DOI: https://doi.org/https://doi.org/10.57187/5132
Duchenne muscular dystrophy (DMD) is a rare progressive neuromuscular disorder that profoundly impacts the physical, emotional, and social dimensions of patients and their families [1]. DMD is caused by mutations in the dystrophin gene, leading to muscle degeneration and associated comorbidities such as cardiac and respiratory dysfunction [2]. The clinical trajectory of DMD is characterised by many challenges, including a decline in functional abilities, which complicates management and requires a comprehensive, multidisciplinary approach to care [3, 4]. As treatment options continue to evolve, emerging evidence emphasises the critical importance of personalised care strategies that address both the physical aspects of the disease as well as the psychosocial challenges faced by patients and their families [5, 6]. For example, caregivers of individuals with DMD experience a considerable burden that adversely impacts their health-related quality of life, diminishes their psychological well-being, and increases financial strain on the family [6]. There remains a critical need for structured dialogue and effective cross-sector collaboration among clinicians, therapists, families, researchers, patient groups, and industry. The Duchenne Switzerland Conference 2025 has been pivotal in creating a platform for all stakeholders to share critical insights, identify gaps in care pathways, and bolster collaboration among professionals and caregivers involved in DMD care. Discussions from the conference are vital for enhancing care coordination and developing innovative treatment strategies that can mitigate the disease’s impact. This paper presents the main insights from the conference, which was held at the Swiss Paraplegic Centre in Nottwil on 26 September 2025 and brought together over 120 participants from Austria, China, Germany, and Switzerland.
Several sessions focused on the emotional well-being of patients and families. Talks and discussions highlighted mental health needs throughout the disease trajectory and presented therapeutic approaches to enhancing psychological resilience. A particular focus was the diagnosis phase and the transition to adulthood, which are often marked by stress, uncertainty, and a need for tailored support systems. A recurring theme was the psychological burden associated with repeatedly recounting the child’s medical history to various specialists, as well as the ongoing challenge of managing and understanding complex medical information and documentation over time. One keynote focused on resilience as a dynamic and learnable process. Drawing on both developmental psychology and clinical experience, the presenter outlined protective factors that foster psychosocial stability, including trusting relationships, meaningful social connections, positive self-concept, and an informed understanding of the disease. This outcome is further supported by a systematic review revealing that social support – both emotional and tangible assistance – is positively associated with caregiver adjustment, underscoring the protective nature of supportive relationships [7]. The presenter emphasised the importance of supporting emotional processing, self-efficacy, and autonomy through age-appropriate information and open dialogue. These insights align with the contextual model of caregiver well-being proposed by Resch et al. [8], which highlights the interplay between access to resources, environmental supports, threat appraisals, and coping abilities as key determinants of parental well-being.
Digital innovation emerged as a central theme across multiple sessions. Presenters discussed tools such as electronic health records (EHRs), mobile health applications (e.g. domo.health), and assistive technologies that enable communication, gaming, and environmental control (e.g. Active Communication). One session highlighted the Swiss Electronic Patient Dossier (EPD), a secure, standardised digital health infrastructure, as an EHR example with the potential to improve information exchange across levels of care, reduce redundant procedures, and empower patients and their families. This is echoed by research on the use of EHRs to empower patients through enhanced information exchange [9]. Future developments, such as patient-centred portals and (electronic) emergency cards, were also discussed, along with the challenges posed by data protection and system interoperability. These digital solutions aim to support everyday functioning and long-term care planning. Participants emphasised the need for user-driven design, accessibility, and integration into existing care infrastructures. This suggests that engaging users in a co-creation design and implementation process is essential to ensure that digital health tools meet the needs of patients and caregivers. Furthermore, the presentations demonstrated how digital onboarding for EPDs can be tailored to families with varying levels of digital literacy, thereby expanding access to digital care.
