Carnitine Deficiency - CD

Stanford University is collecting samples of blood, muscle and other tissues from people with neuromuscular disorders for use in research

posted on January 7, 2015 - 12:06pm
Ever wondered how someone with a neuromuscular disorder in his or her family might contribute to research efforts in this field?

This second of a series of three stories covering the 2014 MDA Clinical Conference discusses pain in neuromuscular disorders

posted on April 4, 2014 - 9:52am
The 2014 MDA Clinical Conference, held in Chicago March 16-19, was attended by some 500 people, mostly physicians and other health care professionals.

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.

The rapid pace of research, unprecedented number of treatments in clinical trials and opportunities to share ideas across diseases made for an exciting 2013 MDA Scientific Conference

posted on April 25, 2013 - 4:51pm
Turning neuromuscular disease research into treatments as quickly and effectively as possible was the overarching theme of dozens of formal presentations, nearly 200 scientific posters, and countless informal conversations at the MDA Scientific Conference, April 21-24. A palpable sense of excitement pervaded the sold-out event thanks to the unprecedented number of experimental treatments in...

EPI-743, an experimental compound that helps mitochondria generate energy, is being tested in mitochondrial and metabolic disorders; a trial in Friedreich's ataxia is planned

posted on November 16, 2012 - 5:00am
Update (Jan. 7, 2014): The trial of EPI-743 in Leigh syndrome is no longer accepting new participants.

Research items about Friedreich's ataxia, myasthenia gravis, mitochondrial myopathies, type 1 myotonic dystrophy, gene therapy and gene modification

posted on July 7, 2011 - 10:28am
Edison drugs target FA, mitochondrial diseases

Some consensus, much controversy about diet in three metabolic diseases

posted on November 1, 2007 - 2:09pm
QUEST Vol. 14, No. 6
Mark Tarnopolsky, a professor of pediatrics and medicine at McMaster University in Hamilton, Ontario, remembers clearly a patient he saw more than a decade ago, when he first began specializing in metabolism and nutrition. The patient was an 8-year-old boy who had rapidly become weak and eventually almost completely paralyzed after exercising. His muscles were breaking down, spilling a protein...
posted on May 1, 2003 - 9:43am
For Rob and Sharla Roozeboom, getting a new diagnosis helped in family planning. Sometimes the question facing people affected by a neuromuscular disease isn't "What kind of test should I have?" but "Should I have a test?"