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.

Also called SBMA, it was unrecognized just 40 years ago. Now it's on a fast track toward treatment.

posted on June 3, 2002 - 4:52pm
After years of frustration and unanswered questions, Len Janicki submitted to a final lab test — a blood test that he hoped would explain why his 48-year-old body felt weak and exhausted. In high school, he'd been an athlete and an avid participant in almost every team sport imaginable. In college, he joined the Army Reserve, and later became company commander of a basic training unit.
posted on February 1, 2002 - 3:39pm
Wendy Salo's doctors told her she was suffering from stress — or perhaps chronic fatigue syndrome. But Salo knew there was something else going on. At the time, she was in her late 30s. Admittedly, she had reason to be tired and stressed. She had a full-time job developing software for banks, and she had a husband and two teen-age sons. But, to her way of thinking, those factors couldn't account...
posted on February 1, 2002 - 12:42pm
Sheila Smith of Brookhaven, Miss., can't get over the feeling that myotonic dystrophy is an unwelcome, and unexpected, intruder in her family. It started in November 1998, when her husband, Michael, then 33, had a car accident. "We feel that he fell asleep at the wheel," Sheila says.

Family histories help solve medical mysteries

posted on February 1, 2002 - 12:02pm
The year was 1992, and neurologist John Day had recently moved from the University of California at San Francisco to the University of Minnesota at Minneapolis, where he was to assume the directorship of the MDA clinic. (Day still holds this position, at what is now the Fairview-University Medical Center. He's also an associate professor of neurology at the university.) Earlier that year, a...
posted on December 1, 2001 - 12:52pm
Many neuromuscular diseases are genetic diseases, meaning they're caused by defective genes, and can be passed from one generation to the next. Understanding the facts about a genetic disease is important for family planning and for peace of mind. But it's a challenging task, made more difficult by common misconceptions about genetic diseases.

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...
posted on February 1, 2001 - 11:54am
One area that causes frequent misunderstanding is the phenomenon of germ line mosaicism. Here's a typical question (actually a composite of several queries to "Ask the Experts"): Five years ago, I gave birth to a child with Duchenne muscular dystrophy (DMD). At that time, they tested my blood cell DNA and said I didn't have the deletion in my dystrophin genes that causes DMD. My son, Danny,...