Just some info on Duchenne

DUCHENNE MUSCULAR DYSTROPHY

Age of onset:	2 to 6 years
Inheritance / gender affected:	X-linked / males
Muscles first affected:	Pelvis, upper arms, upper legs
Progression:	Slow, sometimes with rapid spurts

DUCHENNE muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy. Early signs of Duchenne, which usually occur between the ages of 2 and 6,

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include frequent falling, difficulty getting up from a sitting or lying position, and a waddling gait. Another hallmark is the apparent enlargement of the calf and sometimes other muscles, which is really due to an accumulation of fat and connective tissue in the muscle. A blood sample shows a very high level of creatine kinase (CK), an enzyme that leaks out of damaged muscle.

In Duchenne muscular dystrophy, posture changes as the child grows.

Progression varies somewhat from child to child. The use of orthopedic devices and physical therapy can prolong the ability to walk. Frequently, however, a wheelchair will be needed by age 12.

Mild mental retardation has been noted in some (by no means all) boys with Duchenne dystrophy.

Breathing becomes affected during the later stages of Duchenne, leading to respiratory infections. These are often successfully treated with antibiotics and respiratory therapy. Severe respiratory and heart problems mark the disease's final stages, usually in the boy's teens or early 20s.

In 1986, MDA-funded researchers identified the gene that, when defective, is responsible for Duchenne muscular dystrophy. They discovered that the gene's failure to make a working version of the muscle protein dystrophin is the cause of the disease. Most boys with Duchenne have little or no dystrophin in their muscles.

Further research has shown that dystrophin is attached to other proteins at the edge of muscle fibers and that it probably helps anchor the fibers to connective tissue surrounding them.

*This was taken from the MDA website.