THE LOVING mother of a little girl with a rare muscle wasting disease has praised an experimental treatment which has helped her ...

Mia Gaumer of St. Mary’s, who was born with Congenital Myotonic Muscular Dystrophy Type 1, will serve as Little Miss Wheelchair Kansas 2025. In her community, Gaumer has been an ambassador for ...

Myotonic dystrophy (dystrophia myotonica ... 1 Based on the age of onset and on its clinical features, DM1 can be divided into three forms: congenital, classical, and minimal, which may occur in the ...

A recent discovery of a molecular connection between autism and myotonic dystrophy, a type of neuromuscular disease, may provide a breakthrough on how clinicians approach autism spectrum disorder.

Scientists from The Hospital for Sick Children (SickKids) and University of Las Vegas Nevada (UNLV) have uncovered a genetic link between autism spectrum disorder (ASD) and a rare genetic condition ...

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 ...

for the treatment of myotonic dystrophy type 1 (DM1), an investigational treatment designed to address the root cause of DM1, an underrecognized, progressive and often fatal neuromuscular disease ...

Myotonic dystrophy type 1 is an underrecognized, autosomal dominantly inherited, progressive and often fatal disease caused by a triplet-repeat in the DMPK gene, resulting in a toxic gain of function ...

About Myotonic Dystrophy Type 1 Myotonic dystrophy type 1 (DM1) is an underrecognized, autosomal dominantly inherited, progressive and often fatal disease caused by a triplet-repeat in the DMPK ...

Citation: 60 genes implicated in congenital heart disease, including some that also contribute to related disorders such as autism (2025, March 25) retrieved 17 April 2025 from https ...

CARLSBAD, Calif., April 17, 2025 (GLOBE NEWSWIRE) -- Design Therapeutics, Inc. (Nasdaq: DSGN), a clinical-stage biotechnology company developing treatments for serious degenerative genetic ...