Sleep-disordered breathing and effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with myotonic dystrophy type I

Myotonic dystrophy type I (DM1; Online Mendelian Inheritance in Man ® ID 160900) is a hereditary multi-system disorder characterized by myopathic facies, distal muscle wasting, myotonia, bilateral cataract, endocrine and cardiac conduction abnormalities. The prevalence of DM1 in industrialized countries is 3-15/100,000. DM1 follows an autosomal dominant trait and i s caused by an expansion of a trinucleotide CTG-repeat in the 3’-untranslated region of the DMPK gene on chromosome 19 [1].

Source: Neuromuscular Disorders - February 19, 2019 Category: Neurology Authors: Jens Spiesshoefer, Maya Runte, Anna Heidbreder, Michael Dreher, Peter Young, Tobias Brix, Matthias Boentert Source Type: research