Diagnosis and Genetics

A range of outcomes

posted on September 1, 2007 - 10:07am
QUEST Vol. 14, No. 5
When Patrick and Sarah Foye of Pine Brook, N.J., had their baby boy, Adam, in 2001, there was little reason to believe at first that anything was wrong. "Adam had a normal birth," Sarah says, but things didn't go as well as expected in the months that followed. Patrick is a physician specializing in rehabilitation, and Sarah is an occupational therapist, so they were quick to note that something...

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

posted on September 7, 2009 - 9:00pm

By identifying risk factors for autoimmune disease, researchers hope to predict and even prevent its onset

posted on November 1, 2003 - 12:55pm
Wendy Brown feels good, but she's worried it won't last. Two years ago, Brown felt herself losing strength. She had trouble lifting things and getting up from a seated position, and when she pushed herself, her muscles groaned in pain. Those problems came to a head in July...

The diagnostic process in neuromuscular disease involves following many clues and rounding up the usual -- and not so usual -- suspects

posted on May 1, 2003 - 9:39am
*Note: In the print edition of Quest, this article was titled "Rounding Up the Usual -- and Not So Usual -- Suspects." The scene is familiar to everyone who watches crime dramas. The safe has been opened, and the hotel guests' jewelry and other valuables are missing. What happened, and when, and who's responsible?
posted on March 31, 2010 - 1:54pm
QUEST Vol. 17, No. 2
“In my opinion, I’ve progressed a lot,” says 41-year-old Sandy Doak, who saw little progression of her central core disease until about five years ago, when she was in her mid-30s. “I didn’t have muscle spasms years ago, and I didn’t have these aches that I have. I’m a very active person, and I’ve been experiencing fatigue that I’ve never experienced.”

When DMD carriers have trouble of their own

posted on December 1, 1998 - 4:37pm
The reasoning is sound: A female has two X chromosomes to a male's one, so she has a built-in "backup" if anything should go wrong on either of her two Xs. She can be a "carrier" of an X-linked disease, because she can give a flawed X chromosome to her sons, who, having only one X, will likely develop an X-linked disorder. DMD is one of many X-linked diseases, such as two kinds of hemophilia...

Once incorrectly diagnosed and improperly treated, they're now among the most treatable neuromuscular disorders

posted on June 1, 2001 - 12:05pm
When Phillip Martin was a baby, most people — even doctors — didn't notice anything unusual about him, except perhaps that he was a little quiet compared to other babies. But as they watched him grow, Richard and Daina Martin of Kelseyville, Calif., began to sense their son might have a physical disability. Phillip couldn't hold his head up by himself until he was nearly 6 months old, Daina...

When their baby was born with overwhelming special needs, these parents became experts in nemaline myopathy

posted on January 31, 2000 - 5:00pm
Like many first-time parents, Doug and Tina Kurtz of Dayton, Ohio, immersed themselves in books on parenting in preparation for their new arrival. But when their son, Brent, was born with a rare muscle disorder, the Kurtzes found themselves abruptly plunged into a world where none of their parenting books could help.

Physicians and scientists will meet Jan. 21-22, 2011, in Columbus, Ohio, at an MDA-sponsored conference about cardiomyopathy in Duchenne muscular dystrophy

posted on January 18, 2011 - 4:06pm
Experts from around the world will gather Jan. 21-22, 2011, at an MDA-sponsored conference about the heart in Duchenne muscular dystrophy (DMD).

Researchers have developed a new, two-step process for screening newborn babies for Duchenne MD and possibly other muscular dystrophies

posted on March 2, 2012 - 9:37am
Update 5/21/12: A podcast on this topic is now available; see Podcast Explores Newborn Screening for DMD.