Journal of neuromuscular diseases最新文献

{"title":"Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset.","authors":"Katlyn Elizabeth McGrattan, Robert J Graham, Alicia Hofelich Mohr, Anna Miles, Jacqui Allen, Juliet Ochura, Kayla Hernandez, Katie Walsh, Vamshi Rao, Melanie Stevens, Lindsay Alfano, Mackenzi Coker, Carmen Leon-Astudillo, Leann Schow Smith, John Brandsema, Hiba Farah, Julia Welc, Deborah Salle Levy, Miranda Clements, Whitney J Tang, Tina Duong, Carolina Tesi Rocha, Graham Schenck, Heather McGhee, Keeley Nichols, Ashley Brown, Allison Brown, Diana Castro, Basil T Darras","doi":"10.1177/22143602241308762","DOIUrl":"https://doi.org/10.1177/22143602241308762","url":null,"abstract":"<p><strong>Background: </strong>Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disorder that in its most severe form, causes profound swallowing deficits. There remains a paucity of research systematically elucidating the biomechanical and functional correlates. This void limits the ability to evaluate the effects of disease-modifying treatments on swallowing.</p><p><strong>Objective: </strong>Elucidate characteristics of swallowing biomechanics and function among untreated patients with SMA.</p><p><strong>Methods: </strong>Infants with SMA who had not received disease modifying therapy when they underwent a videofluoroscopic swallow study (VFSS) were retrospectively identified from 13 international children's hospitals. Infants were eligible if they exhibited symptoms by six months old, or in cases where they detected prior to symptom onset, if they had two copies of SMN2. Eligible infants underwent medical record review to gather oral intake status and need for suctioning for secretion management. Digital files of VFSS' were extracted and analyzed using BabyVFSSImP™. Non-parametric t-tests were used to compare swallowing biomechanics based on viscosity and the presence of dysphagia symptoms.</p><p><strong>Results: </strong>62 infants were included in this investigation with average age at initial VFSS 4.4 ± 3.11 months. A high proportion of infants exhibited profound deficits in swallowing biomechanics that impeded extraction of the bolus from the nipple, clearance of the bolus from the pharynx, and prevention of the bolus from entering the airway. Deficits were significantly more prevalent in infants referred for VFSS due to dysphagia symptoms than asymptomatic infants referred as part of high-risk referral (t ≤ 2.5, p ≤ 0.03). A high proportion of infants relied on suctioning for secretion management (34%; N = 21) and alternative nutrition (39%; N = 24), with those relying on these supports exhibiting significantly worse swallowing biomechanics than those who did not (t ≤ 2.8, p ≤ 0.01).</p><p><strong>Conclusions: </strong>Profound deficits in swallowing biomechanics and function are common in infants with SMA. Though clinical symptoms may aid in identifying infants with the most profound swallowing deficits, their absence in cases of more mild deficits inhibits the ability to use these clinical markers as a valid metric of swallowing integrity.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":"12 1","pages":"22143602241308762"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458321","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":"Report on the 6th Ottawa International Conference on Neuromuscular Disease & Biology - September 7-9, 2023, Ottawa, Canada.","authors":"Jodi Warman-Chardon, Bernard J Jasmin, Rashmi Kothary, Robin J Parks","doi":"10.1177/22143602241304993","DOIUrl":"https://doi.org/10.1177/22143602241304993","url":null,"abstract":"<p><p>The 6th Ottawa International Conference in Neuromuscular Disease and Biology was held on September 7-9, 2023 in Ottawa, Canada. The goal of the conference was to assemble international experts in fundamental science, translational medicine and clinical neuromuscular disease research. Speakers provided attendees with updates on a wide range of topics related to neuromuscular disease and biology, including methods to identify novel diseases, recent developments in muscle, motor neuron and stem cell biology, expanded disease pathogenesis of known diseases, and exciting advances in therapy development. A summary of the major topics and results presented by these speakers is provided.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":"12 1","pages":"22143602241304993"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457832","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":"Optimizing DMD management in Asia: Current challenges and future directions.","authors":"Wen-Chin Weng, Sophelia H S Chan, Roy Gomez, Furene Wang, Hsu-Wen Chou, Jocelyn Lim, Sarah Tsai, Ting Rong Hsu, Yuh-Jyh Jong","doi":"10.1177/22143602241297846","DOIUrl":"https://doi.org/10.1177/22143602241297846","url":null,"abstract":"<p><strong>Background: </strong>Since 1970, advances in Duchenne muscular dystrophy (DMD) management have significantly extended the patients' life expectancy. However, DMD remains universally fatal.</p><p><strong>Objective: </strong>To understand the current DMD management standards and practices in Asia and to evaluate inconsistencies, unmet needs, and future directions for DMD patient management in the region.</p><p><strong>Methods: </strong>Clinical experts from Hong Kong, Singapore, and Taiwan convened in September 2023 to discuss DMD diagnosis, assessment, treatment, and management best practices. A pre-meeting survey was also administered to explore professional perspectives and practices and refine the discussion focus.