Duchenne Muscular Dystrophy is a genetic disorder that involves rapidly worsening muscle weakness. It is a recessive x-linked (passes mother to son) form of muscular dystrophy. It results in muscle degeneration, difficulty walking, breathing and ultimately death. The disorder is formed by a mutation in the dystrophin gene, causing the body to be unable to produce the protein.
of all cases of Duchenne are the result of a spontaneous mutation, which means this could happen to anyone.
Symptoms usually appear in male children by age 5. Progressive muscle weakness is first observed in the legs and pelvis, eventually leading to the arms, neck and other areas. By age 10, braces may be required to aid walking and by 12 years usually wheelchair dependent.
- Pseudohypertrophy (enlargement of calf and deltoid muscles)
- Low endurance
- Difficulty with stairs, getting up from the floor, running and standing unaided at times.
- As the disease progresses muscle is turned into fat or fibrosis.
Later symptoms can include scoliosis and eventual paralysis. Intellectual impairment may be involved but does not progress with time.
The landscape for this disease is changing. Research and science is advancing. Donations generated by Michael’s Cause will be directed towards research in the hope of making Michael’s years with us and the lives of thousands afflicted with this horrific disease manageable. We strive to generate additional opportunities for researchers in their crusade to minimize the ravages of this disease on the life of little boys and ultimately find a cure.
There is an old Latin expression, which loosely translated states: “Be patient and kind, for someday this pain will be useful to you.” And so it has been as the fight for Michael continues.