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

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

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

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

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

Where is This Gene?

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

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

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

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

Treatments for DMD (1) To improve breathing: To improve breathing: O 2 therapy O 2 therapy Ventilator Ventilator Scoliosis surgery Scoliosis surgery Tracheotomy Tracheotomy

Treatments (cont.) Treatments (cont.) (1) To improve mobility: To improve mobility: Physical therapy Physical therapy Surgery on tight joints Surgery on tight joints Prednisone Prednisone Non-steroidal medications Non-steroidal medications Wheelchair 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 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 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 Muscle tissue is large and relatively impenetrable Viruses might provoke the immune system and cause the destruction of muscle fibers with the new genes Viruses might provoke the immune system and cause the destruction of muscle fibers with the new genes

Summary Empathy vs. sympathy Empathy vs. sympathy Definition of muscular dystrophy Definition of muscular dystrophy Inheritance Inheritance Prevalence Prevalence Symptoms Symptoms Treatments 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: References: 1. “Muscular Dystrophy” PowerPoint by Katherine Kolor, PhD, MS, CDC Ambassador Program, June Pobojewski, S. The University Record, November 9, U-M’s improved viral vector delivers dystrophin gene to mouse muscle without major immune Response [online] [cited 2005 June 26]. Available at URL: 3. Journey of Love: A Parent’s Guide to Duchenne Muscular Dystrophy [online] [cited 2005 June 22]. Available from URL: 4. Dictionary.com. Lexico Publishing Group, LLC. [online] [cited 2005 June 22]. Available from URL: