Duchenne Muscular Dystrophy

What is it?

Duchenne’s muscular dystrophy (DMD) is the degradation of skeletal muscle due to the incomplete expression of dystrophin.  Dystrophin is an important protein in maintaining muscle integrity.  Lack of dystrophin causes the membranes of muscle fibers to destabilize because they are not able to attach to the cytoskeleton (the support system) of the cell.  Those who carry the disease may also express learning abilities throughout life, breathing and heart difficulties, and mental retardation.

How do you get it?

DMD is an X-linked recessive inherited disease that can only be passed down from mothers who are carriers.  Because of its X-linked recessive nature it is generally not found in women and men who carry the allele are always affected.  It occurs in 1 out of every 3500-3600 males.

Prognosis?

So far there is no cure for DMD.  The ability to walk is often lost by the age of 12.  Breathing and Heart difficulties begin by the age of 20.  Typically affected persons don’t live out their 20’s.

Treatment?

•           Steroids are often used in an attempt to slow the loss of muscle strength
•           Physical Therapy
•           Braces, wheelchairs
•          Other drugs to help heart and lungs function
•          Support Groups