Myotonic muscular dystrophy (DM) is the most common muscular dystrophy in adults. There is no reliable clinical or molecular biomarker that predicts the progression or severity of type 2 DM, or that can be used to monitor response to the therapeutic treatments that are in development.
This project hypothesizes that RNA that is released in urine serves as a molecular disease biomarker that can be used to diagnose type 2 DM and establish a correlation between the RNA profile and the progression and severity of type 2 DM.
This research is funded by the Muscle Study Group and the American Brain Foundation, in collaboration with the American Academy of Neurology. Dr. Gonzalez-Perez is an Instructor in Neurology at Massachusetts General Hospital.