</p><p><strong>Results: </strong>Genetic profiling has become the pivotal diagnostic tool and has been universally adopted by experts. Steroid therapy is recognized as the cornerstone of DMD care. However, there are various opinions regarding the timing of its initiation and whether it should be continued after the loss of ambulation. Gene therapy has the potential to significantly improve outcomes in patients with DMD. However, its adoption is hampered by high costs, the potential for serious adverse events, and difficulties with patient selection. Governments and manufacturers must work together to improve its affordability. Establishing a centralized DMD registry garnered strong support from the experts as it promised to provide insights into unique DMD subtypes, standardize treatment protocols, and facilitate the conduct of clinical trials. Furthermore, the introduction of gene therapy has highlighted the need for generating long-term safety and effectiveness data in patients with DMD. Lastly, a centralized patient registry can be used to inform policy decisions.</p><p><strong>Conclusions: </strong>DMD care in Asia is characterized by substantial heterogeneity, with financial and reimbursement issues playing a major role in management decisions. A centralized patient registry has the potential to address these concerns by providing a valuable source of information.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":"12 1","pages":"22143602241297846"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457888","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":"A Parent Project Muscular Dystrophy-sponsored International Workshop Report on Endocrine and Bone Issues in Patients with Duchenne Muscular Dystrophy: An Ever-changing Landscape.","authors":"Leanne M Ward, David R Weber, Sze Choong Wong, Susan Apkon, Paula R Clemens, Linda H Cripe, Hugh J McMillan, Eugenio Mercuri, Nat Nasomyont, Kim Phung, Nora E Renthal, Meilan M Rutter, Cuixia Tian, Claire L Wood, Philip S Zeitler, Filippo Buccella, Kathi Kinnett, Pat Furlong","doi":"10.1177/22143602241303370","DOIUrl":"https://doi.org/10.1177/22143602241303370","url":null,"abstract":"<p><p>In April 2023, over 30 experts and advocates from four countries met in Rome, Italy to discuss unmet needs in endocrine and bone health care for individuals with Duchenne muscular dystrophy (DMD). Despite recent advances in muscle-targeted therapy, long-term glucocorticoids (GC) remain the backbone of treatment for the foreseeable future. This affirms the need to intensify efforts that will mitigate serious complications of GC therapy, including unexpected mortality due to fat embolism syndrome following bone injury and also unrecognized adrenal suppression, early loss of ambulation linked to excess weight and/or fragility fracture, adverse cardiometabolic effects of GC, the psychosocial impact of profound growth and pubertal delay/hypogonadism, and the burden to families arising from monitoring and treating endocrine and skeletal complications of GC therapy. Delegates discussed: 1. The impact of GC therapy on the heart, 2. Predictors of fragility fractures and experience with intravenous and oral bisphosphonates plus teriparatide, 3. The effect of hormonal therapy on muscle-bone health, 4. Adrenal suppression, 5. Weight management, 6. Puberty, sexuality, fertility and gender identity, 7. The impact of early GC initiation, 8. Emerging knowledge about vamorolone (a novel dissociative steroid) and its effects on muscle, bone and endocrine health, and 9. Experiences implementing an endocrine-bone health management strategy nation-wide (in the UK). At the conclusion of the meeting, it was agreed that an endocrine-bone working group should be struck to continue the narrative, following which the <i>International OPTIMIZE DMD Consortium</i> was ignited to move the dial in these important areas.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":"12 1","pages":"22143602241303370"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458319","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":"Exploring the therapeutic potential of fibroadipogenic progenitors in muscle disease.","authors":"Marshall W Hogarth, Medha P Kurukunda, Karim Ismat, Prech Uapinyoying, Jyoti K Jaiswal","doi":"10.1177/22143602241298545","DOIUrl":"10.1177/22143602241298545","url":null,"abstract":"<p><p>Skeletal muscle relies on its inherent self-repair ability to withstand continuous mechanical damage. Myofiber-intrinsic processes facilitate the repair of damage to sarcolemma and sarcomeres, but it is the coordinated interaction between muscle-resident satellite and stromal cells that are crucial in the regeneration of muscles to replace the lost muscle fibers. Fibroadipogenic progenitors (FAPs), are muscle-resident mesenchymal cells that are notable for their role in creating the dynamic stromal niche required to support long-term muscle homeostasis and regeneration. While FAP-mediated extracellular matrix formation and the establishment of a homeostatic muscle niche are essential for maintaining muscle health, excessive accumulation of FAPs and their aberrant differentiation leads to the fibrofatty degeneration that is a hallmark of myopathies and muscular dystrophies. Recent advancements, including single-cell RNA sequencing and <i>in vivo</i> analysis of FAPs, are providing deeper insights into the functions and specialization of FAPs, shedding light on their roles in both health and disease. This review will explore the above insights, discussing how FAP dysregulation contributes to muscle diseases. It will offer a concise overview of potential therapeutic interventions targeting FAPs to restore disrupted interactions among FAPs and muscle-resident cells, ultimately addressing degenerative muscle loss in neuromuscular diseases.