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.

Could MRI be better than muscle biopsy in measuring disease progression and therapy effectiveness in Duchenne muscular dystrophy?

posted on May 17, 2010 - 1:20pm
The use of magnetic resonance imaging (MRI) as an assessment tool in boys with Duchenne muscular dystrophy (DMD) is being studied by former MDA grantee Krista Vandenborne, through a $7.5 million grant from the National Institutes of Health (NIH). The goal of the study is to assess whether MRI technology can be used as a precise, noninvasive measure of muscle tissue, gauging both disease...

Much progress but mysteries remain

posted on April 1, 2010 - 2:42pm
QUEST Vol. 17, No. 2
Back in 1956, investigators at the National Institutes of Health described five members of a three-generation family, all of whom had experienced delayed motor development, with walking not achieved until age 4 or 5, and difficulty climbing stairs, running and changing from a back-lying to a sitting position.
posted on April 1, 2010 - 2:38pm
QUEST Vol. 17, No. 2
Genetic testing for CCD is not yet widely available outside research studies. Commercial testing that includes analysis of the entire RYR1 gene is available at: Prevention Genetics3700 Downwind DriveMarshfield, WI 54449(715) 387-0484www.preventiongenetics.comclinicaltesting@preventiongenetics.com The company requests that it be contacted only by health care providers, such as a personal physician.
posted on March 31, 2010 - 4:10pm
QUEST Vol. 17, No. 2
When Jared Earlenbaugh was 2 years old, he “wasn’t running around driving his parents nuts” the way his mother, Alexia Zuege, had expected. However, he was her first child, born when she was only 19, and she didn’t think too much about it. But as other children mastered walking, running and other motor skills, Jared developed a side-to-side waddle, never ran, could only get up from the floor by...
posted on March 31, 2010 - 2:27pm
QUEST Vol. 17, No. 2
Forty-one-year-old Sandy Doak remembers that she was never athletic, couldn’t do sit-ups, and always had trouble finishing physical tasks. But, she says, “I never really thought I had anything wrong. I just thought I was awkward. I knew I was weaker than others. That had pretty much lasted most of my life.” Sometimes she found herself the object of ridicule, which, while friendly, wasn’t...
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.”

An online survey aims to reduce the time it takes parents to get an accurate diagnosis for their children.

posted on January 21, 2010 - 2:57pm
There’s often quite a gap between the time when parents first have worries about their infant or child and when they finally learn the child has a neuromuscular disease. The National Task Force for the Early Identification of Childhood Neuromuscular Disorders is conducting a survey to learn more about parents' first concerns about their children and how they described those concerns to their...