Two Research Teams Treat CMD Mice

Recently published findings from two independent groups have suggested possible treatment pathways for the merosin-deficient and integrin-deficient forms of congenital muscular dystrophy (CMD).

Doxycycline fights cell death and lessens disease severity in merosin-deficient mice

Connecting the Dots

Just a few years ago, almost nothing could be said to parents like those in “Families Left with Questions,” other than that their child had a congenital (present at or near birth) form of muscular dystrophy.

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?

Understanding Heel Cord Surgery

Tom Baker, 14, is the second child of Harold and JoAnn Baker of Dover, Ohio. When he was a small boy, the family noticed that he walked "funny," certainly not like their first child, Jessica, now 18, or their youngest, Lisa, 11.

Still, doctors weren't terribly concerned until the Bakers took Tom for his kindergarten physical. "The doctor noticed that he exhibited the Gowers' sign," JoAnn recalls, referring to the way children with leg muscle weakness use their arms to brace themselves when getting up from the floor.

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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