Journal of neuromuscular diseases最新文献

{"title":"IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa.","authors":"Corentin Meyer, Norma Beatriz Romero, Teresinha Evangelista, Brunot Cadot, Jocelyn Laporte, Anne Jeannin-Girardon, Pierre Collet, Ali Ayadi, Kirsley Chennen, Olivier Poch","doi":"10.3233/JND-230085","DOIUrl":"10.3233/JND-230085","url":null,"abstract":"<p><p>Medical acts, such as imaging, lead to the production of various medical text reports that describe the relevant findings. This induces multimodality in patient data by combining image data with free-text and consequently, multimodal data have become central to drive research and improve diagnoses. However, the exploitation of patient data is problematic as the ecosystem of analysis tools is fragmented according to the type of data (images, text, genetics), the task (processing, exploration) and domain of interest (clinical phenotype, histology). To address the challenges, we developed IMPatienT (Integrated digital Multimodal PATIENt daTa), a simple, flexible and open-source web application to digitize, process and explore multimodal patient data. IMPatienT has a modular architecture allowing to: (i) create a standard vocabulary for a domain, (ii) digitize and process free-text data, (iii) annotate images and perform image segmentation, (iv) generate a visualization dashboard and provide diagnosis decision support. To demonstrate the advantages of IMPatienT, we present a use case on a corpus of 40 simulated muscle biopsy reports of congenital myopathy patients. As IMPatienT provides users with the ability to design their own vocabulary, it can be adapted to any research domain and can be used as a patient registry for exploratory data analysis. A demo instance of the application is available at https://impatient.lbgi.fr/.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"855-870"},"PeriodicalIF":3.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11307071/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140865260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy.","authors":"Alayne P Meyer, Anne M Connolly, Kathryn Vannatta, Natasha Hacker, Andrea Hatfield, Abigail Decipeda, Patricia Parker, Ava Willoughby, Megan A Waldrop","doi":"10.3233/JND-230082","DOIUrl":"10.3233/JND-230082","url":null,"abstract":"<p><strong>Background: </strong>Spinal muscular atrophy (SMA) is a genetic neurodegenerative disorder with onset predominantly in infants and children. In recent years, newborn screening and three treatments, including gene replacement therapy (Onasemnogene abeparvovec-xioi), have become available in the United States, aiding in the diagnosis and treatment of children with SMA.</p><p><strong>Objective: </strong>To evaluate parents' experiences with newborn screening and gene replacement therapy and to explore best practices for positive newborn screen disclosure and counseling of families.</p><p><strong>Methods: </strong>We conducted semi-structured interviews (n = 32) and online surveys (n = 79) of parents whose children were diagnosed with SMA (on newborn screening or symptomatically) and treated with gene replacement therapy.</p><p><strong>Results: </strong>Gene replacement therapy was most parents' first treatment choice, although concerns regarding long term efficacy (65%) and safety (51%) were common. Information provided during the newborn screening disclosure was quite variable. Only 34% of parents reported the information provided was sufficient and expressed need for more information about treatment. Although many parents experienced denial of the diagnosis at initial disclosure, 94% were in favor of inclusion of SMA on newborn screening. Parents were almost universally anxious following diagnosis and over half remained anxious at the time of study participation with uncertainty of the future being a key concern. Many parents had difficulty processing information provided during their first clinic appointment due to its complexity and their emotional state at the time.</p><p><strong>Conclusions: </strong>Utilizing this data, we provide a recommendation for the information provided in newborn screening disclosure, propose adjustments to education and counseling during the first clinic visit, and bring awareness of parents' mental health difficulties.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"129-142"},"PeriodicalIF":3.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10789343/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139074306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review.","authors":"Nicoline Voet, Ronne Pater, Joana Garmendia, Andone Sistiaga, Garazi Labayru, Benjamin Gallais, Ingrid de Groot, Samar Muslemani, Cynthia Gagnon, Christopher Graham","doi":"10.3233/JND-240003","DOIUrl":"10.3233/JND-240003","url":null,"abstract":"<p><p> Patient-reported outcome measures (PROMs) are valuable in comprehensively understanding patients' health experiences and informing healthcare decisions in research and clinical care without clinicians' input. Until now, no central resource containing information on all PROMS in neuromuscular diseases (NMD) is available, hindering the comparison and choice of PROMs used to monitor NMDs and appropriately reflect the patient's voice. This scoping review aimed to present a comprehensive assessment of the existing literature on using PROMs in children and adults with NMD. A scoping methodology was followed using Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) and COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) guidelines to assess the literature on PROMs in NMDs. Eligibility criteria encompassed articles describing psychometric development or evaluation of generic or disease-specific PROM-based instruments for adults and children with specific NMDs. The data charting process involved extracting measurement properties of included PROMs, comprising validity, reliability, responsiveness, and interpretability information. The review identified 190 PROMs evaluated across 247 studies in individuals with NMDs. The majority of PROMs were disease specific. The physical functioning domain was most assessed. Validity was the most frequently investigated measurement property, with a limited number of PROMs sufficiently evaluated for a range of psychometric characteristics. There is a strong need for further research on the responsiveness and interpretability of PROMs and the development of PROMs on social functioning in NMD.