Development of Quantitative Muscle Imaging as a Biomarker of Disease Endpoints in Myotonic Dystrophy (DeQoDE-DM)
Myotonic dystrophy (dystrophia myotonica; DM), the most prevalent form of muscular dystrophy in adults, is characterized by progressive myopathy, myotonia, and multi-systemic involvement. DM causes severe disability and profoundly affects the patient's quality of life. Currently, no effective treatments are available that alter the course of the disease, but ongoing clinical trials are underway.
⁃ DM subjects
• Age 18 - 65 years
• Diagnosis of DM1 or DM2 by clinical or genetic criteria. If DM1 or DM2 was diagnosed by clinical criteria, a first-degree relative must have genetic testing confirmation and sign a genetic consent form to release their genetic information
• Clinically affected, as defined by muscle weakness or myotonia
• Ambulate independently (a walker is not permitted)
• Able to provide informed consent for participation in the study
⁃ Control subjects
• Age 18 - 65 years old
• Healthy as defined by no significant medical or neurological conditions
• Able to provide informed consent for participation in the study