Nemaline myopathy patient and caregiver perspectives: a multinational cross-sectional study

Nemaline myopathy (NM) is among the most common of the congenital myopathies, characterized by hypotonia and muscle weakness. Despite its prevalence and morbidity, NM remains underrepresented in studies of lived experience and the impact on patients and caregivers. To expand upon the current knowledge, we conducted an international cross-sectional survey to systematically characterize patient and caregiver perspectives, including daily challenges, medical complications across age groups, and priorities for future treatment development. All respondents reported facing daily challenges, regardless of disease severity. The most frequently cited challenges related to NM included mobility, fatigue, respiratory, and mental health. Our results indicated that children more frequently were reported as having severe phenotypes, and adults often present with milder forms, likely due to survival bias. While 7% of participants reported congenital-onset cardiac complications, 16% reported cardiac complications developing during childhood or adulthood. This study provides the first comprehensive assessment of NM patient and caregiver perspectives across age groups, severity levels, and 33 countries. By uncovering previously unreported insights, these findings establish a more complete understanding of NM that strengthens the patient-centered translational impact for future study and therapeutic development.