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"567-577"},"PeriodicalIF":3.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11091642/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140189756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.","authors":"Kristina Kastreva, Teodora Chamova, Stanislava Blagoeva, Stoyan Bichev, Violeta Mihaylova, Stefanie Meyer, Rachel Thompson, Sylvia Cherninkova, Velina Guergueltcheva, Hanns Lochmuller, Ivailo Tournev","doi":"10.3233/JND-230235","DOIUrl":"10.3233/JND-230235","url":null,"abstract":"<p><strong>Background: </strong>Congenital myasthenic syndromes (CMS) are a group of rare but often treatable inherited disorders of neuromuscular transmission characterized by fatigable skeletal muscle weakness. In this paper we present the largest phenotypic analysis to date of a cohort of patients carrying the pathogenic variant c.1327delG in the CHRNE gene, leading to CHRNE-CMS.</p><p><strong>Objective: </strong>This study aims to identify the phenotypic variability in CMS associated with c.1327delG mutation in the CHRNE gene.</p><p><strong>Methods: </strong>Disease specific symptoms were assessed using specific standardized tests for autoimmune myasthenia (Quantitative Myasthenia Gravis score) as well as patient-reported scales for symptom severity. Evaluated clinical manifestations included ocular symptoms (ophthalmoparesis and ptosis), bulbar weakness, axial muscle weakness, proximal and distal muscle weakness, and respiratory function. Patients were allocated into three groups according to clinical impression of disease severity: mild, moderate, and severe.</p><p><strong>Results: </strong>We studied 91 Bulgarian Roma patients, carrying the same causative homozygous CHRNE c.1327delG mutation. Bulbar weakness was present in patients throughout all levels of severity of CHRNE-CMS in this study. However, difficulties in eating and swallowing are more prominent characteristics in the moderate and severe clinical phenotypes. Diplopia and ptosis resulting from fatigue of the extraocular muscles were permanent features regardless of disease severity or age. Levels of axial, proximal and distal muscle weakness were variable between disease groups. The statistical analysis showed significant differences between the patients in the three groups, emphasizing a possible variation in symptom manifestation in the evaluated patient population despite the disease originating from the same genetic mutation. Impairment of respiratory function was more prominent in severely affected patients, which might result from loss of compensatory muscle function in those individuals.</p><p><strong>Conclusion: </strong>Results from our study indicate significant phenotypic heterogeneity leading to mild, moderate, or severe clinical manifestation in CHRNE-CMS, despite the genotypic homogeneity.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"1011-1020"},"PeriodicalIF":3.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380250/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141600190","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.","authors":"Daniel Baumgartner, Zuzana Mušová, Jana Zídková, Petra Hedvičáková, Eva Vlčková, Lubica Joppeková, Tereza Kramářová, Lenka Fajkusová, Viktor Stránecký, Jan Geryk, Pavel Votýpka, Radim Mazanec","doi":"10.3233/JND-230236","DOIUrl":"10.3233/JND-230236","url":null,"abstract":"<p><strong>Background: </strong>Genetic factors are involved in the pathogenesis of familial and sporadic amyotrophic lateral sclerosis (ALS) and constitute a link to its association with frontotemporal dementia (FTD). Gene-targeted therapies for some forms of ALS (C9orf72, SOD1) have recently gained momentum. Genetic architecture in Czech ALS patients has not been comprehensively assessed so far.</p><p><strong>Objective: </strong>We aimed to deliver pilot data on the genetic landscape of ALS in our country.</p><p><strong>Methods: </strong>A cohort of patients with ALS (n = 88), recruited from two Czech Neuromuscular Centers, was assessed for hexanucleotide repeat expansion (HRE) in C9orf72 and also for genetic variations in other 36 ALS-linked genes via next-generation sequencing (NGS). Nine patients (10.1%) had a familial ALS. Further, we analyzed two subgroups of sporadic patients - with concomitant FTD (n = 7) and with young-onset of the disease (n = 22).</p><p><strong>Results: </strong>We detected the pathogenic HRE in C9orf72 in 12 patients (13.5%) and three other pathogenic variants in FUS, TARDBP and TBK1, each in one patient. Additional 7 novel and 9 rare known variants with uncertain causal significance have been detected in 15 patients. Three sporadic patients with FTD (42.9%) were harbouring a pathogenic variant (all HRE in C9orf72). Surprisingly, none of the young-onset sporadic patients harboured a pathogenic variant and we detected no pathogenic SOD1 variant in our cohort.