The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey
The findings stress the critical importance of capturing patient perspectives to guide clinical care, research priorities and therapeutic development. This work argues for the development of uniform PROMs to better assess disease impact, natural history and treatment efficacy, contributing to improved patient-centred care across diverse NMD populations.
Authors
- Edoardo Malfatti (ORCID: https://orcid.org/0000-0001-7871-8600)
- Marianne Nordstrøm (ORCID: https://orcid.org/0000-0001-6327-2052)
- Janbernd Kirschner (ORCID: https://orcid.org/0000-0003-1618-7386)
- François Lamy (ORCID: https://orcid.org/0000-0001-6542-1381)
- Cornelia Kornblum (ORCID: https://orcid.org/0000-0002-0111-7281)
- Vincenzo Silani (ORCID: https://orcid.org/0000-0002-7698-3854)
- Alessandra Ferlini (ORCID: https://orcid.org/0000-0001-8385-9870)
- Davide Pareyson (ORCID: https://orcid.org/0000-0001-6854-765X)
- Peter Van den Bergh (ORCID: https://orcid.org/0000-0003-1954-4617)
- Michelangelo Mancuso (ORCID: https://orcid.org/0000-0003-2738-8562)
- Hanns Lochmüller (ORCID: https://orcid.org/0000-0003-2324-8001)
- António Atalaia (ORCID: https://orcid.org/0000-0002-9345-0953)
- Lorenzo Maggi (ORCID: https://orcid.org/0000-0002-0932-5173)
- Kleopas A. Kleopa (ORCID: https://orcid.org/0000-0002-4103-8094)
- Marianne de Visser
- Teresinha Evangelista
- Alessandro Colitta
- Manuela Lavorato
Institutions
- University of Pisa (IT)
- Oslo University Hospital (NO)
- Cliniques Universitaires Saint-Luc (BE)
- Inserm (FR)
- University of Freiburg (DE)
- University of Milan (IT)
- Université Paris-Est Créteil (FR)
- University of Ferrara (IT)
- Children's Hospital of Eastern Ontario (CA)
- University Hospital Bonn (DE)
- Sorbonne Université (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Association Francaise contre les Myopathies (FR)
- Amsterdam Neuroscience (NL)
- Institut de Myologie (FR)
- Pitié-Salpêtrière Hospital (FR)
- Hôpitaux Universitaires Henri-Mondor (FR)
- IRCCS Istituto Auxologico Italiano (IT)
- Centro Nacional de Análisis Genómico (ES)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Institut Mondor de Recherche Biomédicale (FR)
- Ferrari (Italy) (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- Azienda Ospedaliera Universitaria Pisana (IT)
- Centre de Recherche en Myologie
- Cyprus Institute of Neurology and Genetics (CY)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-05-08
- DOI
- https://doi.org/10.1186/s13023-025-03742-z
- Citations
- 3
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.42
Funders
- Charcot-Marie-Tooth Association
- E-Rare
- Government of Canada
- European Commission
- Canada Research Chairs
- Fondazione Telethon
- Ministero della Salute
- Canada First Research Excellence Fund
- National Institutes of Health
- Canadian Institutes of Health Research