Myotonic Dystrophy Clinic

Our center has focused on Muscular Dystrophy (DM) research and care for over 30 years, striving to find therapies for DM. In our Myotonic Dystrophy clinic, anyone interested in being evaluated for myotonic dystrophy or who has already been diagnosed with the condition is welcome. Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are rare disorders and thus not well known to many care providers or specialists. Due to the variable effects on multiple organ systems, a care team often includes many specialists, e.g., a cardiologist, a sleep specialist, and a pulmonologist. Here at UR, we understand our role as a DM primary care provider, helping our patients prioritize symptoms and care and providing guidance on what specialty care is needed. In addition, together with our physical therapy experts, we evaluate mobility issues and discuss interventions to maximize strength and function. Furthermore, we discuss symptomatic relief using available medications. To better track how symptoms change over time, we collect objective measures in the clinic, e.g., through timed tests. Lastly, we provide our patients with information on ongoing research, clinical trials, and advances in drug development.

What to Expect

• Evaluation by a DM expert clinician, the clinician may supervise a neuromuscular fellow or nurse practitioner: one of our missions is to train the next generation of providers delivering care for people with DM
• Evaluation by a physical therapy expert
• As appropriate, completion of surveys and timed assessments to track changes in symptoms over time
• Meeting with a genetic counselor
• Updates on research and the drug development process
• Nurses are available in the clinic to draw blood if needed