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?

All Fall Down

Some people have nightmares about falling off cliffs. Brad Williams has nightmares about falling — period.

“Whenever I’m walking, falling down is always the major thought on my mind,” says Williams, 39, of Alexandria, Va. “It has to be on my mind a lot for me to be dreaming about it.”

Williams has Miyoshi distal myopathy, a slowly progressive form of muscular dystrophy that primarily affects the extremities. He hosts an MDA Internet chat under the nickname “dysf,” and notes that other chat participants also have reported falling nightmares.

Wendy Salo: Making Medical History in Minnesota

Wendy Salo's doctors told her she was suffering from stress — or perhaps chronic fatigue syndrome. But Salo knew there was something else going on.

At the time, she was in her late 30s. Admittedly, she had reason to be tired and stressed. She had a full-time job developing software for banks, and she had a husband and two teen-age sons.

But, to her way of thinking, those factors couldn't account for her nearly falling asleep at the wheel during the 15-minute drive between work and home, or being unable to climb the stairs to her office after her lunch break.

Michael and Sheila Smith: Getting by in Mississippi

Sheila Smith of Brookhaven, Miss., can't get over the feeling that myotonic dystrophy is an unwelcome, and unexpected, intruder in her family.

It started in November 1998, when her husband, Michael, then 33, had a car accident. "We feel that he fell asleep at the wheel," Sheila says.

People with Myotonic Dystrophy Spur Research Advances

The year was 1992, and neurologist John Day had recently moved from the University of California at San Francisco to the University of Minnesota at Minneapolis, where he was to assume the directorship of the MDA clinic. (Day still holds this position, at what is now the Fairview-University Medical Center. He's also an associate professor of neurology at the university.)

Earlier that year, a genetic defect underlying myotonic muscular dystrophy (MMD) had been identified by MDA-supported researchers, and a genetic test for it had just been made available.

The Heart Is a Muscle, Too: Part Two

Part 1 of this series(Quest, Vol. 6, No. 2) addressed cardiomyopathy, the degeneration of heart muscle that often occurs in many neuromuscular diseases.

The Heart Is a Muscle, Too: Part One

Cardiac problems are common in several neuromuscular disorders. They can be quite serious, particularly in Duchenne and Becker muscular dystrophy (DMD and BMD). In this, the first of a two-part series, we'll explore cardiomyopathy, the type of heart problem that's found most often in DMD and BMD and also occurs in some other neuromuscular conditions. (Read Part 2 of this series.)

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