Duchenne muscular dystrophy is a genetic, progressive muscle disorder that affects males. It is caused by defects in muscle proteins and results in the death of muscle tissue. The disorder is inherited in an X-linked recessive pattern, with mothers passing the recessive gene to their sons. Symptoms include delayed development, loss of motor skills, muscle weakness, and difficulty walking or climbing stairs. Current treatments aim to improve mobility, breathing, and manage symptoms, but there is no cure. Researchers are working on gene therapy as a potential treatment by delivering dystrophin genes to muscle cells using modified viruses.

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

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

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
 Trait is 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/