Dr. Darren Monckton describes anticipation in myotonic dystrophy, the process by which the disease increases in severity as it is passed from generation to generation.

Watch Part 2 of this series

The Myotonic Dystrophy Foundation is excited to introduce “Understanding Myotonic Dystrophy”, a new series of short educational animations designed to educate people living with myotonic dystrophy (DM) and their healthcare providers!

Our first animation “Understanding Myotonic Dystrophy – The Basics” is a broad introduction to myotonic dystrophy to help increase awareness and understanding.

We are sincerely thankful to all physicians, care providers, and patients for their help providing suggestions, opinions, and input regarding content and design throughout this process. Please let us know what topics you would like us to cover in a future animation. https://forms.gle/DnF1T46cqa1P1w4ZA

Learn more about myotonic dystrophy (DM), explore resources, and find support at https://www.myotonic.org/

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Imagine waking up one day and realising your muscles don’t work quite the way they used to. This could be the first sign of Myotonic Dystrophy, or DM.

Myotonic dystrophy is an inherited disease and a type of muscular dystrophy that frequently causes prolonged muscle contractions and muscle weakness. It can impact everyday activities.

Myotonic dystrophy is caused by an expanded repeat in the DNA that is translated into RNA, which then forms hairpin like structures and traps important proteins.

It comes in two forms: Type 1 and Type 2. Type 1 is the most common. It is caused by an expansion in the DMPK gene. Type 2 is caused by an expansion in the CNBP gene.

The symptoms of myotonic dystrophy can vary a lot. The body systems affected, the severity of symptoms, and the age of onset varies greatly between individuals, even within the same family.

As many as 1 in 2,100 or over 3 million individuals worldwide are affected by the disease. It impacts people of all ages, ethnicities, and backgrounds.

Living with myotonic dystrophy means managing symptoms through a combination of clinical care, medications, and/or lifestyle changes. Your doctor will connect you to specialists and work with you and your care team to develop a personalized treatment plan.

If you or someone you love has been diagnosed with myotonic dystrophy, remember, you are not alone. Support groups and resources are available to provide guidance and community connections.

Originally presented on November 15th, 2024.

Do you have questions for myotonic dystrophy (DM) doctors and therapists? Join Dr. Lorelei Thornburg, Obstetrician/Gynecologist, and Dr. Johanna Hamel, Assistant Professor in Neurology, Pathology, and Laboratory Medicine, from the University of Rochester for an "Ask the Expert" webinar on reproductive health and DM!

Find all our upcoming Ask the Expert dates and previously recorded sessions! >>>

MDF Resources referenced in this video:

• Clinical Recommendations for People of Pregnancy Potential with Myotonic Dystrophy
• Toolkits & Publications
• Support Groups
• Calendar of Events
• DM Drug Development Pipeline
• Myotonic Dystrophy Family Registry
• 2025 MDF Annual Conference
• Sign up for My Dispatch, our monthly e-newsletter!

About our Myotonic Dystrophy Experts

Dr. Lorelei Thornburg, Obstetrician/Gynecologist, University of Rochester  

Dr. Thornburg joined the faculty of the University of Rochester in June 2008. She received her undergraduate degree from Kalamazoo College graduating cum laude, and her medical degree from Wayne State University in Detroit, Michigan where she received the David S. Diamond Memorial Award in Obstetrics and Gynecology and was elected to the Alpha Omega Alpha honor society. She completed her residency in Obstetrics and Gynecology at the University of Rochester in Rochester, New York in 2005, where she also served as administrative chief resident during the final year of her residency. Dr. Thornburg completed her fellowship in Maternal Fetal Medicine (Perinatology- High Risk Obstetrics) at the University of Rochester in Rochester, New York in 2008. She received the Ward L Ekas, the George C. Trombetta, the Obstetrical Perinatology, Dr. Curtis J. Lund, and the Creog Awards for leadership and teaching during the course of her residency, and the Todd Faculty Fellowship in Maternal Fetal Medicine Award during her fellowship. She is a board-certified Obstetrician/Gynecologist and Maternal Fetal Medicine and is a Fellow of the American College of Obstetrics and Gynecology. Active areas of research include maternal obesity, ultrasound and resident education.

