DM2

3 Tips for Research Participants to Make Every Body Count

“Participating in a research study will help the greater good, and I’m hoping one may help me too,” says Caroline Easterling about why she participates in DM research. Read on for Caroline’s advice for participants.

Understanding the Genetic Causes of DM: Evaluation of the role of Other Gene Variants

Researchers in Europe have reported findings from a large cohort, where significant numbers of patients with DM-like symptoms do not have the known DMPK or CNBP repeat expansions. Considerable progress has been made in understanding the genetics and pathogenic mechanisms of DM. However, unknown factors (other mutations, modifier genes) very likely will be critical to models of disease onset and progression, as well as for development of impactful therapies. This latest report, valuable because of the large, carefully assessed cohort, suggests that MBNL1 variants, theoretically a potential cause of DM, exist but are rare and thus unlikely a major contributor to DM.

Myotonic is pleased to announce the following grant awards in partnership with the MyotonicUK, London, UK.

Myotonic and MyotonicUK announce the funding of two new research projects. The projects address critical gaps in research infrastructure and clinical trial readiness and will increase understanding of the progression of DM, and provide measures to evaluate disease progression and the efficacy of candidate therapeutics.

 

New Findings on Quality of Life in DM2

A new quality of life study found that some DM2 patients are impacted as severely as those with DM1. Read more on the findings here.

Multi-Disciplinary Approach Needed for Congenital and Childhood DM Care

The results of a new MDF-funded study on the impact of congenital myotonic dystrophy are now available from Dr. Nicholas Johnson of the University of Utah and colleagues. The high frequency of social and cognitive issues in their findings underline the need for a multi-disciplinary approach to care. 

The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study

Many common DM symptoms become more severe during pregnancy, and women with DM have higher than average miscarriage rates, according to a study commissioned by Myotonic that examined data from the Myotonic Dystrophy Family Registry and the National Registry for DM and FSHD. Read a summary of the findings written by Katharine Hagerman, PhD, Research Assistant at Stanford University.

Common Symptoms of DM2 and Their Impact on Daily Living

Researchers from the University of Rochester recently published a paper examining the symptoms and impact of myotonic dystrophy type 2 (DM2). They found that the most commonly reported symptoms of DM2 are not, in fact, the ones that have the highest reported impact on daily living.

Benefit/Risk Study Results: Focus on Muscle Weakness

The Myotonic Dystrophy Foundation partnered with Silicon Valley Research Group to develop a survey to better understand how people with DM weigh the benefits of new treatments again the risks. 

Caregiving Today: Stresses, Satisfactions, and a Need for Better Solutions

In honor of National Family Caregivers Month, and to celebrate the many critically important caregivers in the Myotonic community, we’ve taken a look at the status of caregiving today. 

Healthy Heart Information for American Heart Month

February is American Heart Month, and MDF has partnered with Drs. Katharine Hagerman and Marianne Goodwin to highlight important research on cardiac issues in myotonic dystrophy for our readers

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