Hi Guys,
A friend of mine's little boy, Cameron, was recently diagnosed with Duchenne Muscular Dystrophy back in May this year. He will be 4 in a few weeks time.
Duchenne muscular dystrophy is caused by an X-linked gene (that is, the gene is on the X chromosome; girls have two of these and boys only one). This means that mainly only boys are affected but that their mothers may be carriers. Actually in almost half of all affected boys nowadays it turns out that the faulty gene has arisen by a change in the gene or ‘mutation’ in the boy himself and no other member of the family carries it
Symptoms usually appear in male children before age 6 and may be visible in early infancy. Progressive proximal muscle weakness of the legs and pelvis associated with a loss of muscle mass is observed first. Eventually this weakness spreads to the arms, neck, and other areas. Early signs may include pseudohypertrophy (enlargement of calf muscles), low endurance, and difficulties in standing unaided or inability to ascend staircases.
As the condition progresses, muscle tissue experiences wasting and is eventually replaced by fat and fibrotic tissue (fibrosis). By age 10, braces may be required to aide in walking but most patients are wheelchair dependent by age 12. Later symptoms may include abnormal bone development that lead to skeletal deformities, including curvature of the spine.
Due to progressive deterioration of muscle, loss of movement occurs eventually leading to paralysis. Intellectual impairment may or may not be present but if present, does not progressively worsen as the child ages. The average life expectancy for patients afflicted with DMD varies from early teens to age mid 30s.
I'm competing in the Survival of the Fittest race this Sunday in Edinburgh. (http://www.mhsurvival.co.uk/page34.asp) and Duchenne Muscular Dystrophy and Action Duchenne is my chosen charity.
I'm sure Cameron and his Mum Sheryl would appreciate you all logging on to my web page and donating what ever you can. It's a great cause.
Thanks
Bryan
