Duchenne Muscular Dystrophy

In my "spare time" these days I've taken to reading Forbes magazine. My "spare time" is when I sit in my twins' bedroom and make sure that they stay in bed for nap time. This requires sitting for about 15 minutes without doing anything interesting to them, but having enough peripheral vision to make sure they're not escaping. Reading works well, but I need something I can put down once they're sleeping because that is prime time to "get stuff done" and if I've allowed myself to pick up a novel...well...stuff won't get done. Forbes is perfect. It is helping me gain some business sense and a better understanding of the economic/political/social influences of our culture, so it is interesting enough to hold my attention away from whatever delay tactics the twins are trying today, but is not so gripping as to keep me sitting there reading "just one more page."

Anyway, I was amused to read this article about a guy who invented guarana-flavored beef-jerky when his energy drink exploded in his lunch while he was skiing...amused until I read about one of his triplets who is affected by Duchenne muscular dystrophy. Multiples and special needs...I can relate. He says the experience taught him, "All the money in the world doesn't mean anything--and I need a lot more money..." Oh yes, I can relate.

Duchenne muscular dystrophy (DMD) is one of nine degenerative disorders known as muscular dystrophy. DMD is caused by an absence of dystrophin. Dystrophin is a protein responsible for maintaining muscle cells. Early in childhood (usually before age 6) muscle weakness and "wasting" begins. Voluntary muscles are most affected, but eventually the heart and breathing muscles will also be affected. Survival beyond age 30 is rare, and most individuals with DMD will require a wheelchair before age 12. DMD is an "inherited" disorder, meaning it has been traced to a recessive gene on the X chromosome. A mother may have one copy of her X chromosome that is mutated with the DMD gene (Xx) and unknowingly pass that gene on to a son (xY) or daughter (xX). DMD affects males more because they don't have a "healthy" X chromosome to take over dystrophin production, meanwhile the female can be a carrier and not know it for several generations. Some female carriers also exhibit mild symptoms and/or have associated heart disorders. DMD is treated by trying to keep the body flexible an mobile as long as possible.

• As muscles degenerate, tendons in joints shorten and the joints may become fixed (contracture)causing immobility and pain. To combat this, physical therapy is performed through range of motion exercises that maintain and extend flexibility. Braces may also be used to keep limbs stretched. Eventually surgery is required to release the tendons. Then braces are required to support the joint.
• The spine may be pulled into a curved shape from side to side (scoliosis) or forward (hunchback). Exercises are used to keep the back as straight as possible. Surgery to place metal rods is often performed in adolescence.
• Steroid medications (primarily prednisone) have been found to slow the progression of DMD. Due to the side-effects of these medications they may not be prescribed until a child has trouble walking.
• About one third of boys with DMD have some learning disability related to dystrophin function in the brain. [I note with interest a connection to another X-linked genetic condition known as Fragile X which causes cognitive delays.]

To learn more about DMD I recommend starting here. And if beef jerky is your thing, be on the lookout for Perky Jerky...coming soon to a store near you.