DUCHENNE MUSCULAR

DYSTROPHY Michele Munkhaugen and Michelle

Mendoza

3rd period

GENETICS OF THE DISEASE Sex-linked- carried on the x

chromosome Caused by mutations specially deletions

and some duplications The mutations are called

dystrophinopathies.

SYMPTOMS OF THE DISEASE Fatigue Mental retardation ( possible) Muscle weakness and deformities

a. beings in the legs and pelvis but also occurs less severely in the arms neck and other areas of the bodyb. difficulty with motor skills c. rapidly worsening weaknessd. abnormal heart muscle

Ability to walk my be lost at age twelve Early death normally early 20s

Electro cardio gram of patient with Duchene muscular dystrophy

Normal electro cardio gram

WHERE CAN IT BE FOUND This disease can be found on the Xp21

chromosome. It is the largest gene identified in

humans The defective gene is located on the

chromosome that is responsible for the production of dystrophin, which helps in normal muscle function

HOW IS THE DISEASE TREATED/PREVENTED There is no known cure for Duchenne

muscular dystrophy. Treatment aims to control symptoms to maximize quality of life.

Activity is encouraged such as physical therapy and orthopedic appliances. Wheelchairs may improve mobility.

Prevention- genetic counseling is advised if there is a family history of the disorder. You can use genetic studies during pregnancy to see if your baby has the disease.

FAMOUS PEOPLE Greg Smith is “America’s Strength

Coach” Mattie J.T. Stepanek he was a three

term national ambassador for the Muscular Dystrophy Association

HISTORY Duchenne muscular dystrophy was first

described by the French neurologist Guillaume Benjamin Amand Duchenne in the 1860s.

BIBLIOGRAPHY http://www.mda.org/publications/fa-dmd

bmd-what.html http://www.uptodate.com/contents/searc

h?source=USER_PREF&search=duchenne&searchType

www.mattieonline.com www.americasstrengthcoach-worldpress

.com

The Ferrel family