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06/30/2016 - 10:13am

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.

06/30/2016 - 10:06am

MDF and Wyck jointly 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.

 

06/07/2016 - 2:24pm

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.

02/11/2016 - 11:44am

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. 

02/11/2016 - 11:39am

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 MDF 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.

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