Maladie de Steinert : quelle observance, pour quels bénéfices ?

Myotonic Dystrophy Type 1 (DM1) is the most common autosomal dominant muscular dystrophy worldwide. The cognitive defects and cardiac arrrthymias are usual. The respiratory drive is frequently abnormal with hypercapnia, hypersomnia and sleep apnea (obstructive or central). At present, therapy addresses correcting hormonal and glycemic balance, removing cataract, preventing respiratory failure and, above all, major cardiac disturbances. The respiratory management aims to normalize PaCO2 and sleep disturbances and to prevent cardiac arrrthymias. Implement non invasive ventilation is complex in this situation with cognitive deficits. The observance is low, perhaps owing to the misunderstanding and because of the lack of perceived benefit in terms of quality of life or hypersomnia.