Empirical evidence presented at the conference revealed regional inequalities in DMD care within Switzerland. Findings from the Care-NMD-CH project [10] illustrated high satisfaction with care management provided in neuromuscular centres, but also variation in access, quality, and coordination of care. National registries and platforms such as Swiss-Reg-NMD and Myosuisse were recognised as key actors in strengthening data-driven policy and fostering cross-sectoral collaboration. Discussions also addressed how affected families can play an active role in research as experts-by-experience through participatory methodologies and citizen science approaches. These networks can also serve as platforms for co-developing and disseminating best practices.
Parallel sessions explored life with DMD from the perspective of autonomy, inclusion, and lived experience. These sessions, co-designed with affected individuals, addressed empowerment strategies, sports and physical activity (e.g. powerchair hockey), and transition planning. The concept of “self-determination rather than independence” emerged as a recurring theme – a subtle but crucial distinction in long-term care planning. Contributions from the GrowDMD project and lived experience narratives encouraged a shift towards inclusive, person-centred care paradigms that value patient voices and contextual expertise.
The contextual model developed by Resch et al. [8] offers a valuable lens for interpreting insights from the conference. It proposes that parental well-being is best understood as a dynamic interplay between environmental and social supports, individual coping skills, and the subjective appraisal of caregiving demands. Importantly, the severity of the child’s condition has less predictive value than access to support systems and the parents’ ability to frame their experiences constructively. These findings resonate with the Swiss context of DMD care discussed at the conference; psychosocial strain, fragmented care pathways, and bureaucratic burdens were frequently cited by participants. By explicitly linking digital innovations (such as the EPD) and psychosocial interventions (such as resilience-building and communication training) to this framework, future programmes can better align support services with the real-world needs of families.
The Duchenne Switzerland Conference 2025 demonstrated the value of inclusive, cross-disciplinary dialogue among families, clinicians, therapists, and researchers in addressing persistent gaps in rare disease care. The strong focus on psychosocial and digital dimensions reflects a growing consensus that comprehensive care must extend beyond medical treatment to incorporate participatory involvement. Digital tools such as the EPD and mHealth apps offer scalable pathways to improve coordination and patient engagement, while psychosocial interventions targeting resilience, coping, and communication are essential for family well-being. Framing these approaches within a contextual and dynamic model of patient and parental well-being helps clarify where structural and emotional support are most impactful. Future efforts should strengthen integration between clinical, technological, and psychosocial systems, while reinforcing participatory structures at every level of care and research. These directions align with broader goals of equity, person-centredness, and sustainability in health systems for rare diseases.
OG reports funding for the Duchenne Switzerland Conference 2025, paid either to the patient organisation Duchenne Switzerland or to a project account at the University of Lucerne from the following entities (also indicated on the website: https://www.duchenne-schweiz.ch/konferenz/): Roche Pharma (Schweiz) AG, PTC Therapeutics, Santhera Pharmaceuticals, University of Lucerne Research Committee, ITF Pharma GMBH, Schweizerische Stiftung für die Erforschung der Muskelkrankheiten (FSRMM), Association Suisse Romande Intervenant contre les Maladies Neuromusculaires (ASRIMM), Cerebral, Mathilde Escher Stiftung, Associazione Malattie Genetiche Rare Svizzera Italiana (MGR), Schweizerische Muskelgesellschaft (SMG), Sternschnuppe, Aeschbach Chocolatier, AHOI book store, KKL Luzern, ORO de Cacao, Ramseier, Say flowers, and Swiss local travel.
All authors have completed and submitted the International Committee of Medical Journal Editors form for disclosure of potential conflicts of interest.
OG received an SNSF Exchange Grant (IZSEZ0 234951; 01.4.25–30.06.25) from the Swiss National Science Foundation for a Workshop on Digital Public Health & Neuromuscular Diseases – Enhancing Communication and Innovation in Paediatric Care. The grant was paid to an account at the University of Lucerne. In addition, OG serves as president of Duchenne Schweiz (a patient organisation for families and patients affected by Duchenne Muscular Dystrophy), is a member of the advisory board of Public Health Schweiz, and co-leads the speciality group on Digital Public Health and Health Geography. All these positions are unpaid.
