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Duchenne Muscular Dystrophy Disease

Published on Nov 18, 2015

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PRESENTATION OUTLINE

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DUCHENNE MUSCULAR DYSTROPHY DISEASE

AUSTIN BANZON
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HISTORY

  • First described by Giovanni Semmola in 1834.
  • And Gaetano Conte in 1836.
  • Named after French neurologist in 1861
  • Guillaume-Benjamin-Amand Duchenne (de Boulogne)
  • Author of "Paraplegie hypertrophique de l'enfance de cause cerebrale"
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CURRENT RESEARCH

  • Exon-skipping
  • Stem cell replacement therapy
  • Gene replacement
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SYMPTOMS

MUSCLE WEAKNESS
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SYMPTOMS (EARLY PHASE)

  • Clumsiness
  • Large calf muscles
  • Thinking problems
  • Trouble remembering
  • Trouble focusing
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SYMPTOMS (LATE PHASE)

  • Heart problems
  • Trouble breathing
  • Trouble swallowing
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AFFECTED BODY SYSTEMS

  • Different groups of muscles
  • DMD causes muscles cells to die
  • Common in boys rarely in girls
  • Muscles become weak,small,and deformed
  • Starts in the lower limbs and pelvis
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HOW YOU RECEIVE IT

  • Caused by mutation
  • Located on the dystrophin gene
  • The largest gene on human X chromosome
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GENE MUTATION

NORMAL MUSCLE CELLS (LEFT) DYSTROPHY MUSCLES CELLS (RIGHT)
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TREATMENTS

  • Medicines are given to decrease the symptoms
  • Rehabilitation therapy
  • Surgery
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HOW ITS DIAGNOSED

  • Biopsy
  • Heart monitor
  • Electromyography
  • Genetic test
  • Magnetic resonance imaging
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BIBLIOGRAPHY

  • http://tinyurl.com/l4vkeh9
  • .
  • "Duchenne Muscular Dystrophy." - Care Guide. N.p., n.d. Web. 13 Dec. 2013. . "Duchenne Muscular Dystrophy." - Care Guide. N.p., n.d. Web. 13 Dec. 2013. . "Duchenne Muscular Dystrophy." Wikipedia. Wikimedia Foundation, 12 Aug. 2013. Web. 10 Dec. 2013.

Austin Banzon