Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately 1 in every 3,500 live male births (about 20,000 new cases each year worldwide). Because the Duchenne gene is found on the X-chromosome, it primarily affects boys; however, it occurs across all races and cultures.
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Duchenne results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin inside muscle cells. Because the dystrophin protein is absent, the muscle cells are easily damaged and are slowly killed by the bodies immune system since they are seen as inflamation. The progressive muscle weakness leads to serious medical problems, particularly issues relating to the heart and lungs. However this disease affects ALL muscles of the body. Young men with Duchenne typically live into their twenties.
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Duchenne can be passed from parent to child, but approximately 35% of cases occur because of a random spontaneous mutation. In other words, it can affect anyone. Although there are medical treatments that may help slow its progression, there is currently no cure for Duchenne.
Stages of Duchenne
Every person with Duchenne progresses at different rates. However, the following stages are present in every male with the disease. Some children may also experience developmental delays, ADHD or other cognitive disorders due to the lack of dystrophin in the brain.
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Stage 1 - Ages 2 thru 7
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Moving slower or with more difficulty than other children his age.
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Delays in early developmental milestones such as sitting, walking, and/or talking
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Clumsiness or difficulty climbing, jumping, or running.
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Frequent falls
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Easily tired, low energy
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May need the use of a stroller for longer distances.
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Some muscles (in particular the calves) may appear large or overdeveloped. This happens because muscle cells are being replaced by scar tissue.
Stage 2 - Ages 6 thru 9
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Difficulty walking as his quadriceps (muscles in the front of the thighs) grow weaker. This may cause him to be off-balance as he shifts his weight while walking.
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Fatigue
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Walking on tiptoes
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Trunk weakness
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Use of gower maneuver to stand
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Sway back (throwing back shoulders and sticking out belly for balance)
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Possible heart scarring requiring medication
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Difficulty carrying their books, backpacks etc
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Use of a stroller or wheelchair for distances
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Stage 3 - Ages 10 thru 14
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Use of a powerchair due to decreased arm strength
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Assistance standing etc
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Inability to sit on the floor
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Fatigue
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Scoliosis
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Muscle cramps
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Stage 4 - Ages 15 and older
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Various heart conditions and weakness
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Congestive heart failure
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Shortness of breath
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Fluid in lungs
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Swelling of lower extremities
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Trouble swallowing
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Weight loss
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Quadriplegic state
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Death from various complications
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