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":"12 1","pages":"22143602241298545"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458363","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":"Inflammatory myopathy with abundant macrophage [IMAM]: Systemic analysis and pathological approach to distinguish it from dermatomyositis.","authors":"Ahmed Bamaga, Maher Kurdi, Alaa Alkhotani, Huda Alghefari, Raed Gasemaltayeb, Faisal Mrair, Zahir T Fadel, Riffat Mehboob, Awab Tayyib, Ahmad R Abuzinadah","doi":"10.1177/22143602251315376","DOIUrl":"https://doi.org/10.1177/22143602251315376","url":null,"abstract":"<p><strong>Background: </strong>Inflammatory myopathy with abundant macrophage [IMAM] is marked by macrophage infiltration and muscle fibers damage, resembling dermatomyositis [DM] but with unique pathology. Its mechanism remains unclear. Our study focused on exploring the clinicopathological characteristics, underlying pathogenic mechanisms, and the challenges in diagnosing and managing IMAM.</p><p><strong>Methods: </strong>A systematic analysis of medical literature databases (Pub-med, Cochrane, Scopus, Google Scholar) was performed using the term \"IMAM,\" excluding studies on other inflammatory myopathies [IMs]. Selected studies were independently assessed with the Newcastle-Ottawa Scale, and quantitative data underwent inter-statistical analysis, descriptive and odds ratio, to identify relevant findings.</p><p><strong>Results: </strong>Eight studies, including 49 IMAM cases from 2003 to 2024, were analyzed. Five were case reports, and three were cross-sectional studies. IMAM showed no age or sex predilection. Common symptoms included proximal muscle weakness, pain, and fatigue, with atypical DM-like skin features in 65% of cases. Other association included hemophagocytosis, cutaneous panniculitis, and interstitial lung infiltration. Histologically, all cases showed myonecrosis infiltrated with CD68+ macrophages. Scattered CD3+ and CD4+ T-cells expressing IL-10 with no or rare CD8+ T-cells were identified. MAC deposition was limited to necrotic fibers, and perifascicular atrophy was absent in all cases. Anti-PL-7 and anti-U1 RNP antibodies were detected in 4% of cases. Elevated TNFα and IFN-γ levels, with low STAT1 and STAT6, were observed. Genetic analysis revealed <i>MEFV</i> polymorphisms in 7 cases and a <i>TNFRSF1A</i> mutation [C43R] in single case. Treatment involved steroids, with or without immunotherapy or chemotherapy, leading to remission and recovery in 43.7% of cases.</p><p><strong>Conclusion: </strong>IMAM is a distinct type of IMs that requires muscle biopsy for diagnosis as myositis antibody and cytokine tests are usually insensitive.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":"12 1","pages":"22143602251315376"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458390","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":"Virtual horizons: Enhancing rehabilitation of neuromuscular diseases through virtual reality and gamification.","authors":"Andrea Calderone, Desirèe Latella, Rosaria De Luca, Antonio Gangemi, Federica Impellizzeri, Paolo de Pasquale, Francesco Corallo, Alfredo Manuli, Angelo Quartarone, Simona Portaro, Rocco Salvatore Calabrò","doi":"10.1177/22143602241311194","DOIUrl":"10.1177/22143602241311194","url":null,"abstract":"<p><strong>Background: </strong>Neuromuscular diseases (NMDs) encompass a diverse range of disorders that impair muscle function, often leading to progressive weakness and loss of independence.</p><p><strong>Objective: </strong>This systematic review aims to synthesize research on how virtual reality (VR) and gamified rehabilitation approaches enhance patient engagement and outcomes, ultimately reshaping rehabilitation practices for individuals with NMDs.</p><p><strong>Methods: </strong>Studies were identified from an online search of PubMed, Web of Science, and Embase databases with a search time range from 2014 to 2024. This review has been registered on Open OSF (n) RCNHE.</p><p><strong>Results: </strong>Robotics, VR, and biofeedback, in turn, enriched by gamification, represent the improvement of motor function, motivation, and psychosocial well-being within rehabilitation concerning NMDs. Using emerging technologies seems promising to improve engagement, delay functional decline, and enhance quality of life.</p><p><strong>Conclusions: </strong>This systematic review identified that VR and gamification provide the potential to enhance rehabilitation outcomes in patients suffering from NMDs. The future will doubtless have more subjects included and optimization of interventions to best personalize treatments, hence best practice recommendations can be made towards wider clinical implementations.