Dr. Jacinda Sampson describes strategies for ensuring a successful visit to your medical professional.

Dr. Jacinda Sampson describes the importance of, and strategies for, creating a medical team for myotonic dystrophy care.

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, June 1, 2024 at the Westin Seattle in Seattle, WA.

Join this session to gain an overview of occupational therapy and exercise as they relate to myotonic dystrophy. Learn about modifications to help daily life and how exercise is safe and may be effective for individuals with myotonic dystrophy.

Speakers: Nassim, Rad, MD

Click here to learn more about the 2024 MDF Regional Conference in in Seattle, WA!

Presented at the 2024 MDF Regional Conference on Saturday, May 4, 2024 at the Dunn Tower at Houston Methodist in Houston, TX.

Learn about nutrition and swallowing difficulties in myotonic dystrophy. The session will cover adaptive eating techniques and dietary recommendations that cater to the unique swallowing challenges faced by individuals with DM. Gain practical guidance on enhancing nutritional intake and managing dysphagia, improving overall health and daily functioning.

Speakers: Anna Miller, MS, RD, LD, Senior Clinical Dietitian & Carolyn Martinez, M.A., CCC-SLP, Speech Pathologist, Houston Methodist

Click here to learn more about the 2024 MDF Regional Conference in in Houston, TX!

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 provides an overview of occupational therapy and how you can utilize this form of healthcare and the services it provides.

Speakers: Mikayla Miller, MOT, OTR/L, CBIS

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

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 provides information on social security administration programs, benefits, and services available to the DM community in the US.

Speakers: Lori Crosser LISW ACM, Brittni Engrav LISW

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

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 at the MDF 2024 Regional Conference in Gainesville, FL, on Saturday, March 23, 2024 at the Harrell Medical Education Building at the University of Florida.

This session explores the relationship between myotonic dystrophy and sleep and breathing issues, covering prevalence, impact, and emerging research. Gain practical insights and best practices for managing sleep and breathing issues in both DM1 and DM2, empowering better care and self-management.

Speaker: Megan M. Lowery, MD, Assistant Professor of Medicine, Division of Pulmonary, Critical Care & Sleep Medicine, University of Florida

Click here to learn more about the 2024 MDF Regional Conference in Gainesville, FL at!