Effects of 1-month withdrawal of ventilatory support in hypercapnic myotonic dystrophy type 1

Background and objective: The benefits of domiciliary non-invasive ventilation (NIV) in myotonic dystrophy type 1 (DM1) are unclear. We sought to determine the effects of elective discontinuation of ventilatory support for 1 month in DM1 patients receiving NIV for chronic hypercapnic respiratory failure. Methods: At baseline, 12 patients underwent polysomnography, and assessment of subjective (Epworth Sleepiness Scale) and objective (Oxford Sleep Resistance Test) sleepiness, fatigue (Fatigue Severity Scale), respiratory function including muscle strength, arterial blood gas (ABG), hypercapnic ventilatory response (HCVR), Blood Pressure, peripheral arterial tonometry (PAT) and pulse wave velocity (PWV). They also completed the SF36. Testing was repeated (Visit 2) 1 month after elective cessation of NIV and again (Visit 3) 1 month after NIV reintroduction. Results: No changes were seen in SF36, sleepiness or fatigue, respiratory function, muscle strength nor HCVR. Likewise, there were no changes in Blood Pressure, PAT or PWV. Mean nocturnal SpO2 deteriorated off NIV and improved on resumption (mean +/- SD = 95.02 +/- 1.90%, 92.23 +/- 3.61% and 95.08 +/- 2.28%, P = 0.006 change Visit 1 to Visit 2, 0.009 Visit 2 to Visit 3). Daytime PaCO2 (arterial partial pressure of carbon dioxide) was 43.13 +/- 4.20 mm Hg, 46.28 +/- 2.25 mm Hg and 43.87 +/- 2.85 mm Hg, P = 0.056 and 0.017 over the same intervals. Conclusion: DM1 patients derive little benefit in symptoms or quality of life from NIV. Nocturnal and diurnal ventilatory functions deteriorate slightly off NIV for 1 month, but this does not appear to be due to changes in HCVR or respiratory function. HCVR changes may be of primary CNS origin given stability on or off NIV.