It is a condition that affects one in 20,000 people and a genetic disorder that slowly attacks muscles leaving those who have it permanently disabled. But after a recent breakthrough discovery by researchers at the University of Rochester, those living with a common form of muscular dystrophy have new hope. Casey Bortnick has more.

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"You’re always tired. It may take three times the amount of effort that it takes a normal person to do things," said Adam Marrer of Rochester.

Marrer has facioscapulohumeral muscular dystrophy, a common form of muscular dystrophy. Since the age of 13, the muscles in Marrer's face, shoulders, arms and legs have slowly weakened, making even the simplest tasks difficult.

"It can only be frustrating because I grew up normal. And I used to be able to do these things," Marrer said.

Marrer's condition is caused by a genetic flaw. It is a defect scientists have been trying to zero in on for the last 18 years.

"For FSHD in particular it was difficult because we couldn't figure out exactly what gene was involved," said Dr. Rabi Tawil of the University of Rochester Medical Center.

Tawil and his research team studied DNA samples from volunteers like Marrer and their family members helping to narrow down the genetic defect to one specific gene. A dead gene that, for some reason, in people like Marrer, is turned on.

"Even very low levels of expression of that gene can cause problems with the muscle," Tawil said.

While more research is needed Tawil said doctors now have enough information to start working on a treatment.

"Once you have a target to know what's causing it now we can find a way to reverse that or stop it," said Marrer.

After years of slowly losing muscle function, Marrer has reason to hope he get can get some of it back.

"And that's probably looking very far forward but there is that possibility. I mean this is huge," said Marrer.

This research was funded, in part, by a $7.1 million grant from Richard Fields in 2007. The laboratory where most of the work was done in Rochester now bears Fields’ name.