Journal of neuromuscular diseases最新文献

{"title":"Molecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis.","authors":"Peter A Sparber, Elena V Zinina, Olga Shchagina, Aleksander V Polyakov, Sergey I Kutsev","doi":"10.1177/22143602251356189","DOIUrl":"https://doi.org/10.1177/22143602251356189","url":null,"abstract":"<p><strong>Background: </strong>There is currently no reliable epidemiological data in the Russian Federation nor data on patient routing and evaluation of the efficacy and feasibility of diagnostic and therapeutic approaches to patients with suspected Duchenne/Becker muscular dystrophy (DMD/BMD).</p><p><strong>Objective: </strong>To record and monitor all patients with DMD/BMD in Russia.</p><p><strong>Methods: </strong>Observational multicenter prospective & retrospective Registry of patients with DMD/BMD.</p><p><strong>Results: </strong>Almost half of the 626 included patients live in the Central and Volga Federal Districts. The most common cause of the disease was large deletions of one or more exons (328 patients, 52.4%). Large duplications were identified in 92 patients (14.7%). Point mutations were identified in 206 patients, 32.9%. Among 448 patients with a known family history, 20% had a first-line relative diagnosed with DMD/BMD. The mean delay in diagnosis (the time from onset to clinically confirmed diagnosis) was 24.3 months.</p><p><strong>Conclusions: </strong>These data demonstrate the preliminary results of the Registry and indicate a considerable delay in diagnosis in Russia.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251356189"},"PeriodicalIF":3.2,"publicationDate":"2025-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675010","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":"Pathogenic mechanisms and clinical insights into <i>B3GALNT2</i>-related alpha-dystroglycanopathies.","authors":"Xiaona Fu, Hui Wang, Wenjia Chai, Xiaoyu Chen, Danyu Song, Wei Wang, Jingwei Zhong, Zhimei Liu, Xiao Tong, Hui Xiong, Xiaotun Ren, Jingang Gui","doi":"10.1177/22143602251360270","DOIUrl":"https://doi.org/10.1177/22143602251360270","url":null,"abstract":"<p><p>Background<i>B3GALNT2</i> mutations cause α-dystroglycanopathy (α-DGP), a rare condition characterized by muscular dystrophy, brain malformations, and developmental delay. However, its pathogenic mechanisms remain poorly understood. To date, limited cases have been reported, and the pathogenic mechanisms remain incompletely understood.MethodsClinical and genetic data from 3 newly diagnosed Chinese patients and 28 patients previously diagnosed with <i>B3GALNT2</i>-related α-DGP were analyzed. Using patient-derived fibroblasts, α-dystroglycan (α-DG) glycosylation and laminin-binding capacity were assessed by immunoblotting, laminin overlay and immunofluorescence. <i>B3GALNT2</i> mRNA and protein levels were quantified by real-time PCR and immunoblotting. Enzymatic activity was measured using purified recombinant <i>B3GALNT2</i> proteins. Differentially expressed genes were identified via an mRNA microarray.ResultsAll three patients carried compound heterozygous variants involving one truncating and one missense mutation. Two novel mutations (c.657_658insTT and c.1384T > C) were identified. Functional studies confirmed that the missense mutations (Y436C and C462R) impaired enzymatic activity to 40-50% of wild-type levels, while splice variants caused frameshifts and likely complete loss of protein. Despite partial residual activity, all patients showed severely reduced α-DG glycosylation and loss of laminin binding, consistent with a functional threshold effect. Transcriptomic analysis revealed upregulation of <i>CHST10</i> in two patients.ConclusionsThis study expands the mutational spectrum of <i>B3GALNT2</i>-related α-DGP and provides mechanistic insight into the pathogenicity of novel variants. Our findings support a functional threshold model for B3GALNT2 activity in α-DG glycosylation and suggest CHST10 as a potential transcriptional responder to glycosylation defects. These results deepen the understanding of <i>B3GALNT2</i>-related dystroglycanopathies and may inform future diagnostic and therapeutic strategies.