Abstract Introduction Myotonic Dystrophy is a heterogenous, multi-systemic disorder with no cure. Survival is 54-58 years, and the most common cause of death is respiratory insufficiency, treated principally by Non-invasive Ventilation (NIV). We aim to characterise service delivery and map to consensus-based treatment recommendations in Myotonic Dystrophy patients treated by a hospital sleep disorders centre from 2004-2024. Methods Demographic, diagnostic, treatment and outcome data was extracted for 68 patients. Service flow was described, and indications and interventions mapped to “Consensus-Based Care Recommendations for Pulmonologists Treating Adults with Myotonic Dystrophy Type 1.” Pooled, compliance-dependent and time-trend survival, and contributors to BiPAP-indication and mortality were assessed. Preliminary survival data from a subset of participants is reported here. Results Patients and their treatment pathways were heterogeneous. PAP-prescription in 62 patients (43 BiPAP, 16 CPAP) was 85% compliant with consensus-based initiation recommendations. Preliminary data indicates treatment uptake and adherence in ~50% of the cohort. Age-of-onset, lung-function, PaCO2 and nocturnal SpO2 contributed to BiPAP recommendation and mortality. Preliminary data indicates that ≥4 hours/day adherence does not improve survival and risk of mortality has not reduced over time with guideline introduction. Discussion Preliminary data suggests that ≥4 hours/day NIV adherence does not prolong survival in Myotonic Dystrophy. Whilst NIV is credited with increasing life-expectancy in other neuromuscular disorders, there was no change in time-trend survival in this study. Further analysis and additional research on treatment response is warranted to evaluate the effectiveness of NIV in this group.
Childs et al. (Wed,) studied this question.
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