant pattern expression. Mitochondrial function was conserved in IBM tissues in terms of lactate secretion and mitochondrial network but affected at functional level in COX/CS activity (55%-decreased at 144h; 0.18 vs. 0.40 AU) leading to higher maximal respiration (56%-increased at 48h; 655.44 vs 420.20 pmol/min/ug). Our findings indicate tissue degeneration and muscle impairment in IBM-MoCs, resembling some pathological features of disease at degenerative, inflammatory, and mitochondrial level. MoC technology is a robust platform to study IBM, paving the way to model the disease and foster therapeutics.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105476"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204295","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":"16PComparative evaluation of respiratory assessments in inclusion body myositis from INSPIRE-IBM study","authors":"I. Hernandez ,&nbsp;M. Wencel ,&nbsp;N. Goyal ,&nbsp;O. Carbunar ,&nbsp;M. Freimer ,&nbsp;M. Dimachkie ,&nbsp;C. Quinn ,&nbsp;T. Lloyd ,&nbsp;P. Mohassel ,&nbsp;C. Weihl ,&nbsp;A. Shaibani ,&nbsp;L. Wang ,&nbsp;N. Chahin ,&nbsp;A. Amato ,&nbsp;M. Wicklund ,&nbsp;S. Dixon ,&nbsp;P. Shieh ,&nbsp;L. Herbelin ,&nbsp;R. Barohn ,&nbsp;T. Mozaffar","doi":"10.1016/j.nmd.2025.105480","DOIUrl":"10.1016/j.nmd.2025.105480","url":null,"abstract":"<div><div>Inclusion body myositis (IBM) is the most common acquired muscle disease in individuals over 40, characterized by progressive, asymmetric muscle weakness that impairs mobility and daily functioning. Respiratory failure is a frequent complication. Previous studies in small IBM cohorts have shown that seropositivity for NT5c1A antibodies is associated with significantly reduced pulmonary function, particularly in maximum inspiratory pressure (MIP) and forced vital capacity (FVC), suggesting more severe respiratory involvement. However, larger-scale studies are needed to confirm this relationship. The ongoing INSPIRE-IBM study is a multicenter, prospective observational study involving 150 IBM patients across 13 sites. We analyzed pulmonary function data collected at baseline, 12 months, and 18 months, including sitting and supine FVC, MIP, and maximum expiratory pressure (MEP) to examine correlations with NT5c1A seropositivity. Additionally, correlations with NIH PROMIS (Sleep) were collected. Data analysis is currently underway and will be presented at the upcoming conference. Based on earlier findings, we anticipate that NT5c1A-seropositive participants will again demonstrate lower pulmonary function test results, providing greater evidence of respiratory involvement in this subgroup.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105480"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204299","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":"190PSarcopenia severity in dystrophinopathy patients in Puerto Rico","authors":"A. Arrillaga Cruz,&nbsp;B. Cortes Nieves,&nbsp;J. García Rivera,&nbsp;G. López Medrano,&nbsp;E. Ramos","doi":"10.1016/j.nmd.2025.105543","DOIUrl":"10.1016/j.nmd.2025.105543","url":null,"abstract":"<div><div>Dystrophinopathies are genetic disorders characterized by muscle degeneration and weakness due to mutations in the dystrophin protein. Sarcopenia is defined as age/disease-related loss of muscle mass, strength, and function, and is a key component in the progression of dystrophinopathies. Quantification of muscle mass and its correlation with functional deterioration is essential for assessing disease progression and evaluating therapeutic interventions. This study aims to quantify body composition in patients with dystrophinopathies and understand the relationship between lean muscle mass, strength, and functional outcomes to assess sarcopenia severity. This cross-sectional study included 31 male patients with dystrophinopathies, aged 4-27. Body composition, including lean tissue mass, was assessed using a whole-body Dual-Energy X-ray Absorptiometry (DEXA) scan. Isometric strength of handgrip, elbow flexors, and knee extensors were measured using dynamometers. Functional assessments, including the North Star Ambulatory Assessment (NSAA), 10-meter walk test (10MWT), revised upper limb module (RULM), and the Brooke/Vignos scale were performed. These variables were correlated with lean tissue mass using regression analysis. Preliminary findings show that lean tissue mass decreases with age. Moderate positive correlation was found between lean tissue mass and isometric strength in elbow flexors and knee extensors. Strong positive correlation was found between lean tissue mass and functional tests, including the NSAA, 10MWT, Brooke, and Vignos scale. Final results will be available at the date of presentation. The positive correlations between lean tissue mass and strength, as well as functional outcomes, highlight the role of muscle mass in disease progression. These results suggest that the evaluation of lean tissue mass may serve as a biomarker for monitoring therapeutic interventions aimed at preserving muscle mass and function.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105543"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204501","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}