Genetics and Disease Overview

Disease Severity and Progression in Myotonic Dystrophy Type 2

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.

DM1 Disease Development & Symptom Management - 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.

Repeat Instability & Stabilization

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

DM2: Disease Development, Symptoms, & Management

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

DM1: Disease Development, Symptoms, & Management

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.

How Common is Myotonic Dystrophy in the United States? Findings from the Recent Prevalence Study

 

Presented during Myotonic's Friday Afternoon Webinar Series.

This presentation will discuss the outcome of the recent study exploring the prevalence of myotonic dystrophy type 1 in the United States. We will discuss the study, the first of its kind focused on myotonic dystrophy, including how common we now believe the disease to be in the general population, how that number as determined, implications for ongoing testing for DM1 in the general population, and what it may mean for helping advance DM1 treatment and drug development.

About the Presenter: Dr. Nicholas Johnson treats adults and children with both common and rare neuromuscular conditions, yet his work doesn’t end in the clinic. He dedicates significant time each week to laboratory research, and is part of a team at VCU Health working to advance the treatment of genetic muscle disorders, with a special emphasis on muscular dystrophies. Dr. Johnson is board-certified in neurology, neuromuscular medicine and neuromuscular pathology by the American Academy of Neurology, and serves on its government relations committee.

DM and the Brain (2016 MDF Annual Conference)

Drs. John Day, M.D., Ph.D, of Stanford University, Chad Heatwole, M.D., of the University of Rochester and Giovanni Meola, M.D., of the University of Milan present an overview of DM-related disease impacts and symptoms, and the current status of brain-related DM research – at the 2016 MDF Annual Conference.