First International Myotonic Dystrophy Awareness Day
Myotonic dystrophy (DM) is a devastating neuromuscular disorder and the most common cause of adult muscular dystrophy. It is one of the most complex genetic diseases which affects nearly every organ in the human body. Patients with this life limiting disorder suffer from muscle wasting, myotonia (inability to relax muscles), cognitive challenges, cataracts, as well as a host of other symptoms. Sadly, this disease doesn’t just affect adults, babies are often born with DM to families that aren’t aware they have the disorder. Because the disease is also difficult to diagnose, the discovery of a baby with DM frequently results in the realization that many extended family members are also affected by DM. Although it is getting better, for many families it can take years to get diagnosed and the lack of a cure for DM means that this diagnosis may not impact their quality of life.
Researchers in the RNA Institute are studying the basic mechanisms of the disease and using this information to develop therapeutic strategies to help the patients and families affected by myotonic dystrophy.
Learn more about the University at Albany Myotonic Dystrophy Center.