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.
As Matthew Brown listened to his cousin Emily describe the symptoms that led to doctors diagnosing her with having multiple sclerosis, he grew concerned. The problems she described—an inability to relax her hand, a freezing of her tongue that made it impossible to talk at times, and gastrointestinal issues—were the same ones he had been experiencing.
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.