Researchers at the University of Rochester Medical Center have found a way to block the genetic flaw at the heart of a common form of muscular dystrophy.

The results of the study, which were published July 16 in the journal Science, could pave the way for new therapies that essentially reverse the symptoms of the disease.

"This study establishes a proof of concept that could be followed to develop a successful treatment for myotonic dystrophy," said neurologist Charles Thornton, M.D., the senior author of the study and co-director of the University of Rochester Medical Center's Wellstone Muscular Dystrophy Cooperative Research Center. "It also demonstrates the potential to reverse established symptoms of the disease after they have developed, as opposed to simply preventing them from getting worse."

Myotonic dystrophy is a degenerative disease characterized by progressive muscle wasting and weakness. People with myotonic dystrophy have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. The condition is particularly severe in the hand muscles and can cause a person's grip to lock making it difficult to perform rapid, repeated movements. Currently there is no medication to halt the progression of the disease.

"Deposits of toxic RNA (red) are seen here inside muscle cell nuclei (blue) from an individual with myotonic dystrophy. (Credit: Image courtesy of University of Rochester Medical Center)"

Source: University of Rochester Medical Center