Transcript Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy
Erin Kim
What is Duchenne Muscular Dystrophy?
• Duchenne Muscular Dystrophy
(DMD) is a type of muscular
dystrophy is a recessive genetic
disorder causing the fast
deterioration of muscles.
Symptoms
• symptoms usually start to
become visible to the
naked eye from infancy to
around five years old.
• When they do start to
walk, they walk in a weird
way, only walking on the
balls of their feet
• This is because they have
increased calf muscles.
However this muscle is
very soon replaced by
fatty tissue.
DATA: DMD
DATA: IQ
• Another symptom of
DMD is a slight
mental retardation
such as dyslexia, or
learning disabilities.
Inheritance
• The Dystrophin gene is a gene located on the X
chromosome (sex-linked disease)
• Females are rarely affected (X- inactivation)
• 30% of dystrophin mutations occur spontaneously
Tests
electromyopathy test
• electromyopathy test – insertion
of needle, recording of
electricity. (When muscles
contract and release, there is
usually an electric current
flowing through the tissue)
• “Serum Creatine Kinase Test”
looks for a build up of kinase in
the bloodstream
• muscle biopsy- Here a piece of
muscle is removed and
examined. If the cells are big and
filled with fatty tissue then that
means that person has DMD
Primary Cause/ Life Span
• DMD is caused by the
lack of Dystrophin, (a
protein) in the cell
membrane of muscles
• People with DMD
usually die by 20
years of age because
their heart and
diaphragm have
deteriorated.
Cure? Support groups?
• Currently there is no cure for DMD, but many
studies are being done to try and find cures.
• Many DMD patients go to physical therapy to
keep their muscles in the best condition they
can
• The Muscular Dystrophy Association (MDA) is
a large support group that helps people with
muscular disorders
Bibliography
•
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"Cure Duchenne Muscular Dystrophy PSA Video." Meo News. N.p., n.d. Web. 9 Mar. 2011.
<http://www.meonews.com/cure-duchenne-muscular-dystrophy-psa-video>. "DMD." Parent Project. Parent Project Muscular Dystrophy, n.d. Web.
9 Mar. 2011. <www.parentprojectmd.org.np/Contents/Main/DMD_Details.html>.
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rne. "eMJA: Duchenne muscular dystrophy:
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<http://www.mja.com.au/public/issues/179_09_031103/byr10494_fm.html>.
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<http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000600015>.
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dystrophy and other neuromuscular disease - Patent 6875418." Patent Searching and Inventing Resources. N.p., n.d. Web. 9 Mar. 2011.
<http://www.freepatentsonline.com/6875418.html>.
"Muscular Dystrophies." mda. MDA, n.d. Web. 9 Mar. 2011.
<www.mda.org.au/Disorders/Dystrophies/DMD-BMD.asp>.