Download Duchenne Muscular Dystrophy

Duchenne
Muscular
Dystrophy
By: Callia Ricozzi
What is Muscular Dystrophy?
 The
deterioration of the muscles
 Dystrophin

not made  gene mutation
Dystrophin is a protein in most muscle cells
 aids in movement
 Duchenne
 Affects

is the most severe form
1 in 3500 male births
Guillaume–Benjamin–Amand Duchenne
Location
 Xp21.2
X
chromosome, P arm at 21.2
How is it inherited?
X
linked recessive inheritance
 Affects
mostly boys
 Women
usually carriers
Symptoms
 Symptoms
 Muscle
 Bone
weakness between 6 and 11 years
developmental problems
 Enlarged
 Heart
before age 6
calf muscles
failure and irregular beat
 Respiratory
disorders
Living With it
 Can
have difficulty sleeping
 Confined
 Usually
to a wheelchair at age 12
only live to about age 30
Activity
 Can’t
participate in high impact
sports
 Low
impact aerobics are good
 Swimming
is one of the best
activities to participate in
Physical features
Diagnosis
 Muscular
biopsy
 Blood
exams for DMD levels
 Blood
exams for elevated creatine kinase
Treatment - No Cure
 Steroids
for muscles
 Physical
therapy
 Limb
braces or a wheelchair
 Respiratory
therapy
Summary
 Deterioration
X
of muscles
linked Recessive
 Wheelchair
 Life
confinement at age 12
expectancy to age 30
 Muscular
 Physical
biopsy and blood tests
therapy and low impact
aerobics
Works Cited
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"About Duchenne ." EndDuchenne.Org. Parent Project Md, n.d. Web. 30 Nov 2013.
<http://www.parentprojectmd.org/site/PageServer?pagename=understand_about>.
"Duchenne Muscular Dystrophy." Medline Plus. N.p., 01 Feb 2012. Web. 30 Nov 2013.
<http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm>.
"Managing Daily Life." EndDuchenne.Org. N.p., n.d. Web. 30 Nov 2013.
<http://www.parentprojectmd.org/site/PageServer?pagename=Care_elements_daily>.
Affected man in Wheelchair. N.d. Photograph. SugnesWeb. 30 Nov 2013. <http://suguthiva.blogspot.com/2010/09/my-homeworkan-essay-titled-duschenne.html>.
Autosomal Recessive. N.d. Photograph. Inheritance patternsWeb. 30 Nov 2013.
<http://www.uvm.edu/~cgep/Education/Inheritance2.html>.
H&E Stain. N.d. Photograph. NueuromuscularWeb. 30 Nov 2013.
<http://neuromuscular.wustl.edu/pathol/dmdpath.htm>.
Learning About Duchenne Muscular Dystrophy
Lime Green. N.d. Photograph. Awareness-Jewlery.comWeb. 30 Nov 2013. <http://www.awarenessjewellery.nl/nl/cms/ribbon-colors/>.
McKusick, Victor A.. "MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD." OMIM. ohns Hopkins University, 01
Oct 2013. Web. 30 Nov 2013. <http://omim.org/entry/310200>.
Physical Deformities . N.d. Photograph. MEDCHROME MAGAZINEWeb. 30 Nov 2013.
<http://medchrome.com/basic-science/pathology/muscular-dystrophies-md/>.
United States. Center for Disease controll. Muscular Dystrophy. Web.
<http://www.cdc.gov/ncbddd/musculardystrophy/facts.html>.
United States. National Institute for Neurologiclal Disorders and Stoke. NINDS Muscular Dystrophy
Information Page. 2013. Web. <http://www.ninds.nih.gov/disorders/md/md.htm>.