DUCHENNE MUSCULAR DYSTROPHY

By: Logan Gillings, Reyes E

Cause Of Disease

Is a genetic disorder that causes progressive muscle weakness as individual muscle cells die.

An absence of dystrophin, a protein that helps keep muscle cells intact.

Can be inherited

Mutation Type

The mutation type is Substitution. substitution is a Point mutation. A g is changed to a t.

Population Affected

It affects about 1 out of every 3,500 boys. (Girls can carry the gene that causes the disease, they usually have no symptoms.) This form occurs because of a problem with the gene that makes dystrophin. Without this protein the muscles break down and a child/teen becomes weaker.

Part of Body Affected Duchenne muscular dystrophy is the most

common and the most severe form of MD. In cases of Duchenne muscular dystrophy

symptoms usually begin to appear around age 5. The parts of the body affected are the pelvic muscles, shoulders, back, arms, and legs begin to weaken. Most kids with this form need to use a wheelchair by age 12.

Eventually the respiratory muscles are affected, and a ventilator is required to assist breathing. Kids who have Duchenne MD typically have a life span of about 20 years.

Symptoms The symptoms of

“DUCHENNE MUSCLAR DYSTROPHY”:

Generalized weakness Muscle wasting first affecting

the muscles of the hips, pelvic area, thighs and shoulders. Calves are often enlarged.

Treatments There is no known cure for Duchenne muscular

dystrophy. The treatment aims to control symptoms to maximize

quality of life. A therapy called Gene may become available in the

future. Activity is encouraged. Inactivity (such as bedrest, not

moving around, playing games, computers) can worsen the muscle disease.

Physical therapy may be helpful to maintain muscle strength and function.

Orthopedic appliances (such as braces and wheelchairs) may improve mobility and the ability to care for yourself.

Diagnosis When the doctor first suspects that a child has muscular dystrophy, a

doctor will do a physical exam. The doctors will take a family history, ask about any problems. Particularly those affecting the muscles that the child might be having.

Also to above the doctor may perform tests to determine what type of MD is involved, and to rule out other diseases that could cause the problem.

The tests might include a blood test to measure levels of serum, creatine, kinase, an enzyme that's released into the bloodstream when muscle fibers are deteriorating. Elevated levels indicate that something is causing muscle damage.

The doctor also may do a blood test to check the DNA for gene abnormalities, or a muscle biopsy to examine a muscle tissue sample for patterns of deterioration and abnormal levels of Dystrophin.

Dystrophin a protein that helps muscle cells keep their shape and length. Without dystrophin, the muscles break down.

Pictures Parts of body affected

References

http://www.genome.gov/19518854 http://kidshealth.org/parent/medical/bone

s/muscular_dystrophy.html http://www.mda.org/disease/DMD.html http://www.medicalnewstoday.com/article

s/50444.php http://www.ncbi.nlm.nih.gov/disease/DM

D.html http://angelgirltanddvrocksworld.com/intr

o.html http://www.yourgenesyourhealth.org/dm

d/whatisit.htm http://www.nlm.nih.gov/MEDLINEPLUS/

ency/article/000705.htm http://www.mda.org/publications/fa-dmdb

md-what.html