Dr. Melissa Dixon at the University of Utah Department of Pediatrics is conducting a study to learn more about how congenital myotonic dystrophy (CDM) and childhood-onset myotonic dystrophy affect thinking, memory, attention, brain function, and how these processes change over time.
Speech disorders (dysarthria) in CDM and childhood-onset DM1 have long been recognized and surveillance by speech and language therapists is an important aspect of patient care. Facial weakness and myotonia, and involvement of oral cavity, palatopharyngeal and respiratory muscles, are known to contribute to speech impairment.
After a new review of the literature, the question of comorbidity of childhood DM1 and autism spectrum remains an open one.
Discovery of the holy grail for DM therapy development-- drug registration endpoints -- lies in the dogged pursuit and sharing of natural history data.
A new study examines the role of the GSK3β—cyclin D3—CUGBP1 pathway in the pathogenesis of DM1 and its potential as a therapeutic target.