Download Duchenne Muscular Dystrophy

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 Gradual
weakening of muscle
 1 in 3,500 male infants
 X-linked
recessive
 Gene that codes for dystrophin (Keeps
muscle cells together by maintaining the cell
structure)
 Muscle
weakness- beginning from lower limbs
 Wasting- loss of muscle
 Delay of ability of walking
 Frequent falls
 Have difficulty of getting up from the ground
 Psuedohypertophy- bigger calves
 Learning difficulty
 Bones
develop abnormally
 Breathing problems
Caused by deformed bones and muscle
weakness
 Cardiomyopathy
 Life expectancy: 27
Death due to breathing problems and heart
problems
 Genetic
test
Use blood sample
-find major change(insertion, deletion)
-code out the gene for making
dystrophin
 Blood test
High levels of creatine kinase(usually
concentrated in muscle cell) in blood
 Muscle Biopsy
Absence of dystrophin in muscle
 No
cure
 Steroids- maintain muscle function and slow
muscle weakening
 Physical therapy- maintain muscle strength
 Assisted Ventilation
 Surgeries
 Cardiac transplantation
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http://www.parentprojectmd.org/site/DocServer/Se
pt_09_Final_DMD_fact_sheet.pdf?docID=8002
http://www.nlm.nih.gov/medlineplus/ency/article/0
00705.htm
http://www.patient.co.uk/health/duchennemuscular-dystrophy
http://www.genome.gov/19518854
http://www.mayoclinic.com/health/musculardystrophy/DS00200/DSECTION=treatments-and-drugs
http://www.neurosurgeryresident.net//Mus.%20Musc
ular,%20Neuromuscular%20disorders/Mus5a.%20Duche
nne%20muscular%20dystrophy%20(1).jpg