Objectives Pain is often overlooked in genetic muscle disease, despite there being large studies showing that pain may affect over two thirds of such patients, and is often manageable. We set out to discover how prevalent pain is in New Zealand patients with these conditions and how it affected their quality of life, participation in society and use of public health resources.

Methods In 2015–2016, a national study called MD-Prev of the frequency and impact of genetically determined muscle disease, was undertaken in New Zealand. 964 patients were ascertained. All participants were offered a chance to answer questionnaires regarding their condition and its impact on their lives and functioning.

Results Five-hundred and ninety eight of the 964 (62%) patients agreed to participate and were able to fill in the questionnaires. The most common conditions were myotonic dystrophy type 1, dystrophinopathies, facioscapulohumeral dystrophy (FSHD) and limb girdle muscular dystrophies (LGMD) affecting 35.6%, 19.5%, 12.8% and 9.6%, respectively. Pain was common in our patients affecting 61% overall. It was higher in LGMD (74.0%) and FSHD (69%) but somewhat lower in dystrophinopathies (62.5%) and myotonic dystrophy (58.7%). Pain scores (McGill Pain Questionnaire) were higher in FSHD and myotonic dystrophy than dystrophinopathies. Higher pain scores were associated with decreased QoL, decreased participation in society and greater use of the health system (p<0.05 for each).

Conclusions Pain is a significant aspect of genetic muscle disease and treating it may lead to substantially better outcomes for patients.