michele munkhaugen and michelle mendoza 3 rd period
TRANSCRIPT
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