Dr. Johanna Hamel, Assistant Professor in Neurology, Pathology, and Laboratory Medicine, University of Rochester  

Dr. Hamel is an Associate Professor of Neurology, Pathology and Laboratory Medicine and specializes in the diagnosis and treatment of neuromuscular diseases. Dr. Hamel cares for patients with acquired and hereditary neuromuscular diseases in clinic, with special expertise in myotonic dystrophy (DM) type 1 and type 2 and FSHD. Dr. Hamel also performs electrodiagnostic studies in the EMG lab and teaches residents about neuromuscular diseases. She graduated from medical school at the Martin-Luther-University Halle-Wittenberg in Germany and worked as a neurology resident and researcher at the Charité in Berlin before completing a neurology residency and a clinical neuromuscular fellowship at the University of Rochester.

Presented at the 2024 MDF Regional Conference on Saturday, May 18, 2024 at Covel Commons on the UCLA campus in Los Angeles, CA.

This session covers cardiac considerations in myotonic dystrophy including how DM can affect the heart, common issues, the latest research, and best practices for care.

Speakers: Daniel Cruz, MD, PhD, UCLA Health

Click here to earn more about the 2024 MDF Regional Conference in in Los Angeles, CA!

Presented at the MDF 2024 Regional Conference in Iowa City, IA, on Saturday, April 20, 2024 at the Iowa Memorial Union building at the University of Iowa in Iowa City, IA.

This session is for those new to the DM1 community and those seeking a refresher. It includes an overview of DM1 genetics, symptoms, self-management, and working with your clinical care team to ensure the best quality of life.

Speaker: Andrea Swenson, MD Medical Director, University of Iowa Myotonic Dystrophy Clinic

Click learn more about the 2024 MDF Regional Conference in Iowa City, IA, at!

Presented on September 9th, 2023.

Johanna Hamel, MD
University of Rochester Medical Center, Rochester, New York, United States

Authors: Johanna Hamel, Katy Eichinger, Jeanne Dekdebrun, James Hilbert, Chad Heatwole, Richard Moxley, Michael McDermott, Charles Thornton

Myotonic dystrophy type 2 (DM2) causes progressive muscle weakness, myotonia, variable muscle pain, cardiac conduction block, cataracts, and GI dysmotility. Here we utilize the National Registry and a longitudinal prospective study to characterize disease burden and progression in DM2. The National Registry provides up to 20 years of patient-reported follow-up on important disease milestones, such as the use of assistive devices, non-invasive ventilation, or implantable cardiac devices. The natural history study spans 3 years and provides comprehensive and quantified information on strength and function in people with DM2. To date, 39 participants with DM2 enrolled. Preliminary data on strength, function, and effects on the transcriptome will be presented.

Click here to learn more about the 2023 MDF Annual Conference.

Presented on September 8th, 2023.

Johanna Hamel, MD
University of Rochester Medical Center

This session is ideal for those new to the DM1 community and those seeking a refresher. Learn from a leading expert about the causes and genetics underlying DM1, how and when in life it can affect different symptoms of the body, tips for self-management of symptoms, and how to best work with your clinical care team to ensure the best quality of life.

Click here to learn more about the 2023 MDF Annual Conference.

Originally presented on September 10th, 2021 as a part of the Professional Track at the 2021 Virtual MDF Annual Conference.

Repeat instability is the crux of myotonic dystrophy disease. Join three leading researchers for a panel presentation of research addressing possible opportunities for repeat stabilization. Dr. Pearson presents recent research into mouse model repeat stabilization for Huntington's with a discussion of implications for DM. Dr. Monckton discusses somatic CTG repeat expansion in DM1, with respect to dynamics, consequences, and therapeutic opportunities. Dr. Bialek discusses the work of Triplet Therapeutics in utilizing ASOs and siRNAs to stabilize repeat expansion.

Speakers include:

• Peter Bialek, PhD
• Darren Monckton, PhD
• Christopher Pearson, PhD

Originally presented on September 10th. 2021 as a part of the DM2 Track at the 2021 Virtual MDF Annual Conference.

Learn about genetic factors causing DM2, the different body systems affected, the most common symptoms, and how best to manage and provide care for the disease from a leading expert. Appropriate for newly diagnosed and those living with DM2 for many years.

Speakers include:

• Johanna Hamel, MD
• Lindsey Baker, PT
• Araya Pwanant, MD

Originally presented on September 10th, 2021 as a part of the DM1 Track at the 2021 Vitual MDF Annual Conference.

Learn about genetic factors causing DM1, the different body systems affected, the most common symptoms, and how best to manage and provide care for the disease from a leading expert. Appropriate for newly diagnosed and those living with DM1 for many years.

Presented by Jacinda Sampson, MD, PhD.