What is Duchenne Muscular Dystrophy?

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.  We continue to be hopeful that the current progression of the disease is halted by a future cure. 

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.  

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. 

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. 

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.