Myotonic Dystrophy Awareness Day: Overviewing Emerging Therapies

Myotonic dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy, caused by an expanded CTG repeat in the DMPK gene that produces a toxic RNA and disrupts normal splicing throughout the body.¹ The result is a multisystem disease, marked by progressive muscle weakness and myotonia alongside cardiac, ocular, and cognitive effects, and it's more common than once thought: a 2021 population-based analysis put its prevalence at roughly 1 in every 2,100 people.² There is still no FDA-approved disease-modifying therapy.