Frequently asked questions
    1.  What is Myotonic Dystrophy? 
      • Myotonic dystrophy is a genetic condition that causes progressive muscle weakness and wasting. Myotonic dystrophy can affect muscles of movement and often affects the electrical conduction system of the heart, breathing and swallowing muscles, bowels, lens of the eye and brain.
    2. Are there different types of Myotonic Dystrophy?
      • Myotonic dystrophy (DM) includes two major types — DM1 and DM2 — both caused by genetic defects. They result in multisystem disorders characterized by skeletal muscle weakness and myotonia (difficulty relaxing muscles after use), cardiac abnormalities, cataracts, and other abnormalities.
    3. What causes Myotonic Dystrophy?
      • A gene mutation (change) within the DMPK gene on chromosome 19 causes myotonic dystrophy type 1. Myotonic dystrophy type 2 is caused by a gene change in a different gene called the CNBP gene which is found on chromosome 3. A blood test will usually confirm a diagnosis of myotonic dystrophy.
    4. How common is this diagnosis?
      • Frequency. Myotonic dystrophy affects at least 1 in 8,000 people worldwide. The prevalence of the two types of myotonic dystrophy varies among different geographic and ethnic populations. In most populations, type 1 appears to be more common than type 2.
    5. What is the life expectantcy of someone who has Myotonic Dystrophy?
      • Life expectancy can vary for people with myotonic dystrophy. Many have a normal life expectancy. People with the more severe congenital form present from birth, might die at a very young age. People whose symptoms begin as a child or teenager might have a shortened life expectancy.
    6. Is there a treatment for Myotonic Dystrophy?
      • As yet, there is not a specific treatment that “gets at the root” of type 1 or type 2 myotonic dystrophy (DM1, DM2). Treatment is aimed at managing symptoms and minimizing disability.
    7. Is there a cure for Myotonic Dystrophy?
      • There’s no cure for DM, but certain treatments and therapies can help manage symptoms and improve quality of life.
    8. Is any research or studies being done to find a cure?
      • Several clinical trials testing new therapies for DM1 are underway worldwide and at URMC. The URMC myotonic dystrophy clinical research program, which includes trials, the National Registry, and clinical projects of the Wellstone Center, is led by Johanna Hamel, MD.
    9. Where can I find help and support as a caregiver of a family member who has this diagnosis?
    10. What can I do to help those who have Myotonic Dystrophy?
      • Build a supportive, inclusive team of progessionals, family, and community together.
      • Do not set limits, let the individual affected show you their strengths.
      • Learn everything you can about DM, ongoing research, studies, and network with other families and individual affected by DM.