A new literature review suggests meta-analysis of cognitive studies in DM1 is both feasible and can inform understanding of disease mechanisms and patient management.
It would be easy to conclude that insulin resistance and diabetes in myotonic dystrophy is a product of mis-splicing of INSR transcripts—but is that the full story?
Toxic RNA-mediated mis-splicing and Repeat-Associated Non-AUG (RAN) translation proteins are impacted by free MBNL1 levels and contribute towards CNS pathogenesis in DM2.
To develop new therapies for patients living with myotonic dystrophy (DM), specific infrastructure and information needs to be in place to make clinical trials feasible. The information needed for CDM trials is likely to be different than that used for adult trials.
After a year of outreach and education, MDF has successfully convinced the Social Security Administration (SSA) to list congenital myotonic dystrophy (CDM) in its Compassionate Allowances program, significantly easing the application and review process.