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.
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)
Cardiac pacemaker, defibrillator, metal implants, or other contraindications for MRI
Use of anabolic or catabolic agents within one year of entry
History of lumbar spine or leg surgery, lumbar radiculopathy, or peripheral neuropathy
BMI > 35 because obesity compromises positioning on the MR scanner