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EURO-NMD is pleased to introduce three new Patient Journeys dedicated to: ๐น Amyotrophic Lateral Sclerosis (ALS)
๐น Myositis
๐น Mitochondrial Diseases Developed in collaboration with healthcare professionals and patient representatives, these Patient Journeys provide a clear overview of the different stages of care, from diagnosis and treatment to long-term follow-up and support. They aim to help patients and families better understand what to expect throughout their care pathway, while also supporting healthcare professionals in delivering coordinated, patient-centred care. Explore our new Patient Journeys and discover these practical resources designed to support the neuromuscular community.
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EURO-NMD is pleased to announce the renewal of its collaboration with the European Molecular Genetics Quality Network (EMQN) for another year. As part of this agreement, EURO-NMD will cover the registration fees for up to 30 laboratories affiliated with EURO-NMD Healthcare Providers wishing to participate in the 2027 Neuromuscular Disorders External Quality Assessment (EQA) Scheme. Participating laboratories will be able to choose between DMD/BMD Targeted Testing, NMD Gene Panel Testing, or a combination of both. ๐
Registration is expected to open in September 2026, with sample distribution planned for January 2027 and completion of the scheme in July 2027. ๐ Interested laboratories are invited to complete the Expression of Interest form:
https://tally.so/r/GxjQRj Please note that a selection process may be required if the number of applications exceeds the available funded places. For further information, please contact Carla DโAngelo: c.dangelo@ern-euro-nmd.eu
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Learn how to use the Clinical Patient Management System (CPMS), the secure European platform that allows specialists across the Euro-NMD ERN to collaborate on complex rare disease cases. These short training sessions will help you navigate the system, create and manage panels, and share patient information safely and efficiently.
Make the most of the CPMS to strengthen collaboration and improve care for people with rare diseases.
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A new international multicentre retrospective study, the CHKB-Myo Survey, aims to better characterise the clinical spectrum of CHKB-related myopathy, an ultra-rare neuromuscular disease with fewer than 50 patients reported worldwide. The study will include patients with molecularly confirmed CHKB-related myopathy, covering both paediatric and late-onset presentations. Its objectives are to describe the clinical and paraclinical phenotype, disease progression, and explore potential genotypeโphenotype correlations. Participating centres will contribute existing clinical data through a standardised Case Report Form (CRF). No additional visits, investigations or patient interventions are required. The project involves neuromuscular reference and expert centres across Europe, including centres within ERN EURO-NMD and FILNEMUS.
Read the Summary here! ๏ปฟ
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To mark World Mitochondrial Disease Awareness Month, ERN EURO-NMD is pleased to present a special series of four webinars dedicated to mitochondrial diseases. Throughout September, leading experts in the field will share their knowledge and perspectives on key topics related to the diagnosis, management and understanding of mitochondrial disorders. The webinars will take place every Thursday at 16:00 CEST and are open to healthcare professionals, researchers, students, patient representatives and anyone interested in mitochondrial diseases.
More information and registration here!
