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Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy. Sherri Garcia Muscular Dystrophy: Walk a Mile in Their Shoes CDC’s 2005 Science Ambassador Program. Overview. Sympathy vs. empathy Basic information about Duchenne muscular dystrophy Inheritance Prevalence Symptoms Treatments. Sympathy

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Duchenne Muscular Dystrophy

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  1. DuchenneMuscular Dystrophy Sherri Garcia Muscular Dystrophy: Walk a Mile in Their Shoes CDC’s 2005 Science Ambassador Program

  2. Overview • Sympathy vs. empathy • Basic information about Duchenne muscular dystrophy • Inheritance • Prevalence • Symptoms • Treatments

  3. Sympathy A feeling or an expression of pity or sorrow for the distress of another; compassion or commiseration Understanding(4)

  4. Understanding (4) • Empathy Identification with and understanding of another's situation, feelings, and motives

  5. What Is Duchenne Muscular Dystrophy?(1) • Genetic • Progressive muscle weakness • Defects in muscle proteins • Death of muscle tissue

  6. Where is This Gene?

  7. Duchenne Muscular Dystrophy Inheritance(1) • Mother carries the recessive gene and passes it to her child • Traitis usually expressed in males only Punnett Square Link

  8. Prevalence of DMD(1) • Affects one in 3500 to 5000 newborn males • 1/3 of these with previous family history • 2/3 sporadic

  9. Symptoms of DMD(1) • Delayed developmental milestones • Loss of motor skills • Characteristic gait • Calf hypertrophy • Clumsiness/frequent falls

  10. More Symptoms of DMD(1) • Muscle weakness • Difficulty climbing stairs or hills • Difficulty rising (Gower’s sign) • Difficulty walking/running Link to Gower's Sign

  11. Treatments for DMD (1) • To improve breathing: • O2 therapy • Ventilator • Scoliosis surgery • Tracheotomy

  12. Treatments (cont.) (1) • To improve mobility: • Physical therapy • Surgery on tight joints • Prednisone • Non-steroidal medications • Wheelchair

  13. The Beginning of Gene Therapy for DMD (2)

  14. Advances in Gene Therapy(3) • Researches have developed "minigenes," which carry instructions for a slightly smaller version of dystrophin, that can fit inside a virus • Researchers have also created the so-called gutted virus, a virus that has had its own genes removed so that it is carrying only the dystrophin gene

  15. Problems with Gene Therapy(3) • Muscle tissue is large and relatively impenetrable • Viruses might provoke the immune system and cause the destruction of muscle fibers with the new genes

  16. Summary • Empathy vs. sympathy • Definition of muscular dystrophy • Inheritance • Prevalence • Symptoms • Treatments

  17. Making Real Sense of the Senses by Mattie Stepanek Our eyes are for looking at things. But they are also for crying When we are very happy or very sad. Our ears are for listening, But so are our hearts. Our noses are for smelling food, But also the wind and the grass and If we try really hard, butterflies. Our hands are for feeling, But also for hugging and touching so gently. Our mouths and tongues are for tasting But also for saying words, like "I love you" and "Thank you, God, for all of these things." Mattie's Home Page

  18. References: 1. “Muscular Dystrophy” PowerPoint by Katherine Kolor, PhD, MS, CDC Ambassador Program, June 2005. 2. Pobojewski, S. The University Record, November 9, 1998. U-M’s improved viral vector delivers dystrophin gene to mouse muscle without major immune Response [online]. 1998. [cited 2005 June 26]. Available at URL:http://www.umihc.edu/~urecord/9899/Nov09_98/12.html 3. Journey of Love: A Parent’s Guide to Duchenne Muscular Dystrophy [online]. 2004. [cited 2005 June 22]. Available from URL: http://www.mdausa.org/publications/journey/5.html 4. Dictionary.com. Lexico Publishing Group, LLC. [online]. 2005. [cited 2005 June 22]. Available from URL: http://dictionary.reference.com/

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