Diagnosis and Genetics

This first of a series of three stories covering the 2014 MDA Clinical Conference discusses implications of new types of genetic testing

posted on March 28, 2014 - 10:57am
“Knowing, if not all, is almost all,” said Matthew Harms, a neurologist and neurophysiologist from Washington University in St. Louis, in his presentation on genetic testing for neuromuscular disorders at the 2014 MDA Clinical Conference, held in Chicago March 16-19.

After a year of planning, new recommendations for physicians caring for DMD patients have been released

posted on December 3, 2009 - 4:23pm
A comprehensive set of clinical care recommendations for the diagnosis and management of Duchenne muscular dystrophy (DMD) is now available to medical professionals and families. The complete recommendations,  in printable PDF format, can be read here:

Carol Forde's story

posted on October 1, 2009 - 3:15pm
QUEST Vol. 16, No. 4
“We think my grandmother was French Canadian, but she didn’t really talk about her history a lot,” says Carol Forde. “I don’t think the doctor knew what she died of. He said it was pneumonia, but she might have aspirated [inhaled food or liquids into the lungs]. It was a different time. We just accepted it.” 

M.D. with MD Receives MDA Personal Achievement Award

posted on October 1, 2009 - 11:55am
QUEST Vol. 16, No. 4
John Quinlan, of Lakeside Park, Ky., has two criteria for doing most things, says his wife, Laura Sams. “He asks, one, ‘Will it accomplish something?’ And two, ‘Will I have fun doing it?’ He does not allow himself to give less than full effort to anything.” Determination and drive have led Quinlan, director of the MDA Clinic at the University of Cincinnati (UC), to a great many accomplishments,...
posted on October 1, 2009 - 1:04am
QUEST Vol. 16, No. 4
Fast Facts OPMD is a form of muscular dystrophy in which symptoms usually first appear between the 30s and 60s, and primarily involve the muscles of the upper eyelids and the swallowing muscles. As these muscles weaken, patients have difficulty keeping their eyes open and find that food and liquids are increasingly hard to swallow. As OPMD progresses, it can weaken the muscles of the limbs,...

Chester Kahapea, once the jubilant face of Hawaii’s statehood, now adjusts to life with ALS

posted on September 7, 2009 - 9:00pm
 

A new assisted-reproduction strategy may prevent transmission of mitochondrial disease

posted on August 28, 2009 - 10:18am
Scentists at Oregon Health and Science University in Portland have developed an assisted-reproduction technique that has the potential to allow mothers with mitochondrial myopathies and other mitochondrial diseases to virtually eliminate the risk of passing on the disease to their children.

Individuals and families struggle to manage the periodic paralyses, a group of diseases that’s too often misunderstood by teachers, employers and even health professionals.

posted on July 1, 2009 - 3:09pm
QUEST Vol. 16, No. 3
People who know me know I lead an extremely active life,” says Linda Feld of Longwood, Fla. “People don’t see me as somebody on a scooter. I’m Linda, and I do all these things every day, and they know me for me. I tell people that periodic paralysis has become my friend. It’s along for the ride, but it’s not going to rule my life.”