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251360270"},"PeriodicalIF":3.2,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144642839","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":"<i>DCTN1</i>-associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy.","authors":"Byeonghyeon Lee, Seong Tae Cho, Ryul Kim, Ki Wha Chung, Tae-Jun Kwon, Un-Kyung Kim, Ye-Ri Kim, Byung-Ok Choi, Jin-Sung Park","doi":"10.1177/22143602251352989","DOIUrl":"https://doi.org/10.1177/22143602251352989","url":null,"abstract":"<p><p>Background<i>Dynactin 1</i> (<i>DCTN1</i>) mutations are associated with diverse neurological disorders, including distal hereditary motor neuropathy, Perry syndrome, and amyotrophic lateral sclerosis. This study focused on a family with symptoms resembling spinal and bulbar muscular atrophy, showing severe vocal cord paralysis, to understand <i>DCTN1</i>-related neurological disorders in Koreans.MethodClinical examinations revealed variable phenotypes, such as proximal limb weakness, chronic hypercapnia, and gynecomastia, alongside vocal cord paralysis. Whole-exome sequencing identified a missense mutation, c.1175G > A, in <i>DCTN1</i>. Three more Korean families with the same mutation were analyzed to explore a potential founder effect. Microsatellite analysis indicated a shared haplotype, suggesting a common genetic origin.ResultThis study identified a missense mutation, c.1175G > A, in <i>DCTN1</i> in the initial family with features resembling spinal and bulbar muscular atrophy. The mutation was also present in three other Korean families, indicating a potential founder effect. Microsatellite analysis confirmed a shared haplotype among these families. Meanwhile, the patients also manifested additional clinical features such as peripheral neuropathy and gynecomastia.ConclusionThis study highlights clinical heterogeneity in Korean patients with <i>DCTN1</i>-associated neurological disorders and identifies a potential founder mutation, c.1175G > A, expanding the clinical spectrum of <i>DCTN1</i> mutations with clinical features of spinal bulbar muscular atrophy. Understanding such genetic and clinical diversity is crucial for accurate diagnoses and management, with implications for future research and therapeutic strategies.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251352989"},"PeriodicalIF":3.2,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144642838","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":"REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France.","authors":"Lamiae Grimaldi, Rocio Garcia-Uzquiano, Marta Gomez-Garcia de la Banda, Amal Oulhissane-Omar, Celine Tard, Pascale Saugier-Veber, Vincent Laugel, Isabelle Desguerre, Pascal Cintas, Carole Vuillerot, Frederic Audic, Claude Cances, Tanya Stojkovic, Jon Andoni Urtizberea, Shahram Attarian, Juliette Ropars, Susana Quijano-Roy","doi":"10.1177/22143602251353446","DOIUrl":"https://doi.org/10.1177/22143602251353446","url":null,"abstract":"<p><p>BackgroundSpinal muscular atrophy (SMA) is a severe neurodegenerative disease affecting children. Three innovative disease-modifying therapies (DMTs)-nusinersen, risdiplam, and onasemnogene abeparvovec-are available for treatment.ObjectiveTo provide a descriptive overview of patients enrolled in the <i>Registre SMA France</i> until July 22, 2024.Methods<i>Registre SMA France</i> is a multicenter, national observational registry that includes patients with SMA-children and adults, treated or untreated. Data collection began retrospectively in 2016 and prospectively in 2020, with a 10-year follow-up plan. The coordinating center is the neuropediatric department of Garches Hospital (AP-HP), while methodological and, regulatory and operational management, are provided by the Clinical Research Unit of AP-HP Paris-Saclay. Financial support is provided through unrestricted grants from Biogen, Novartis, and Roche. Data on patient characteristics, medical and surgical follow-up, treatments, adverse events, and quality of life are recorded via structured forms, with additional modules developed as required (e.g., hematological monitoring post-gene therapy in 2021). Data quality is ensured through routine checks and periodic monitoring.ResultsBy July 22, 2024, 1299 patients from 59 centers were enrolled (299 SMA1, 502 SMA2, 469 SMA3, 19 SMA4, 10 presymptomatic). Of these, 76.2% received DMT (nusinersen: 46.1%, risdiplam: 23.2%, onasemnogene abeparvovec: 9.2%), with 21.5% undergoing sequential or combination therapy. Major complications included ventilatory support (SMA1: 69.9%, SMA2: 64.5%, SMA3: 18.1%), enteral feeding (SMA1: 56.2%SMA1), and spine surgery (SMA2: 24.5%). Survival was significantly higher in treated SMA1 and SMA2 cases.ConclusionThis registry serves as a key resource for understanding the clinical course and treatment outcomes of SMA in the real world, supporting future research and informing clinical and policy decisions in the era of DMTs.Trial registrationNCT04177134.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251353446"},"PeriodicalIF":3.2,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584103","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":"Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand?","authors":"Elena Faedo, Iman Tahiri, Christophe Alimi, Hussein Shoaito, Gianmarco Severa, Sophie Olivier, Stephane Degove, Isabelle Richard, Edoardo Malfatti","doi":"10.1177/22143602251355316","DOIUrl":"https://doi.org/10.1177/22143602251355316","url":null,"abstract":"<p><strong>Introduction: </strong>Limb-Girdle Muscular Dystrophies (LGMDs) are heterogeneous inherited disorders with no cure, including 29 recessive (LGMDR) and 5 dominant forms (LGMDD), characterized by proximal muscle weakness. Finding a cure for LGMD is difficult due to the their slow evolution for which comprehensive data collection through registries, network, and natural history studies is pivotal.</p><p><strong>Methods: </strong>We conducted a review following PRISMA guidelines searching in PubMed, Scopus, and Web of Science for articles published between 2000-2025, focusing on LGMD registries, networks, and natural history studies. We included observational studies, cohort designs, and registry-based studies.</p><p><strong>Results: </strong>Among 443 records, 38 studies were included, 10 registries, 4 networks, and 17 natural history studies respectively. Registries varied in scope, with many focused on specific LGMD subtypes. Natural history studies were predominantly subtype-specific, poorly linked to registries. Only 12 studies were connected to registries or networks, and most performed in Europe and North America.</p><p><strong>Discussion: </strong>Registries, networks, and natural history studies showed considerable design variability, leading to challenges with data interoperability and underscoring the need for standardization. Despite regional coverage, low-income countries are underrepresented in the data. The limited linkage between natural history studies and registries presents a missed opportunity to leverage well-characterized cohorts. Many registries and networks remain unpublished, limiting available data for global research.</p><p><strong>Conclusion: </strong>Registries are crucial, benefiting patients, clinicians, researchers, and industries. The scarcity of natural history studies hinders the development of centralized datasets. Standardizing registry design, improving data interoperability, and enhancing patient diversity are critical to boost LGMD research.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251355316"},"PeriodicalIF":3.2,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584104","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":"Sarcoglycanopathies: From clinical diagnosis to new promising therapies.","authors":"Holly Borland, Jordi Diaz-Manera","doi":"10.1177/22143602251324855","DOIUrl":"10.1177/22143602251324855","url":null,"abstract":"<p><p>The sarcoglycanopathies are a severe form of limb girdle muscular dystrophy caused by mutations in the sarcoglycan genes SGCA, SGCB, SGCG, and SGCD, leading to reduced or absent expression of the alpha-, beta-, gamma-, and delta-sarcoglycan proteins respectively. Most patients develop a severe disease starting in the first decade of life that progresses quickly and eventually leads to a loss of ambulation before the age of 20. However, there is a marked heterogeneity in the prognosis, and several patients develop a milder phenotype. The factors correlating with disease progression are not completely known, but recent data suggest that remaining protein expression can be a key factor. The diagnosis is confirmed by genetic studies, which are sometimes not confirmative in the case of identifying variants of unknown significance or just one variant. New tools to understand the potential pathogenesis of missense variants have been developed; these are helping in the diagnosis of these diseases. Additionally, recent data on muscle MRI have revealed a characteristic pattern of involvement that can also support the diagnosis of the disease. In recent years, data coming from international collaborative studies have allowed an understanding of disease progression; however, this is only through retrospective data. There are no prospective studies collecting longitudinal data on skeletal and respiratory muscle function or cardiac structure and function progression over time which is hampering the development of new drugs in the field. Clinical trials with gene therapy are underway or are being designed in some of the subtypes of sarcoglycanopathies to advance therapeutic management.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"463-472"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700577","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":"Kennedy's disease from India: An Indian Cohort with multisystemic manifestations.","authors":"Saranya B Gomathy, William L Macken, Nimita Rani, Ayush Agarwal, Rakesh Singh, Megha Dhamne, Sruthi S Nair, Alisha Reyaz, Tanveer Ahmed, Ashwin Dalal, Mayandi Muthulakshmi, Lindsay Wilson, Asish Vijayaraghavan, Rohit Bhatia, Robert D S Pitceathly, Kumarasamy Thangaraj, Mary M Reilly, Padma Mv Srivastava, Michael G Hanna, Venugopalan Y Vishnu","doi":"10.1177/22143602251325795","DOIUrl":"10.1177/22143602251325795","url":null,"abstract":"<p><p>BackgroundKennedy's disease (KD) is a rare, insidiously progressive lower motor neuron syndrome characterised by amyotrophy involving the appendicular or bulbar musculature of adult males in their fourth to fifth decade. There are no large series from the Indian subcontinent describing the clinical-genetic and laboratory spectrum of KD.AimTo describe the clinical, electrophysiologic, metabolic and genetic profile of patients with KD.MethodsWe conducted a retrospective review of ten genetically confirmed KD patients.ResultsThe mean age of the cohort was 47 years, with a mean age of onset of illness at 41.3 ± 9.9 years. The median duration of symptoms before presentation was 5 (3-12) years. The most common referral diagnosis was ALS. The majority presented with symmetric proximal limb weakness with bulbar symptoms and were found to have gynecomastia, lower motor neuron (LMN) facial weakness, and facial and lingual fasciculations. Electrophysiology revealed sensory neuropathy in five patients and chronic neurogenic changes consistent with anterior horn cell disease in all. Metabolic profile showed impaired glycemia, hyperlipidemia and evidence of non-alcoholic fatty liver disease in the majority. All had elevated serum creatine kinase. Genetic testing revealed a median of 46 CAG repeats. The phenotypes of our patients aligned with global data that is predominantly derived from participants of European ancestry.ConclusionWe describe a series of patients with KD from India with significant multisystemic involvement.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"513-522"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144024476","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":"Paraneoplastic anti-SRP antibody positive immune-mediated necrotizing myopathy in a young female associated with lymphoma.","authors":"Johanna Heugenhauser, Franziska Di Pauli, Günther Stockhammer, Andreas Chott, Clemens Feistritzer, Daniel Egle, Benjamin Henninger, Julia Wanschitz","doi":"10.1177/22143602251327002","DOIUrl":"10.1177/22143602251327002","url":null,"abstract":"<p><p>We report an exceptional case of immune-mediated necrotizing myopathy (IMNM) associated with anaplastic large cell lymphoma (ALCL). A 26-year-old female patient presented with subacute bilateral proximal muscle weakness and myalgia, highly elevated creatin kinase (CK), and seropositivity for anti-SRP antibodies. Tumor screening by FDG-PET/CT detected an enlarged axillary lymph node with high FDG uptake. Histology of the excised lymph node revealed ALCL, positive for ALK and CD30. Therapy with brentuximab, cyclophosphamide and doxorubicin resulted in complete remission of the lymphoma, additional treatment with oral steroids and repeated cycles of intravenous immunoglobulins led to improvement of muscle weakness and normalization of CK. 18 months after diagnosis the patient remains tumor free with mild to moderate residual axial weakness. A literature review of paraneoplastic anti-SRP antibody positive IMNM identified eleven cases of whom five had a tumor diagnosis within a ±3 years window. The majority of patients had different solid tumors except one with a hematological malignancy. Despite the rare association of anti-SRP antibody positive IMNM and malignancy, early extensive tumor screening was crucial for the management of our patient.