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Title:

Duchenne Muscular Dystrophy

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Title: Duchenne Muscular Dystrophy Author: user Last modified by: user Created Date: 6/2/2013 8:50:27 AM Document presentation format: (4:3) – PowerPoint PPT presentation

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Title: Duchenne Muscular Dystrophy


1
Duchenne Muscular Dystrophy
  • Sunny

2
Basic information
  • Gradual weakening of muscle
  • 1 in 3,500 male infants

3
Causes
  • X-linked recessive
  • Gene that codes for dystrophin (Keeps muscle
    cells together by maintaining the cell structure)

4
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5
Symptoms
  • 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

6
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7
Other effects
  • Bones develop abnormally
  • Breathing problems
  • Caused by deformed bones and muscle
    weakness
  • Cardiomyopathy
  • Life expectancy 27
  • Death due to breathing problems and heart
    problems

8
Diagnosis
  • 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

9
Treatment
  • No cure
  • Steroids- maintain muscle function and slow
    muscle weakening
  • Physical therapy- maintain muscle strength
  • Assisted Ventilation
  • Surgeries
  • Cardiac transplantation

10
References
  • http//www.parentprojectmd.org/site/DocServer/Sept
    _09_Final_DMD_fact_sheet.pdf?docID8002
  • http//www.nlm.nih.gov/medlineplus/ency/article/00
    0705.htm
  • http//www.patient.co.uk/health/duchenne-muscular-
    dystrophy
  • http//www.genome.gov/19518854
  • http//www.mayoclinic.com/health/muscular-dystroph
    y/DS00200/DSECTIONtreatments-and-drugs
  • http//www.neurosurgeryresident.net//Mus.20Muscul
    ar,20Neuromuscular20disorders/Mus5a.20Duchenne
    20muscular20dystrophy20(1).jpg
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