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Transcript 
Duchenne Muscular
Dystrophy
Manuela Richter
DMD
Pre-Genetic Diagnosis
•  onset by 5 years old
•  in wheelchair by 12
•  rapidly progressive
o 
begins in pelvic/thigh region
o 
instability in muscles
o 
muscle tissue replaced by
adipose or fibrous tissue
•  lack of dystrophin
•  motor difficulties
•  enlarged calves
Pre-Genetic Treatment
•  Slowing progression
o 
steroids
o 
ventilation, wheelchairs
•  Physical therapy
•  Treating complications
Genetics
•  Mutation in
dystrophin gene
•  X linked recessive
•  1 in 3600 boys
•  worldwide, all races
Genetic Diagnostics
•  DNA testing
o 
searches for specific,
known dystrophin
mutations
•  Muscular biopsy
o 
tests for presence of
dystrophin
•  Prenatal testing
o 
mutation in another
family member is known
Genetic Research
•  Stem Cell
Replacement
o  muscle satellite
cells
•  Premature stop
codon
o  PTC124
o  aminoglycosides
o  ~15% DMD
patients
•  Gene Therapy
•  Exon-skipping
o 
o 
AON's "turn off" mutations in
dystrophin gene
being tested in humans
Video Clip
http://www.youtube.com/watch?
feature=player_detailpage&v=KA8W5UfE4ts
#t=138s
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