We report on a preterm neonate of 30 weeks gestational age who presented with marked muscular hypotonia and severe respiratory failure at birth and was diagnosed with congenital myotonic dystrophy.

In recent years, a growing understanding of myotonic dystrophy type 1 (DM1)—an often fatal, devastating, rare neuromuscular disorder that causes muscle weakness and other life-limiting ...

Eligible participants included individuals aged 12 years or older with a diagnosis of myotonic dystrophy type 1, excluding those with congenital myotonic dystrophy. Participants were required to ...

Patients with myotonic dystrophy have smaller hearts, and lower systolic and diastolic blood pressures and pulse rates. They have impaired autonomic reflexes, measured by orthostatic, Valsalva ...

Myotonic dystrophy type 1 (DM1 ... Patients with an earlier onset age - juvenile, infantile, or even congenital - tend to be more severely affected. Beyond classical cellular models Researchers ...

More information: Preeti Kumari et al, Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1, Nature Communications (2025). DOI: 10.1038 ...

How would you summarize your study for a lay audience? Myotonic dystrophy type 1 (DM1), a genetic disorder, shares overlapping features with chronic kidney disease, including progressive muscle ...

About the rSM Program to Treat Myotonic Dystrophy Type 1 (DM1) Myotonic dystrophy type 1 (DM1) is a form of muscular dystrophy and a genetic neuromuscular disease affecting at least 1 in 8,000 ...