DM1 and non-invasive home ventilation: does compliance with treatment influence mortality?

DM1 is a relatively common genetic disease inherited in an autosomal dominant mode. There are several types of DM1 depending on the age of onset: from the congenital form to pauci-symptomatic forms discovered late in adulthood. The muscles, heart, lens, central nervous system and endocrine glands are target organs in this multi-system disease. Respiratory complications are frequent and cause significant morbidity. The pathophysiology of respiratory disease is nonetheless multifactorial (weakness of the respiratory muscles, impairment of respiratory regulatory centers, inhalation pneumopathies linked to swallowing disorders) and patient care is complex. 

In an article published in January 2021, Dutch DM1 specialists looked at compliance with ventilatory support techniques and its possible impact on survival. The records of 224 patients with DM1 were analyzed, among them, 111 received non-invasive nocturnal ventilation, most often due to the presence of daytime hypercapnia. Contrary to conventional wisdom, compliance was found to be good (around 85%). In terms of survival, only patients using their ventilation machine for more than five hours per night saw their survival increase statistically significantly, the indication of starting ventilatory assistance only plays a minor role.


New Insights in Adherence and Survival in Myotonic Dystrophy Patients Using Home Mechanical Ventilation.C Seijger, J Raaphorst, J Vonk et al. Respiration. 2021 (Janv).