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":"12 1","pages":"22143602241311194"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457912","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":"Hyperconnectivity in resting-state fMRI as a marker of disease severity in Myotonic Dystrophy Type 1.","authors":"Joana Garmendia, Garazi Labayru, Antonio Jiménez-Marín, Jorge Villanúa, Jesús Cortés, Adolfo López de Munain, Andone Sistiaga","doi":"10.1177/22143602241307197","DOIUrl":"https://doi.org/10.1177/22143602241307197","url":null,"abstract":"<p><strong>Introduction: </strong>Myotonic dystrophy type 1 (DM1) patients show both structural and functional brain alterations, including abnormal resting-state (RS) functional connectivity. Although some studies have investigated RS functional connectivity in DM1, methodological differences make it challenging to draw consistent conclusions.</p><p><strong>Objectives: </strong>This study aims to analyze 1) RS functional connectivity in DM1 patients compared to healthy controls (HC), 2) graph theory metrics, 3) longitudinal connectivity variations, and 4) the relationship between connectivity and clinical, cognitive, and structural brain data.</p><p><strong>Methodology: </strong>Twenty-one DM1 patients and 21 matched HCs underwent 3 T MRI scans, including RS fMRI. Of these, 15 DM1 patients and 13 HCs participated in the follow-up after 3 years. Additionally, DM1 patients underwent baseline clinical, molecular and cognitive assessments. Functional connectivity analysis (ROI-to-ROI) and graph theory measures were employed. Longitudinal changes in connectivity were examined, and total hyperconnectivity and hypoconnectivity values were calculated to explore correlations with clinical, brain, and cognitive correlates.</p><p><strong>Results: </strong>DM1 patients showed widespread hyperconnectivity compared to HCs. Although no statistically significant differences were found in graph theory measures, patients tended to show decreased efficiency, strength, and clustering (with moderate effect sizes). Patients remained hyperconnected over time, with a progression similar to HCs. Hyperconnectivity was associated with more severe disease, greater muscular impairment, and molecular defects, as well as lower cognitive performance. Conversely, hypoconnectivity was associated with less severe disease.</p><p><strong>Discussion: </strong>DM1 patients are characterized by brain hyperconnectivity and a less efficient brain network organization. Hyperconnectivity is discussed as a compensatory mechanism and is suggested as a disease severity marker.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":"12 1","pages":"22143602241307197"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458385","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":"Corrigendum to \"Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis\".","authors":"","doi":"10.1177/22143602251320076","DOIUrl":"https://doi.org/10.1177/22143602251320076","url":null,"abstract":"","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":"12 1","pages":"22143602251320076"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143515868","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":"Comprehensive multidisciplinary care for adult Duchenne muscular dystrophy in South Korea.","authors":"Won Ah Choi, Hee Jae Park, Seong-Woong Kang, Sung-Rae Cho, Han Eol Cho","doi":"10.1177/22143602241304996","DOIUrl":"https://doi.org/10.1177/22143602241304996","url":null,"abstract":"<p><strong>Background: </strong>With advancements in cardiorespiratory care, the lifespan of patients with Duchenne Muscular Dystrophy (DMD) has significantly increased, shifting the focus from merely extending life to enhancing quality of life and managing complications effectively. However, there is a lack of interest in the management of adult DMD, highlighting a gap in holistic care approaches for this aging population.</p><p><strong>Objective: </strong>This study aims to assess the current state of care for adult DMD patients in South Korea, focusing on multidisciplinary management and identifying key areas for improvement.</p><p><strong>Methods: </strong>We retrospectively reviewed the medical records of 168 adult DMD patients who visited the Pulmonary Rehabilitation Center at [blinded for review] from 2022 to 2023. Demographic data, ventilatory support status, cardiac function, gastrointestinal, renal, and skeletal health were analyzed.</p><p><strong>Results: </strong>Of the patients, 93.8% required non-invasive ventilatory support, while 6.2% used invasive ventilation. Cardiac medications were prescribed to 82.1% of patients, with beta-blockers being the most common. Renal dysfunction was found in 10.1% of patients, with one patient requiring dialysis. A significant portion (54.8%) were on anti-constipation medications due to gastrointestinal issues, and 41.7% of patients had undergone scoliosis correction surgery. Bone mineral density was significantly reduced in most patients, with an average Z-score of -3.3.</p><p><strong>Conclusions: </strong>This study emphasizes the need for improved care protocols that enhance lifespan and quality of life and manage complications for patients with DMD. This study advocates a shift in healthcare strategies toward a more integrated and holistic care model for adult patients with DMD.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":"12 1","pages":"22143602241304996"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458324","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}