Background: Myotonic dystrophy (DM) is a diverse neuromuscular condition that affects many systems of the body, including muscle and brain. Symptoms, severity, and age of onset dramatically differ from one person to the next, making the impact of the condition vary greatly. Given the diversity of DM, it can be difficult to get a diagnosis quickly, understand the impact of the condition, or find medical experts able to manage the complex needs. Furthermore, it is not clear what the downstream socioeconomic consequences of DM are, such as what variables lead to reduced participation in the work force or reduced income relative to the general public.
Objective: Understand the experiences and needs of people with DM in order to identify the most impactful symptoms and experiences.
Approach: We mailed almost 4000 paper-based questionnaires out to registry enrollees in North America. A summary analysis of the dataset was published in 2019, and now we have performed a deeper statistical analysis to better understand the intricate interplay between symptoms, socioeconomic impacts, access to healthcare providers, and a patient's understanding of the condition.
Results: We received 1180 responses from people with DM, and 402 family member/caregiver responses. Examination of the most impactful symptoms (weakness, fatigue, sleepiness, balance, and myotonia) and personal income demonstrated the connection between the two in some symptoms but not others. Other possible contributors to reduced personal income and participation in the work force, such as educational attainment and age at symptom onset were also assessed. Differences in responses of those that were dissatisfied with their healthcare experience or who did not understand their disease risks were examined to understand what other variables might be correlated with these unmet needs.
Conclusion: DM has a broad impact on the everyday life of those with the condition. A wide variety of symptoms and experiences shared by respondents helped highlight the difficulties this community experiences, and the unmet needs that remain.