DMD, BMD: Trial of Ataluren in Nonwalkers

Update (March 3, 2010): An update to the article Ataluren Results Disappointing was posted.

Scientists Continue to Explore Stem Cells

Stem cells — immature cells with the potential to develop into different tissue types — have been heralded as a major advance for developing treatments for a variety of diseases. That’s true for diseases of the nerves and muscles, where such cells could potentially be transplanted into the body and either support or replace a patient’s ailing cells.

Plugs and Patches Improve Muscle Health

Much attention has been paid to gene therapy and stem cell strategies for treating muscle diseases, but several less dramatic strategies also appear to hold potential, especially if used in conjunction with more definitive therapies to enhance their effectiveness.

Research Administration Winter 2009

Updated MD-CARE Act is now law

The Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education (MD-CARE) Amendments of 2008 received final Congressional approval on Sept. 27 and were signed into law by President Bush Oct. 8.

Drug Development Progress: How Are They Doing?

In the era of molecular biology, the drug development process has moved from a “let’s try it and see what happens” approach to a scientifically based process of discovery and application.

For many of the diseases in MDA’s program, drug discovery begins with gene discovery — identifying a gene that, when flawed, causes a disease.

Moving Away from the Blasts of the Past

In the early 1990s, amid great excitement, six trials took place of transplants of immature muscle cells from healthy relatives into boys with Duchenne muscular dystrophy. (Five were funded by MDA.)

Debatable Destinies

When Rena Szymanski turned 40, she expected to slow down a bit. She never had been athletic, and it sometimes seemed to her that climbing stairs was harder for her than it was for other people, but she thought her strength was “normal” in general.

Soon after her birthday, though, she noticed increasing weakness. “I didn’t know what was wrong with me,” says Szymanski, who until recently was working at a stressful job an hour away from her home in Stony Point, N.Y. To her knowledge, there is no history of muscle disease in her family.

To Register or Not to Register

It seems as if everybody wants information about you these days. Try to get that rebate the salesman promised on your new computer, and the company wants to know how old you are, how much money you make and whether you went to college.

Phone surveys want to know what you think of your congressional representative, whether you’re planning to sell your house and what radio stations you listen to.

The Pros & Cons of Genetic Testing

The Roozebooms
For Rob and Sharla Roozeboom, getting a
new diagnosis helped in family planning.

Getting a Correct Diagnosis in Neuromuscular Disease

*Note: In the print edition of Quest, this article was titled "Rounding Up the Usual -- and Not So Usual -- Suspects."

The scene is familiar to everyone who watches crime dramas. The safe has been opened, and the hotel guests' jewelry and other valuables are missing. What happened, and when, and who's responsible?

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