</p><p><strong>Conclusion: </strong>Our findings resemble those from other European populations, with the highest prevalence of HRE in the C9orf72 gene. Further, our findings suggest a possibility of a missing genetic variability among young-onset patients.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"1035-1048"},"PeriodicalIF":3.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141759247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Findings from the Longitudinal CINRG Becker Natural History Study.","authors":"Paula R Clemens, Heather Gordish-Dressman, Gabriela Niizawa, Ksenija Gorni, Michela Guglieri, Anne M Connolly, Matthew Wicklund, Tulio Bertorini, Jean Mah, Mathula Thangarajh, Edward C Smith, Nancy L Kuntz, Craig M McDonald, Erik Henricson, S Upadhyayula, Barry Byrne, Georgios Manousakis, Amy Harper, Susan Iannaccone, Utkarsh J Dang","doi":"10.3233/JND-230178","DOIUrl":"10.3233/JND-230178","url":null,"abstract":"<p><strong>Background: </strong>Becker muscular dystrophy is an X-linked, genetic disorder causing progressive degeneration of skeletal and cardiac muscle, with a widely variable phenotype.</p><p><strong>Objective: </strong>A 3-year, longitudinal, prospective dataset contributed by patients with confirmed Becker muscular dystrophy was analyzed to characterize the natural history of this disorder. A better understanding of the natural history is crucial to rigorous therapeutic trials.</p><p><strong>Methods: </strong>A cohort of 83 patients with Becker muscular dystrophy (5-75 years at baseline) were followed for up to 3 years with annual assessments. Muscle and pulmonary function outcomes were analyzed herein. Age-stratified statistical analysis and modeling were conducted to analyze cross-sectional data, time-to-event data, and longitudinal data to characterize these clinical outcomes.</p><p><strong>Results: </strong>Deletion mutations of dystrophin exons 45-47 or 45-48 were most common. Subgroup analysis showed greater pairwise association between motor outcomes at baseline than association between these outcomes and age. Stronger correlations between outcomes for adults than for those under 18 years were also observed. Using cross-sectional binning analysis, a ceiling effect was seen for North Star Ambulatory Assessment but not for other functional outcomes. Longitudinal analysis showed a decline in percentage predicted forced vital capacity over the life span. There was relative stability or improved median function for motor functional outcomes through childhood and adolescence and decreasing function with age thereafter.</p><p><strong>Conclusions: </strong>There is variable progression of outcomes resulting in significant heterogeneity of the clinical phenotype of Becker muscular dystrophy. Disease progression is largely manifest in adulthood. There are implications for clinical trial design revealed by this longitudinal analysis of a Becker natural history dataset.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"201-212"},"PeriodicalIF":3.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10789327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138047134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report.","authors":"Niki Armstrong, Susan Apkon, Kiera N Berggren, Catherine Braun, Emma Ciafaloni, Anne Connolly, Annie Kennedy, Nancy Kuntz, Katherine Mathews, Michelle McGuire, Richard Parad, Mena Scavina, Rebecca J Scharf, Megan Waldrop","doi":"10.3233/JND-230180","DOIUrl":"10.3233/JND-230180","url":null,"abstract":"<p><strong>Objective: </strong>This report summarizes the key discussions from the \"Early Care (0-3 years) in Duchenne Muscular Dystrophy\" meeting, which aimed to address the challenges and opportunities in the diagnosis and care of Duchenne muscular dystrophy (DMD) and female carriers within the 0-3-year age group.</p><p><strong>Methods: </strong>The meeting brought together experts and healthcare providers who shared insights, discussed advancements in DMD care, and identified research needs. Presentations covered diagnostic challenges, approved therapies, clinical trials, identification of young female carriers, and the importance of clinical care and support for families.</p><p><strong>Results: </strong>The meeting highlighted the importance of timely diagnosis and the lack of evidence-based guidelines for the care of children with DMD aged 0-3 years. Diagnostic challenges were discussed, including delays in receiving a DMD diagnosis and disparities based on ethnicity. The potential benefits and process of newborn screening were addressed.Approved therapeutic interventions, such as corticosteroids and exon-skipping drugs, were explored, with studies indicating the potential benefits of early initiation of corticosteroid therapy and the safety of exon-skipping drugs in DMD. Clinical trials involving infants and young boys were discussed, focusing on drugs like ataluren, vamorolone, and gene therapies.The meeting emphasized the importance of clinical care and support for families, including comprehensive information provision, early intervention services, and individualized support. The identification and care of young female carriers were also addressed.</p><p><strong>Conclusion: </strong>The meeting provided a platform for experts and healthcare providers to discuss and identify key aspects of early care for children with DMD aged 0-3 years. The meeting emphasized the need for early diagnosis, evidence-based guidelines, and comprehensive care and support for affected children and their families. Further research, collaboration, and the development of consensus guidelines are needed to improve early diagnosis, treatment, and outcomes in this population.