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Aspiration of food or fluids into airways
Inability to breathe in enough oxygen
Sleep apnea

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Myotonic Dystrophy News

June 27,2025

125,000+ Miles for Awareness: One Man’s Ride to Shine a Light on Myotonic Dystrophy

This summer, a cross-country journey is capturing hearts and uniting motorcycle enthusiasts, rare disease advocates, and families impacted by DM. Patrick "Pat" Cornell—a 60-year-old Navy veteran, 9/11 first responder, and retired firefighter—is riding 125,000+ miles in 125+ days to raise awareness and funds for MDF!

June 27,2025

Thank You Advocates, 6 U.S. Senators Sign DM Research Letter!

For the second year in a row, thanks to the work of MDF advocates across the country, 6 U.S. Senators signed Senator Amy Klobuchar’s (D-MN) letter to the Senate Appropriations committee in support of our request for $10 million in new DM research funding as part of the Congressionally Directed Medical Research Program.

June 27,2025

Meet MDF's Summer 2025 Interns!

MDF is excited to highlight the work of two MDF interns, who are contributing to MDF's mission of Community, Care, and a Cure this summer! We appreciate all of their enthusiasm to improve our support of the DM community!

June 27,2025

2025 Pilot Grant Recipient Feature: Arianna Tucci, MD, PhD

Dr. Arianna Tucci’s research focuses on advancing genomic medicine in rare diseases by analyzing large-scale human genomic data and translating findings into clinically relevant applications. In recent years, she has developed expertise in analyzing short DNA repeats across human genomes, with a particular emphasis on repeat expansion disorders. Her combined expertise in clinical human genetics and genomics has contributed to significant advancements in the field. Dr. Tucci remains committed to improving the diagnosis and care of patients affected by repeat expansion disorders.

June 27,2025

2025 Pilot Grant Recipient Feature: Stéphanie Tomé, PhD

Dr. Stéphanie Tomé, a researcher at the Myology Institute in Paris, has over 15 years of experience. Her research has focused on trinucleotide repeat instability in various neurological and neuromuscular disorders, including Huntington’s disease and myotonic dystrophies. Her current work centers on DM1 and the mechanisms underlying CTG repeat instability. More recently, she has expanded her expertise to DM2.

Questions?

Request Warmline Support! MDF offers a professionally staffed Warmline for people living with myotonic dystrophy, their caregivers, medical professionals and others to ask questions, find support and guidance and, when appropriate, be connected to additional resources and services. Click here to request Warmline Support.

Additional questions? Contact MDF by email at info@myotonic.org or give us a call at 415-800-7777.