ArticleOrphanet journal of rare diseases2025
The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Integrating Assistive Technologies and Smart Home Systems in Neuromuscular Disorders: A Systematic Narrative Review of Clinical Outcomes and Occupational Therapy Perspectives.Occupational therapy international · 2026Pooled it
- Review
- NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.Frontiers in neuroscience · 2025Article
- ALSGate: An Efficient Gated Mixture-of-Experts Model for Reliable ALS Detection Using EMG Signals.Healthcare technology lettersArticle
Corrections and comments
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Authors and funding
18 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeuromuscular diseases (NMDs) comprise a range of genetic and acquired rare disorders that affect motor neurons, peripheral nerves, neuromuscular junctions and skeletal muscles, leading to significant impairments such as muscle weakness and fatigue resulting in functional limitations. This study aims to investigate the prevalence and severity of disease-related symptoms in adult patients with NMDs registered in the European Reference Network (ERN) EURO-NMD. A cross-sectional electronic survey was conducted with 1,253 participants who reported the severity of 28 symptoms, which were scored using multi-criteria decision analysis (MCDA).
resultsThe results identified muscle fatigue, weakness and impaired physical function/activity as the most severe and prevalent symptoms in all NMD groups, followed by coordination and/or balance problems, muscle stiffness, mental fatigue, and pain. Notably, the analysis highlighted differences in symptom severity between disease subtypes and underlined the need for standardised patient-reported outcome measures (PROMs) to address the broad heterogeneity of NMDs.
conclusionsThe 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.
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