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"525-533"},"PeriodicalIF":3.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10977386/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139377835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DySMA - an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing.","authors":"Jana Zang, Stefanie Witt, Jessika Johannsen, Deike Weiss, Jonas Denecke, Charlotte Dumitrascu, Almut Nießen, Julia Hannah Quitmann, Christina Pflug, Till Flügel","doi":"10.3233/JND-230177","DOIUrl":"10.3233/JND-230177","url":null,"abstract":"<p><strong>Background: </strong>The manifestation of bulbar symptoms, especially swallowing, is important for evaluating disease-modifying therapies for spinal muscular atrophy (SMA). Due to the lack of instruments, the topic is still underrepresented in research.</p><p><strong>Objective: </strong>This study aimed to develop a tool to monitor swallowing development in children aged 0 to 24 months with SMA.</p><p><strong>Methods: </strong>The method was guided by the COSMIN guidelines and followed a multi-stage Delphi process. The first step was a rapid review of swallowing outcomes in children with SMA younger than 24 months. In the second step, online group interviews with experts (n = 7) on dysphagia in infants were conducted, followed by an anonymous online survey among experts in infants with SMA (n = 19). A predefined consensus threshold for nominal scaled voting was set at≥75 % and for 5-point Likert scale voting at 1.25 of the interquartile range. The third step was the pilot test of the instrument, performed with three groups (healthy controls n = 8; pre-symptomatic n = 6, symptomatic n = 6).</p><p><strong>Results: </strong>Based on the multi-level interprofessional consensus, the DySMA comprises two parts (history and examination), ten categories, with 36 items. Implementation and scoring are clearly articulated and easy to implement. The pilot test showed that swallowing development could be recorded in all groups.</p><p><strong>Conclusion: </strong>The DySMA is well suited for monitoring swallowing development in pre-symptomatic and symptomatic treated infants with SMA. It can be performed in a time-efficient and interprofessional manner. The resulting score is comparable to results from other instruments measuring other domains, e.g., motor function.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":"11 2","pages":"473-483"},"PeriodicalIF":3.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10977442/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140059657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum to: Sex Difference in Spinal Muscular Atrophy Patients - are Males More Vulnerable?","authors":"","doi":"10.3233/JND-249002","DOIUrl":"10.3233/JND-249002","url":null,"abstract":"","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"1161"},"PeriodicalIF":3.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HAP-PEE: A Danish National Study of Challenges Related to Urinating When Away from Home in Women with Neuromuscular Diseases, Impact on Activity and Participation and Prevalence of Lower Urinary Tract Symptoms.","authors":"Ulla Werlauff, Charlotte Handberg, Bente Kristensen, Sarah Glerup, Antoniett Vebel Pharao, Jeanette Strøm, Bente Thoft Jensen","doi":"10.3233/JND-230241","DOIUrl":"10.3233/JND-230241","url":null,"abstract":"<p><strong>Background: </strong>Little is known about the challenges faced by women with a neuromuscular disease (NMD) when having to go to the toilet in other places than home; a topic that is highly important for participation and bladder health.</p><p><strong>Objective: </strong>The aim was to investigate whether women with NMD have problems in going to the toilet when not at home, the problems' impact on their social activities, education, and working life, which strategies they use to manage the problems, and the prevalence of lower urinary tract symptoms (LUTS).</p><p><strong>Methods: </strong>A national survey containing questions on type of NMD, mobility, impacts on social activities, education, working life, and bladder health was developed by women with NMD and researchers. LUTS were assessed by the International Consultation on Incontinence Questionnaire Female Lower Urinary Tract Symptoms Modules (ICIQ-FLUTS). Female patients≥12 years (n = 1617) registered at the Danish National Rehabilitation Centre for Neuromuscular Diseases were invited.</p><p><strong>Results: </strong>692 women (43%) accepted the invitation; 21% were non-ambulant. 25% of respondents avoided going to the toilet when not at home. One third of respondents experienced that problems in going to the toilet impacted their social life. 43% of respondents refrained from drinking to avoid voiding when not at home, 61% had a low frequency of urinating, 17% had experienced urinary tract infections, and 35% had experienced urine incontinence. Problems were seldom discussed with professionals, only 5% of participants had been referred to neuro-urological evaluation.</p><p><strong>Conclusion: </strong>The results highlight the difficulties in urinating faced by women with NMD when not at home and how these difficulties impact functioning, participation, and bladder health. The study illustrates a lack of awareness of the problems in the neuro-urological clinic. It is necessary to address this in clinical practice to provide supportive treatment and solutions that will enable participation for women with NMD.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"829-838"},"PeriodicalIF":3.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11307087/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141183768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}