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.

Physicians and scientists will meet Jan. 21-22, 2011, in Columbus, Ohio, at an MDA-sponsored conference about cardiomyopathy in Duchenne muscular dystrophy

posted on January 18, 2011 - 4:06pm
Experts from around the world will gather Jan. 21-22, 2011, at an MDA-sponsored conference about the heart in Duchenne muscular dystrophy (DMD).

New guidelines for physicians seek to improve and standardize diagnosis, treatment and medical management of individuals with congenital muscular dystrophy

posted on January 5, 2011 - 3:17pm
Editor's note: This article was updated on Jan. 6, 2011, to include a direct, free link to the Journal of Child Neurology article about the CMD guidelines. A panel of 82 international experts — including several MDA grantees and clinic directors — has produced the first-ever care guidelines for the congenital muscular dystrophies (CMD), a group of genetic neuromuscular disorders that have their...
posted on January 1, 2011 - 2:20pm
QUEST Vol. 18, No. 1
From childhood science classes, you may remember the periodic table listing all the known chemical elements. You might also recall, in approximately the center of the table, the symbol “Fe” signifying the metal iron. Produced inside large stars in distant space, iron is the most common element on Earth. From earliest times, humans have used it in everything from paint pigments, cookware and tools...

People with certain genetic neuromuscular diseases are encouraged to donate blood samples for research; privacy and anonymity assured

posted on December 16, 2010 - 2:33pm
People with genetic neuromuscular diseases who want to “do something for science” now have a way to do so, although they’re unlikely to ever know the results of their good deed.

Originally titled in print: Peeking at 'the Cards You Were Dealt'

posted on October 1, 2010 - 4:30pm
QUEST Vol. 17, No. 4
James Lupski’s story has all the elements of a good sci-fi tale: a research scientist determined to uncover the cause of his own genetic disease, a friend and colleague who’s also an intrepid gene hunter, and a futuristic technology that not only pinpoints the molecular cause of the research scientist’s disease, but also opens the door to a new era of personalized medicine. But in this case, it’s...
posted on October 1, 2010 - 2:05pm
QUEST Vol. 17, No. 4
Imagine visiting your doctor and being advised to get a particular genetic test. Instead, you open your laptop and pull up a list of all 3 billion chemical “letters” that make up your full genome (the entire set of genes that comprise your DNA). Or, perhaps you have your genetic blueprint, or “genome sequence,” encoded in a chip on your health insurance card. Swipe it through a reader when you...
posted on July 1, 2010 - 5:35pm
QUEST Vol. 17, No. 3
Having a baby can be the most thrilling and rewarding experience of a woman’s life, yet it also can be fraught with fear and uncertainty. This is especially true for women with neuromuscular disease. This special report takes a look at the issues that arise for expectant mothers with muscle disease and finds that, with proper care and planning, these women are usually — although not always...