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"567-574"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998005","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":"Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease.","authors":"Kenneth I Berger, Cristina Ivanescu, Jérôme Msihid, Magali Periquet, Alaa Hamed, Kristina An Haack, Tianyue Zhou, Nadine van der Beek, Matthias Boentert, Ruth Pulikottil-Jacob, Laurence Pollissard","doi":"10.1177/22143602251332829","DOIUrl":"10.1177/22143602251332829","url":null,"abstract":"<p><p>BackgroundRespiratory impairment in neuromuscular disorders (NMDs) is generally assessed using forced vital capacity (FVC). Any improvement in FVC trajectory will delay ventilatory support; however, the change required for patients to perceive a noticeable clinical benefit, the clinically meaningful threshold (CMT), has not been defined in NMDs.ObjectiveTo derive the within-person and between-group CMTs for FVC (% predicted) in patients with late-onset Pompe disease (LOPD).MethodsThis analysis leverages data from the Phase 3 COMET trial (NCT02782741, registered 25 May 2016), which assessed the efficacy of avalglucosidase alfa (AVA) versus alglucosidase alfa (ALG) on upright FVC (% predicted) in LOPD. Anchor- and distribution-based methods were used to estimate the within-person and between-group CMTs for FVC at Weeks 49 and 97.ResultsCOMET enrolled 99 participants aged ≥18 years (52% male; mean age 48.0 years). The within-person CMT for absolute change in FVC expressed as % predicted was estimated as 3.0% [95% confidence interval (CI) 2.3, 3.8]. The proportion of patients with a meaningful increase in FVC was higher in the AVA versus ALG group across the CI of the estimated CMT (odds ratios: 2.3-2.6; nominal p-values: 0.026-0.058). The between-group CMT, needed to evaluate differences between treatment groups, was estimated as 2.1% predicted [95% CI 1.1, 3.1].ConclusionsWe identified a narrow range of within-person and between-group CMTs for upright FVC (% predicted) in LOPD. <i>Post hoc</i> application of these thresholds to COMET showed that a greater proportion of patients in the AVA group had clinically meaningful improvement in FVC versus ALG. These findings may aid in interpretation of data from studies in other NMDs.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"523-534"},"PeriodicalIF":3.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111065","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 model to predict the 6-Minute Walk Distance in Pompe disease.","authors":"Audrey El Kaïm, Frédéric Fer, Valérie Decostre, Pascal Laforêt, Jean-Yves Hogrel","doi":"10.1177/22143602251336661","DOIUrl":"10.1177/22143602251336661","url":null,"abstract":"<p><strong>Background: </strong>Pompe disease is a rare neuromuscular disorder caused by acid alpha-glucosidase deficiency, leading to glycogen accumulation and progressive striated muscle weakness. The 6-minute walk test (6MWT) is commonly used to assess functional capacity in neuromuscular diseases but can be challenging for severely affected ambulant patients.</p><p><strong>Objective: </strong>This study aimed to develop and validate predictive models for 6MWT performance using simpler, less demanding tests.</p><p><strong>Methods: </strong>This retrospective monocentric study included 74 patients with Pompe disease (712 visits) and a mean follow-up of 6.6 ± 3.8 years. Functional assessments included the 6MWT, 10-meter walk test (10mWT) which was specifically used to determine gait speed, timed tests, strength and respiratory measures, and the Motor Function Measure (MFM-32). Linear regression models were developed to predict 6MWT speed, with validation using an 80%-20% training-testing split.</p><p><strong>Results: </strong>The cohort had an equal male-to-female ratio, with a mean age of 54.4 ± 13.5 years. The 10mWT speed showed a strong correlation with 6MWT speed (R = 0.91, p < 0.0001), confirming its potential as a surrogate measure. The most practical predictive model included 10mWT speed, age, sex, height, and weight, achieving an adjusted R² of 0.86. This model balances simplicity and accuracy, relying on easily measurable parameters suitable for routine clinical use. More complex models, including variables such as the MFM-32 or supine-to-sit time, offered only marginal improvements in accuracy.</p><p><strong>Conclusion: </strong>The 10mWT offers a robust and less exhausting alternative to the 6MWT for assessing walking capacity in Pompe disease, particularly for ambulant patients with severe mobility limitations. Its strong correlation with the 6MWT and ease of implementation support its integration into clinical practice and trials.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"487-496"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144030116","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}