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

 Empathy
Identification with
and understanding
of another's situation,
feelings, and motives
 What Is Duchenne Muscular
Dystrophy?(1)
 Genetic

 Progressive muscle weakness

 Defects in muscle proteins

 Death of muscle tissue

Where is This Gene?
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

 (1)
Prevalence of DMD
 Affects one in 3500
to 5000 newborn
males

 1/3 of these with

previous family
history

 2/3 sporadic
 (1)
Symptoms of DMD
 Delayed developmental milestones

 Loss of motor skills

 Characteristic gait

 Calf hypertrophy

 Clumsiness/frequent falls
 (1)
More Symptoms of DMD
 Muscle weakness

 Difficulty climbing stairs or hills

 Difficulty rising (Gower’s sign)

 Difficulty walking/running

Link to Gower's Sign

 (1)
Treatments for DMD
 To improve breathing:
O therapy
2

 Ventilator

 Scoliosis surgery

 Tracheotomy
 (1)
Treatments (cont.)
 To improve mobility:
 Physical therapy

 Surgery on tight joints

 Prednisone

 Non-steroidal medications

 Wheelchair
The Beginning of Gene Therapy
for DMD (2)
 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
 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
 Summary
 Empathy vs. sympathy
 Definition of muscular dystrophy
 Inheritance
 Prevalence
 Symptoms
 Treatments
 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

 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/