What Is Myotonic Dystrophy Type 1 (DM1)? скачать в хорошем качестве

What Is Myotonic Dystrophy Type 1 (DM1)?

Art Levin, PhD, distinguished scientist and strategic leader and member of the company’s board of directors at Avidity Biosciences, provides an overview of myotonic dystrophy type 1 (DM1). As Dr. Levin explains, DM1 is a form of muscular dystrophy characterized by myotonia or the inability for muscles to relax, as well as muscle weakness. Other common symptoms include respiratory problems, fatigue, hypersomnia, cardiac abnormalities, severe gastrointestinal complications, and cognitive and behavioral impairment. DM1 is caused by a triplet-repeat in the DMPK gene, resulting in a toxic gain of function mRNA. Currently, there are no approved treatments for DM1. The phase 1/2 MARINA trial is currently investigating AOC 1001 in patients with myotonic dystrophy type 1 (DM1). Recent positive data demonstrates the drug’s safety and tolerability, and provides early signs of efficacy. To learn more about DM1 and other rare musculoskeletal diseases, visit checkrare.com/diseases/musculoskeletal