What is Duchenne Muscular Dystrophy?

What does Duchenne effect?

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The disease prohibits the body to effectively build muscle.  In fact, it cause muscles to gradually become weaker over time.  The lack of Dystrophin protein causes the muscles throughout the body to gradually weaken.  Boys lose the ability to walk between 7 to 10 years of age.  The spine and lungs become effected as the disease progresses in later years of life.  The lungs become so weak that ventilators are required to support life in the 20's.   Lung failure causes the life expectancy for boys with Duchenne to be around the age of 25.  

Why does the disease only occur within boys?

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Duchenne is a genetic disease that is linked to the X chromosome. Males have both and XY chromosome while females have an XX chromosome.   Since the genetic disorder is only carried by the X chromosome, females secondary X chromosome that is passed along from their father offsets the Duchenne disorder.  However, males acquire the X chromosome from their mother or from a mutation at birth that can not be offset by a secondary X chromosome.  

What are the current treatments?

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Unfortunately, since the discovery of the disease in the late 1800's minimal treatment options exist.  Boys that are diagnosed today are typically prescribed steroids.   This treatment only slows the progression of the disease by a few years.  In addition, their are numerous negative side effects including: stunted growth, behavior issues, dependance, and bone loss.  The boys effected begin physical therapy immediately in hopes to build muscle and maintain flexibility. 

What are some of the signs your son may have Duchenne?

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There is not a standard test performed at birth for Duchenne Muscular Dystrophy.  Boys with Duchenne are typically diagnosed between the ages of 2 to 5.  At this age, the disease becomes more noticeable as gross motor skills such as running and walking up stairs is not as easy as their peers.  Often times, boys with Duchenne do not walk until 18 months of age or later. 

How is the disease diagnosed?

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A Neurologist can perform a Creatine test to determine if elevated levels within the blood are present.  If so, this signifies that there is an abnormal amount of muscle tissue breaking down within the body.  Once elevated levels are found, doctor can perform a DNA test or muscle tissue biopsy to determine the exact type of Muscular Dystrophy that is present.  

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