If you're reading this guide, your child has probably already received a diagnosis of DMD. Still, it's natural to wonder, could there be some mistake? Could this really be some other, less serious or more treatable, condition?
In the past (before the late 1980s), such concerns might have been justified, although even then, DMD was pretty easy for an experienced neurologist to recognize and separate from other conditions.
Nowadays, DMD is fairly easy to diagnose, based on history and physical exam, and on laboratory analysis of blood (for the presence of certain enzymes that indicate muscle is being destroyed), blood cells (for abnormalities in the gene known to be defective in these conditions), and muscle itself (for evidence of muscle abnormalities -- most of all, for a lack of the muscle protein known as dystrophin).
If the doctor has told you that your son has a mutation in his dystrophin gene and that the muscle biopsy shows very little or no dystrophin in the muscle, then there is almost no doubt about the diagnosis.
It's never easy to be told that your child has a serious disease, but we at MDA are here for you with local support, medical services and a comprehensive research program seeking treatments for this disorder.
Two of the obvious symptoms of DMD are enlarged calves and a waddling gait.
Young boys with DMD use the Gowers' maneuver to rise from the floor.
As a boy with DMD gets older, his spine curves inward.
By the time he's about 12, he'll need a wheelchair at least part of the time.
Next... What to Expect in DMD  |
