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.

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

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 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.

Click here to learn more about the 2023 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 DM1 & DM2 Tracks at the 2021 Virtual MDF Annual Conference.

A panel of experts will explain what a clinical trial is, what it takes to develop a trial, which trials are currently enrolling, and how members of the DM community can participate to advance research. 

Speakers include:

• Jodie Howell, LPN
• Nicholas Johnson, MD, MSCI, FAAN
• Alissa Peters
• Christy Newman

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

Myotonic dystrophy type 2 (DM2) is a complex disease caused by a rare genetic mutation which can affect many systems of the body, producing symptoms that can vary in type and degree from person to person. Learn about the broad range of basic science, clinical studies, and other research approaches that are currently being explored to reduce the burden of DM2 for individuals and families.

Presented by Laura Ranum, 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

Presented during Myotonic's Friday Afternoon Webinar Series.

This webinar presents an overview of multi-systemic aspects in DM2, including an update on cognitive deficits, CNS imaging techniques, coping with COVID-19 and DM2, and a research update emphasizing molecular mechanisms which could assist in better prognosis of DM2.

About the Presenter:

Giovanni Meola, MD
Università degli Studi di Milano

Dr. Meola is a clinician who has been interested in the field of neuromuscular disorders since 1975. In particular he is an expert in the diagnosis and management of myotonic dystrophies and non-dystrophic myotonias. He is the chairman of the neuromuscular center at IRCCS Policlinico San Donato, the national referral center for myotonic dystrophies and in particular for DM2. As a researcher, he developed the diagnosis of DM2 on muscle biopsy by FISH and on muscle channelopathies by specific clinical and genetic protocols. He has been the keynote lecturer and chairman at several international meetings, including IDMC.

Dr. Jacinda Sampson, joined by Dr. Ian Bowler, presents on the complications experienced by people living with myotonic dystrophy when they are subjected to anesthesia and, as importantly, other pain medications that can create similar complications and risks. This is critically important information for every DM family member and attending clinician to know. From the 2017 MDF Annual Conference.