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.

Longtime MDA research grantee Jerry Mendell discusses his group's development of a feasible strategy for screening newborn babies for Duchenne MD

posted on May 1, 2012 - 4:39pm
An April 2012 podcast from Nationwide Children's Hospital in Columbus, Ohio, explores the implications of a recently developed strategy for newborn screening for Duchenne muscular dystrophy (DMD). The podcast is part of a Nationwide Children's series called "This Month in Muscular Dystrophy."

A challenging and multifaceted disease

posted on April 9, 2012 - 12:05pm
QUEST Vol. 19, No. 2
As far back as Carla Licon can remember, her mother had difficulty opening jars and walking long distances. Licon’s mother wore ankle braces, and she also had an unusual symptom known as "myotonia," the inability to relax muscles, such as a clenched hand, at will. Licon, who is 31 and lives in Victoria, Texas, thinks these symptoms started when her mother was in her 20s. Later, her mother’s...

In this first of several reports on MDA's Clinical Conference, the role of genetics and immunology in different neuromuscular diseases is described

posted on March 19, 2012 - 3:08pm
More than 500 physicians, allied health care professionals and MDA staff attended the MDA's 2012 Clinical Conference in Las Vegas, March 4-7. The program emphasized:

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.

Knowing your exact genetic diagnosis does more than just satisfy your curiosity — it can impact family planning, disease management and participation in clinical trials

posted on February 28, 2012 - 2:02pm
Respondents to MDA’s Transitions Survey — in other words, people with a neuromuscular disease who are in their teens through late 30s — made it clear they had questions about the genetics of their disease, as well as questions about family planning and the value of diagnostic testing. MDA’s Genetic Counseling Webinar, which occurred Feb. 22, 2012, answers many of those questions.
posted on July 1, 2011 - 10:57am
QUEST Vol. 18, No. 3
Letters to Quest: Choosing to have a child * Diagnosis explains past symptoms * CMT exercise warm-up tip * Mike Murphy articles inspire

Can love, courage and modern medical technology prevent muscular dystrophy from being passed on to the next generation?

posted on March 31, 2011 - 12:01pm
QUEST Vol. 18, No. 2
It was the worst Monday morning of our lives — and Mondays are universally bad. My wife, Monique, and I woke up to a snow lockdown in London. The snow had started gently enough in the evening, but now on this January morning it was a white strait jacket. We could hardly move, but we desperately needed to get to Nottingham at all costs. Our potential future children — two fertilized...