VW reports serving as an unpaid member of the board of trustees of the Mathilde Escher Foundation, Zurich.
No other authors report any conflicts of interest.
1. Gruebner O, Elayan S, Sykora M, Wolf M, von Rhein M, Fadda M. Pediatric Neuromuscular Diseases and Psychosocial Wellbeing: Why We Also Need to Invest in Digital Platforms [Internet]. Int J Public Health. 2024 Jun;69:1607460. Available from: https://www.ssph-journal.org/articles/10.3389/ijph.2024.1607460/full
2. Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, et al.; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management [Internet]. Lancet Neurol. 2018 Mar;17(3):251–67. Available from: https://linkinghub.elsevier.com/retrieve/pii/S1474442218300243 doi: https://doi.org/10.1016/S1474-4422(18)30024-3
3. Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Colvin MK, et al.; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan [Internet]. Lancet Neurol. 2018 May;17(5):445–55. Available from: https://linkinghub.elsevier.com/retrieve/pii/S1474442218300267 doi: https://doi.org/10.1016/S1474-4422(18)30026-7
4. Straub V, Balabanov P, Bushby K, Ensini M, Goemans N, De Luca A, et al. Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy [Internet]. Lancet Neurol. 2016 Jul;15(8):882–90. Available from: http://linkinghub.elsevier.com/retrieve/pii/S1474442216300357 doi: https://doi.org/10.1016/S1474-4422(16)30035-7
5. Bever A, Audhya I, Szabo SM, Mickle A, Feeny D, Malone D, et al. “You Take This Day by Day, Come What May”: A Qualitative Study of the Psychosocial Impacts of Living with Duchenne Muscular Dystrophy [Internet]. Adv Ther. 2024 Jun;41(6):2460–76. Available from: https://link.springer.com/10.1007/s12325-024-02867-0
6. Balidemaj A, Parsamanesh P, Vysochyn M. Exploring the Dynamics of Caring for a Child With a Terminal Illness of Duchenne Muscular Dystrophy (DMD) and Its Copious Components on the Caregivers. Cureus [Internet]. 2023 May 28; https://www.cureus.com/articles/149610-exploring-the-dynamics-of-caring-for-a-child-with-a-terminal-illness-of-duchenne-muscular-dystrophy-dmd-and-its-copious-components-on-the-caregivers
7. Hawken T, Turner-Cobb J, Barnett J. Coping and adjustment in caregivers: A systematic review [Internet]. Health Psychol Open. 2018 Nov;5(2):2055102918810659. Available from: https://journals.sagepub.com/doi/10.1177/2055102918810659
8. Resch JA, Benz MR, Elliott TR. Evaluating a dynamic process model of wellbeing for parents of children with disabilities: a multi-method analysis [Internet]. Rehabil Psychol. 2012 Feb;57(1):61–72. Available from: https://doi.apa.org/doi/10.1037/a0027155
9. Yanamadala S, Morrison D, Curtin C, McDonald K, Hernandez-Boussard T. Electronic Health Records and Quality of Care: An Observational Study Modeling Impact on Mortality, Readmissions, and Complications [Internet]. Medicine (Baltimore). 2016 May;95(19):e3332. Available from: https://journals.lww.com/00005792-201605100-00010 doi: https://doi.org/10.1097/MD.0000000000003332
10. Waldboth V, Schuler C, Willmann R, Petry H, Weber M, Grädel Messerli B, et al. A participatory mixed-method study protocol to develop, implement and evaluate a Care Management model for patients with Neuromuscular Diseases (Care-NMD-CH Study) (Preprint) [Internet]. 2025. http://preprints.jmir.org/preprint/82833