A father and son living with myotonic dystrophy type 2 describe the unique pain they experience with this disease.

Presented on September 9th, 2023.

Araya Puwanant, MD, MS
Wake Forest University School of Medicine, Winston Salem, North Carolina, United States

Myotonic dystrophy type 2 (DM2), an autosomal dominant muscular dystrophy, is characterized by late-onset progressive proximal muscle weakness, myotonia, and multisystem features. DM2 results from a CCTG repeat expansion in the cellular nucleic acid binding protein (CNBP) gene, where the RNA gain-of-function is considered the primary mechanism that leads to myopathy. Although muscle structure measures from magnetic resonance imaging (MRI) have been used to assess disease severity in other muscular dystrophies, relatively little is known about how these measures are affected in DM2. While major progress has been made in drug development in myotonic dystrophy type 1 (DM1), identifying sensitive biomarkers of disease severity is essential to inform future clinical trial design in DM2. This presentation will review various imaging modalities employed in studies of DM2, from muscle ultrasound and DXA regional body composition to advanced MRI. We will discuss the strengths and limitations of each imaging technique in capturing abnormalities of muscle structure and function. The talk will focus on the latest research findings on muscle MRI in patients with DM2 compared to the control and DM1 groups, how these findings correlate with clinical endpoints, and whether MRI measures could serve as sensitive biomarkers of disease progression in DM2. Finally, we will discuss our pilot data from the DM2 brain study and the role of white matter abnormalities facilitating motor dysfunction, which is already compromised by dystrophic muscle pathology in DM2.

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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.

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Presented on September 9th, 2023.

Irene Sonu, MD
Stanford University

This session explores the ways in which DM2 affects the GI system, treatment and management strategies aimed at alleviating GI issues, and improving quality of life.

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Presented on September 8th, 2023.

John Day, MD, PhD
Stanford University

This session will cover sleepiness and other sleep disturbance considerations for both DM1 and DM2. Learn from a leading expert about sleepiness, and other sleep disturbances related to DM1 and DM2, best practices for care, monitoring, and self-management. Learn also about the latest research and how you can get involved!

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Presented on September 9th, 2023.

Pradeep P.A. Mammen, MD, FACC, FAHA, FHFSA
University of Kansas Medical Center

Learn from a leading expert about the effect of Myotonic Dystrophy Type 2 (DM2) on the heart.

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Presented on September 10, 2022.

Presented by Tom McPeek, Lorrie Gallagher, E. Kahlifa, and Elyse Posner

Hear from a panel of individuals with DM2 about how they live their best life.

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Presented on September 9, 2022.

Presented by Thurman Wheeler, MD, of Massachusetts General Hospital

Learn from a leading expert about the causes and genetics underlying DM2, how and when in life it can affect different systems of the body, and how best to self-manage and work with a care team to ensure the best quality of life. Learn too, about the latest research in DM2 and how you can get involved.

Click here to learn more about the 2022 MDF Annual Conference.

Originally presented on March, 18th, 2022.

Do you have questions for DM doctors and therapists? Join Johanna Hamel, MD, and Lindsay Baker, PT, of the University of Rochester, for an “Ask-the-Expert” session on the DM2 & Managing Pain.

Click here to find all our upcoming “Ask-the-Expert” question sessions!

Johanna Hamel, MD

Dr. Hamel is Assistant Professor of Neurology, Pathology and Laboratory Medicine and specialized in the diagnosis and treatment of neuromuscular diseases. Dr. Hamel cares for patients with DM2 and DM1 in clinic at the University of Rochester. As a researcher, she is focused on determining the best ways to measure symptoms and disease progression.

She is interested in gaining a better understanding why DM can be so variable between people, even within one family, and the underlying molecular mechanisms of variability. Her goal is to expand the reach to patients with DM, and make it easier to participate in research, by developing a way to evaluate people with DM in their home environment. She is involved in several clinical trials and studies involving muscle diseases at the University of Rochester, involving DM2 and DM1. Click here to learn more about Dr. Hamel.

Lindsay Baker, PT

Lindsay Baker is a physical therapist who acts as a clinical evaluator for research within the neuromuscular department of the University of Rochester Medical Center. She participates in physician and physical therapist led research projects - including three studies specific to myotonic dystrophy.

Ms. Baker also works in the neuromuscular clinic where she assists with physical therapy consults and recommends exercise and assistive devices for individuals with myotonic dystrophy.

Originally presented on September 11th, 2021 as a part of the Professionals Track at the 2021 Virtual MDF Annual Conference.

Dr. Banez Coronel describes how RAN proteins accumulate in DM1 brains and discusses prospective implications for DM treatments. Dr. Disney will present on DM2 Research from his lab at Scripps.

Speakers include:

• Monica Banez Coronel, PhD
• Matthew Disney, PhD