Transcript Muscular Dystrophy

Muscular Dystrophy
By: Greg Chancellor and Nathan
Davis
How can someone get MD?
• Muscular dystrophy is an X- linked recessive gene.
This means that males are affected by MD more
because they only have one X chromosome so they
only need one faulty gene to be present instead of 2
for women.
• The cause for Duchenne/Becker Muscular Dystrophy
is because of an altered DMD gene which is
responsible for making the protein dystrophin. It is
believed this protein help protect and stabilize
muscle tissue.
More MD Info
• Muscular Dystrophy affects 1 in 3,000 to 3,500 newborn males. Females are
rarely affected by Duchenne/Becker Muscular Dystrophy. There are about
200,000 cases in the US.
• A son of a carrier of MD has about a 50 percent chance of developing the
disease, while a daughter of a carrier has a 50 percent chance of being a carrier. If
a boy is unaffected, he cannot pass on MD; however, daughters from a man with
an X-linked dystrophy will all be carriers.
• The diagnosis of muscular dystrophy is based on the results of a muscle biopsy
and increased creatine phosphokinase (CpK3). In some cases, a DNA blood test
may be all that is needed.
• Progressive muscular wasting, poor balance, drooping eyelids, gonadal, loss of
bladder are just some of the many symptomes
• It varies on the severity the disease and it can range from 10-60 years of age
• There is no current treatment for MD but people can go through PT to strenthen
and help improve mobility
• Stem Cell research is being used to regenerate damaged tissue and could be
promising to people with MD. New techniques in PT and other therapies are also
being developed.
Getting Personal
• Everyday life for someone with MD varies on how severe and what type of
MD they have. Some types are mild and slowly become worse over time.
Other types are very severe and can cause someone to die in infancy.
• Someone with MD has mobility limitations and can some times not speak
well. It is hard for them to get around and they usually need assistance
from a wheel chair.
• Some organizations that can help:
• http://www.mdausa.org/
• http://www.ninds.nih.gov/disorders/md/md.htm
• It is very possible that a cure for MD will be found soon with all the
research going into stem cells these days. But we might not be able to stop
people from having it because it is a genetic disease and those genes can
get passed on. Unless we find a way to block those genes or replace them
with a good gene then MD might always be apart of our society.
Resources
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http://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy
http://en.wikipedia.org/wiki/Muscular_dystrophy
http://my.clevelandclinic.org/disorders/muscular_dystrophy/hic_muscular_dystrophy.aspx
http://www.sciencedaily.com/releases/2009/03/090305102711.htm
http://www.nlm.nih.gov/medlineplus/musculardystrophy.html