Myotonic Dystrophy Type 1: Enhancing Patient Management Through Genetic and Multisystem Studies
January 2023
TLDR There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
Myotonic dystrophy type 1 (DM1) is a multisystem disorder characterized by myotonia and muscle weakness, caused by a CTG-repeat expansion in the DMPK gene. There are no curative treatments available, so management focuses on monitoring disease progression and early detection of complications. The thesis aims to enhance DM1 patient management by expanding knowledge on genetic inheritance, particularly small-sized repeat expansions, and multisystem involvement, including cardiac follow-up and the study of energy expenditure and body composition in affected individuals.
