Myotonic Dystrophy News and Research

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Myotonia may play a much larger role in driving muscle damage than previously recognized

For decades, researchers studying myotonic dystrophy type 1 (DM1) have focused on the disease's underlying genetic cause: a mutation that produces a toxic form of RNA, disrupting the normal processing of thousands of genetic messages inside cells.

13 Jul 2026

Toxic RNA drives progressive heart damage in myotonic dystrophy

Myotonic dystrophy type 1 (DM1) is the most common cause of adult-onset muscular dystrophy, a genetic disorder that leads to muscle weakness and wasting, but also affects the brain, the gastrointestinal tract and the heart.

3 Apr 2026

Genetic study reveals how DNA repeats expand with age

An analysis of genetic data from over 900,000 people shows that certain stretches of DNA, made up of short sequences repeated over and over, become longer and more unstable as we age.

7 Jan 2026

Over-contracted gut muscles drive gastrointestinal symptoms in myotonic dystrophy

Myotonic dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy, affecting about 1 in 8,000 people. While it is well known for causing muscle weakness and stiffness, DM1 also affects other organs, including the brain, heart and gastrointestinal (GI) tract.

12 Dec 2025

Smartphones match traditional methods in monitoring patients with muscular dystrophy

Stanford Medicine researchers found that a smartphone could monitor patients with two types of muscular dystrophy as well as traditional methods and diagnose conditions more accurately — at no cost.

3 Nov 2025

Study reveals a molecular connection between autism and myotonic dystrophy

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.

21 Apr 2025

Researchers uncover genetic link between autism spectrum disorder and myotonic dystrophy type 1

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 called myotonic dystrophy type 1 (DM1).

21 Apr 2025

Testing a novel approach to restore normal heart function in Myotonic Dystrophy Type 1

Myotonic Dystrophy Type 1 (DM1) is the most common adult-onset form of muscular dystrophy and a condition that severely affects multiple organs including skeletal muscle, heart, brain and the gastrointestinal tract.

18 Mar 2025

Research links kidney dysfunction to muscle weakness in myotonic dystrophy type 1

Thurman M. Wheeler, MD, of the Department of Neurology at Massachusetts General Hospital, is the senior author of a paper published in Nature Communications, "Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1."

8 Mar 2025

Decades of DNA expansion linked to Huntington’s disease neurodegeneration

Researchers uncover how slow CAG repeat expansions in neurons drive Huntington’s disease over decades.

24 Jan 2025

Scientists discover new mechanism behind Huntington’s disease brain cell death

Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells.

16 Jan 2025

New insights into cardiac defects in Myotonic Dystrophy Type 1

People with Myotonic Dystrophy Type 1 (DM1), the most common adult-onset form of muscular dystrophy, progressively lose muscle mass and strength in their lower legs, hands, neck and face.

29 Oct 2024

Weill Cornell Medicine researcher wins $2.1 million grant to study repetitive DNA and RNA sequences

Dr. Jeannine Gerhardt, an assistant professor of stem cell biology in obstetrics and gynecology and in reproductive medicine at Weill Cornell Medicine, has received a five-year, $2.1 million grant from the National Institute of General Medical Sciences (NIGMS), part of the National Institutes of Health, for the study of repetitive DNA and RNA sequences and the mechanisms by which they cause cell dysfunction and diseases.

30 Jan 2024

Myotonic Dystrophy News and Research

Myotonia may play a much larger role in driving muscle damage than previously recognized

Toxic RNA drives progressive heart damage in myotonic dystrophy

Genetic study reveals how DNA repeats expand with age

Over-contracted gut muscles drive gastrointestinal symptoms in myotonic dystrophy

Smartphones match traditional methods in monitoring patients with muscular dystrophy

Study reveals a molecular connection between autism and myotonic dystrophy

Researchers uncover genetic link between autism spectrum disorder and myotonic dystrophy type 1

Testing a novel approach to restore normal heart function in Myotonic Dystrophy Type 1

Research links kidney dysfunction to muscle weakness in myotonic dystrophy type 1

Decades of DNA expansion linked to Huntington’s disease neurodegeneration

Scientists discover new mechanism behind Huntington’s disease brain cell death

New insights into cardiac defects in Myotonic Dystrophy Type 1

Weill Cornell Medicine researcher wins $2.1 million grant to study repetitive DNA and RNA sequences

Calcium channel blockers reverse muscle weakness in animal model of myotonic dystrophy type 1

Next-generation sequencing provides novel insights into the mechanisms underlying autism and myotonic muscular dystrophy

Alternative splicing in neurodegenerative disease and the promise of RNA-based therapeutic strategies

Same genetic defects shared by some patients with motor neuron disease and frontotemporal dementia

Alternative splicing plays a role in compensating for loss of gene function

Mouse model reveals link between GABA receptors and sleepiness in people with myotonic dystrophy

Stanford Medicine study shows SARS-CoV-2 can infect human fat tissue

Industry Focus eBook - Forensics & toxicology (2nd edition) eBook

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The role of UV-Vis in biopharma QC

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