Disease Severity and Progression in Myotonic Dystrophy Type 2

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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.
Learn more about the 2023 MDF Annual Conference at www.myotonic.org/2023-mdf-ann...

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8 авг 2024

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@LeroyAvila-nj8ll 5 месяцев назад

I’m 61 years old and have had Beckers Myotonia Congenita,it’s autosomal recessive,both of my parents have to have the same mutated faulty chromosome,clcn1 gene 🧬,potassium triggers my myotonia,along with panic attacks! I’m getting much weaker at my age, and no one in my family on my mother or dads side of the family have ever had my condition,my dad when alive had an elite athletic variant!