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Duchenne

Muscular Dystrophy
Sherri Garcia
Muscular Dystrophy: Walk a Mile in Their
Shoes
CDCs 2005 Science Ambassador Program

Overview

Sympathy vs. empathy


Basic information about Duchenne
muscular dystrophy
Inheritance
Prevalence
Symptoms
Treatments

Understanding(4)

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

Prevalence of DMD(1)

Affects one in 3500


to 5000 newborn
males

1/3 of these with


previous family
history

2/3 sporadic

Symptoms of DMD(1)

Delayed developmental milestones

Loss of motor skills

Characteristic gait

Calf hypertrophy

Clumsiness/frequent falls

More Symptoms of DMD(1)

Muscle weakness

Difficulty climbing stairs or hills

Difficulty rising (Gowers sign)

Difficulty walking/running

Link to Gower's Sign

Treatments for DMD (1)

To improve breathing:
O2

therapy

Ventilator
Scoliosis

surgery

Tracheotomy

Treatments (cont.) (1)

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 socalled 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-Ms
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 Parents 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/