genetic testing

Balancing parenthood and neuromuscular disease is not just possible — many dedicated moms and dads who live that reality every day say having kids is the best decision they've ever made

posted on July 7, 2014 - 9:23am
Matthew Martin and Amanda Hall have more than a few things in common. They’re roughly the same age — Martin is 28; Hall is 30. They both call the state of Texas home — Martin in Rowlett; Hall in Glenrose. Then there’s the fact that each lives with a neuromuscular disease — Martin was diagnosed with Duchenne muscular dystrophy (DMD) at the age of 8; Hall with...

This first of a series of three stories covering the 2014 MDA Clinical Conference discusses implications of new types of genetic testing

posted on March 28, 2014 - 10:57am
“Knowing, if not all, is almost all,” said Matthew Harms, a neurologist and neurophysiologist from Washington University in St. Louis, in his presentation on genetic testing for neuromuscular disorders at the 2014 MDA Clinical Conference, held in Chicago March 16-19.

Neurologist Katherine Mathews discusses cardiac, respiratory and other concerns for people with limb-girdle muscular dystrophy

posted on October 3, 2013 - 9:08am
Quest Vol. 20, No. 4
Neurologist Katherine Mathews Katherine Mathews, M.D., is a neurologist at the University of Iowa Hospitals & Clinics in Iowa City, where she co-directs the MDA clinic. She serves on MDA's Medical Advisory Committee. Below she discusses limb-girdle muscular dystrophy with MDA Medical and Science Editor Margaret Wahl.

A nurse and genetic counselor, Trout discusses the diagnostic process and how she helps families with education and support

posted on October 3, 2013 - 9:07am
Quest Vol. 20, No. 4
Nurse Christina Trout Christina Trout is an advanced practice nurse specializing in pediatric neuromuscular disorders and genetic nursing. She's been providing genetic counseling, as well as general education and care coordination, to families with neuromuscular disorders at the University of Iowa since 1993.
posted on October 3, 2013 - 9:05am
Quest Vol. 20, No. 4
In kindergarten, Mo Gerhardt played tee ball and soccer, and while his hand-eye coordination was excellent, his strength wasn’t. Matthew (“Mo”) Gerhardt of Bath, Mich., will be 36 years old this fall.

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.

A useful but unwieldy CMT classification system helps make sense of the many subtypes of the disease

posted on July 1, 2011 - 2:17pm
QUEST Vol. 18, No. 3
As recently as the early 1990s, many experts hoped that understanding just a few genes that influenced the development or maintenance of myelin or axons would explain all of Charcot-Marie-Tooth disease. It didn’t turn out to be that simple, however. Today, there are dozens of genes recognized that, when flawed, can cause CMT.

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...