Diagnosis and Genetics

A look at symptoms, diagnosis, treatments and current MDA-supported research into this complex autoimmune disorder

posted on June 15, 2015 - 1:01pm
In recognition of June being National Myasthenia Gravis Awareness Month, MDA is examining the disease from several perspectives. This article offers an overview of signs, symptoms, diagnosis and treatments for myasthenia gravis (MG), as well as information on drugs that people with MG should avoid.
posted on November 1, 2007 - 10:08am
QUEST Vol. 14, No. 6
The Spinal Muscular Atrophy Standard of Care Committee released a “consensus statement” on clinical care in spinal muscular atrophy (SMA), published in the August issue of the Journal of Child Neurology, that sets guidelines aimed at standardizing the management of this disease. See the entire document.

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...
posted on July 1, 2007 - 4:56pm
QUEST Vol. 14, No. 4
Our son is wonderful,” says K.M., a 42-year-old San Francisco area events manager and the mother of a 7-year-old boy with Duchenne muscular dystrophy. “I couldn’t ask for anything more. He’s everything I ever wanted. Of course I wouldn’t want this disease, but he’s just such a great, sweet kid, and it’s been our hope and dream to give him brothers or sisters.

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...
posted on May 1, 2003 - 9:43am
For Rob and Sharla Roozeboom, getting a new diagnosis helped in family planning. Sometimes the question facing people affected by a neuromuscular disease isn't "What kind of test should I have?" but "Should I have a test?"

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 October 1, 2002 - 1:24pm
When Erin Kiernan was 7, a teacher noticed that her walking seemed a little off balance and mentioned it to Erin's parents. "It was the way she would stand bent forward a little bit," says Erin's father, Pat. "We had noticed the same thing, but we kind of thought it was just us." With this confirmation that something might be wrong, they took Erin to the family pediatrician.