Duchenne muscular dystrophy is a rare, genetic condition in which the muscles progressively weaken over time.
This is caused by the body’s inability to produce an essential protein named dystrophin and almost exclusively affects boys.
This process of muscle-wasting usually begins in the lower limbs before it progresses to the upper body and eventually, the heart and breathing muscles will become affected.
It is a life-limiting condition for which there is currently no cure.
WHAT IS DUCHENNE ?
INFORMATION FOR KIDS
The video below has been created to help educate young kids about Duchenne.
It may help friends of Conor and Dean and other children to understand what Duchenne is and how it may affect their ability to interact and to play.
MORE ABOUT DUCHENNE
In Europe and North America, the prevalence of DMD is approximately 6 per 100,000 individuals.
DMD was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the 1860s.
However, little was known about the cause of DMD until researchers in the 1980s identified a particular gene on the X chromosome – named dystrophin- that, when flawed (mutated), leads to DMD. Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged.
DMD symptom onset occurs in early childhood, usually between the ages of 3 and 5 years.
Early signs of Duchenne can include delayed ability to sit, stand, or walk. Muscle weakness usually begins in the hips, pelvic area, upper legs, and shoulders. The calves may be enlarged.
Children with DMD typically develop an unusual walk and may have difficulty running, climbing stairs, maintaining balance and raising the arms.
Boys will usually need a wheelchair by the age of about 8 to 11 years (sometimes a little earlier or later) with a power wheelchair generally required full time by the teenage years.
DMD is a fatal condition generally due to acute respiratory failure.
There is no cure for DMD, but medications and therapy can help manage some symptoms and potentially slow the course of the degeneration.
Until relatively recently, boys with DMD usually did not survive much beyond their teen years. Thanks to advances in cardiac and respiratory care, life expectancy is increasing and the current average is approximately 25 years.
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