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If you missed a webinar, don't panic! All our webinars are recorded and made available on our website. |
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Saturday, 10 October 2026 | 08:30โ13:30 CET Our partner ERN-RND is organising a scientific symposium on the role of registries in rare neurological diseases. The programme will explore how patient registries contribute to natural history research, clinical trial readiness and evidence generation. Experts, healthcare professionals, regulators and patient representatives will discuss: - Frameworks for rare neurological disease registries
- Examples of registry initiatives within ERN-RND
- Patient and family expectations
- Regulatory and methodological considerations
- The use of registry data in clinical trials and post-authorisation studies
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A new paper published in Frontiers in Public Health highlights the important role of European Reference Networks (ERNs) in supporting the referral and care of infants with positive genetic newborn screening results. Developed within the Screen4Care (S4C) project, the publication proposes an operational framework to help ensure that infants identified through genetic newborn screening are referred to the most appropriate ERN and healthcare provider, supporting timely, specialised and equitable access to care across Europe. Screen4Care aims to screen 18,000 newborns using the 245-gene TREAT panel. EURO-NMD is pleased to have contributed to this collaborative work alongside other ERNs and Screen4Care partners. Special thanks to Fernanda Fortunato for her extensive work and commitment to the development of this publication. Journal: Frontiers in Public Health Publication details: Volume 14, Article 1822461 (2026). Publication date: 10 June 2026. Article type: Original Research article (Open Access). DOI: https://doi.org/10.3389/fpubh.2026.1822461
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The 6th Baltic School of Neuro-Myology will take place 11โ12 September 2026 in Kaunas, Lithuania, as an in-person meeting. This year's programme will focus on improving multidisciplinary care for neuromuscular diseases, offering sessions relevant to a wide range of healthcare professionals, including neurologists, paediatric neurologists, pulmonologists, cardiologists, physiotherapists, rehabilitation physicians, orthopaedic specialists, and other clinicians involved in neuromuscular care. The primary target audience is neurologists and paediatric neurologists specialising in neuromuscular diseases. The meeting is organised by: - Hospital of Lithuanian University of Health Sciences Kaunas Clinics
- Lithuanian University of Health Sciences
- Lithuanian Neurological Society
- Lithuanian Society of Clinical Neurophysiology and Neurosonology
Programme: https://reg.eventas.lt/website/19639/programme/
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29 September โ 3 October 2026
๐ Hiroshima, Japan The 31st Annual Congress of the World Muscle Society (WMS) will bring together clinicians, researchers, healthcare professionals and trainees from around the world to share the latest advances in neuromuscular diseases, muscle research and patient care. The 2026 programme will feature cutting-edge scientific and clinical developments, educational sessions and opportunities for international collaboration, networking and mentoring. This edition will also mark the second WMS Congress to be held in Asia, following the 2010 meeting in Kumamoto, further strengthening collaboration and the development of myology across the region. Hosted in Hiroshima, the Congress will highlight the importance of global cooperation in advancing research and care for people living with neuromuscular diseases.
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Since 2008, the EPNS Research Meeting has brought together leaders, researchers, and young fellows in Paediatric Neurology to present work, exchange ideas, and foster networking and collaborative projects across Europe and beyond. Who can attend?
Child neurologist researchers at all career stages โ senior colleagues, junior scientists, and PhD students โ are welcome. Important: All participants must be EPNS members with a 2026 membership. Reduced fees are available for trainees, neuroscientists, and PhD students. For membership info, contact info@epns.info or visit EPNS Membership Fees. Donโt miss this opportunity to showcase your research and connect with the paediatric neurology community!
Dates: 16 โ 17 Oct 2026 Location: Greece
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Launch of the 2026 Call for Affiliated Partners The Board of Member States (BOMS), meeting in Rome in 2025, endorsed the launch of a new Call for Affiliated Partners within the European Reference Networks (ERNs), marking an important step in strengthening collaboration across the ERN community. For ERN EURO-NMD, the call is open to three eligible countries currently not represented in the network: Croatia, Romania and Slovakia. Launched on 13 April 2026, the call will remain open for applications until 1 September 2026, with final endorsement expected in March 2027. The initiative aims to welcome new Affiliated Partners, further strengthen European cooperation in rare neuromuscular diseases, and expand the reach and impact of ERN EURO-NMD.
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An international case series led by Dr Grace McMacken (Queenโs University Belfast), with the support of the NMJ Working Group of ERN EURO-NMD, is seeking cases of patients with co-existing facioscapulohumeral muscular dystrophy (FSHD) and myasthenia gravis (MG). A recent UK multicentre study identified a higher-than-expected co-occurrence of AChR-positive MG in patients with genetically confirmed FSHD, suggesting a potential non-random biological association. This new international study aims to further characterise the clinical phenotype of this rare combination in a larger cohort. Eligible casesThe study is looking for patients with: - Confirmed FSHD, genetically or clinically diagnosed with supportive features
- Co-existing confirmed MG, based on clinical, serological and/or neurophysiological criteria
Healthcare professionals with eligible patients who would like to contribute are invited to contact Dr Grace McMacken at g.mcmacken@qub.ac.uk to receive the full study pack, data collection form and collaboration agreement. ๐
Data submission deadline: 18 September 2026
FSHD-MG International Case Series โ Study Overview
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