Researchers from the University of Costa Rica and the University of Glasgow teamed up to investigate the DNA mutation causing myotonic dystrophy type 1 (DM1). They found that polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients.
The University of Iowa has been awarded a grant by the National Institute of Neurological Disorders and Stroke (NINDS) to fund a 3-year longitudinal study of adults with a family history of DM1. Learn more about the study and how to participate in this article.
Ionis Pharmaceuticals is currently seeking trial participants to evaluate an experimental DM1 drug, IONIS-DMPKrx, that may help modify the disease rather than just treat the symptoms.
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.
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.