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TITLE BOX: Muscular Dystrophy - Muscular Duchene and Becker               TYPE:  gene-based GENE:  DMD PROTEIN AFFECTED:Dystrophin -  

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TITLE BOX: Muscular Dystrophy - Muscular Duchene and Becker               TYPE:  gene-based GENE:  DMD PROTEIN AFFECTED:Dystrophin -  

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INHERITANCE PATTERN:
X-Linked Recessive

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INHERITANCE PATTERN:
X-Linked Recessive

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The damaged gene (with a mutation) is located on X chromosome. Males that inherit this gene from their mothers will have the disease.

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1 in 3,500 to 1 in 5,000  newborn males are born with MD worldwide each year.
This is the same as .0002-.0003 percent of males born worldwide will have MD.

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CAUSES:  The DMD gene has instructions for making the protein dystrophin.

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CAUSES:  The DMD gene has instructions for making the protein dystrophin.

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How is the body affected: Skeletal muscles and heart muscle are weaker.  This affects movement and heart function.
INTERESTING FACT:
Muscular dystrophy happens almost exclusively in males.

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Details about person with disease.

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The summer of 2004 started out for our family as a "summer to end all summers." We had two rambunctious yet delicious boys - Sam was four years old and Charley was three. In July, their Papa and Gammy treated our extended family to a two-week vacation in Tuscany. Sixteen and half of us (our daughter Maisy was due the following November) walked through the countryside, baked pizza in a brick oven, gesticulated wildly with the friendly locals, and consumed copious amounts of pasta, cheese, gelato and wine.
That summer will endure forever in our minds, but not in the way we expected. Shortly after we returned from our dream trip Charley was diagnosed with Duchenne muscular dystrophy, a horrifying muscle-wasting disease that is 100% fatal. "Unless a cure or treatment is found," we were told, "Charley will lose his ability to walk by adolescence and subsequently lose all muscle function. He will die from respiratory or heart failure in his late teens or early twenties."

This news was impossible to square with the quirky little 3-year-old who had just spent hours at a time kicking a soccer ball under the Tuscan sun with his seven cousins. This could not be true. It will not be true. We immediately determined to find treatments in time to save his life. And we got to work.

When we learned of Charley's diagnosis and launched Charley's Fund, our goal was to stop this disease - or slow it dramatically - so that it wouldn't have a chance to knock Charley off his feet or wipe that kooky grin off his face. Today, the first medications to treat Duchenne are now making their way through the regulatory process. Charley is part of a clinical trial for an experimental treatment that could slow deterioration and preserve muscle function. It's looking like we just might come out ahead.

Incredibly, over the past decade Charley's Fund has directed more than $36 million to medical research and drug development. We have grown from a literal "mom and pop" effort into an organization that is having a global impact on the pace of therapeutics development for Duchenne muscular dystrophy.

The progress has been historic, but we are not celebrating until we finish what we started. Duchenne still causes terrible suffering and death for many thousands of children around the world. Each day our children lose something that most people are lucky enough to take for granted: the ability to jump, to hold a pencil, to hug, to breathe. Each day that passes is a day too long in this fight.

Your support has enabled us to make historic progress. Going forward, we will continue knock down every hurdle that stands in the way until all kids with Duchenne get access to the medicines they need to live long, healthy lives. Thank you for helping us make Duchenne history (double entendre intended)!

With sincere gratitude,
Tracy and Benjamin Seckler
Charley's Mom and Dad

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Charley's Story - Charley's Fund - Fighting Duchenne Muscular Dystrophy

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The summer of 2004 started out for our family as a "summer to end all summers." We had two rambunctious yet delicious boys - Sam was four years old and Charley was three. In July, their Papa and Gammy treated our extended family to a two-week vacation in Tuscany.

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CAUSES:  Dystrophin causes damage to skeletal and cardiac muscle fibers.  
"The damaged fibers weaken and die over time, leading to the muscle weakness and heart problems characteristic of Duchenne and Becker muscular dystrophies."

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CAUSES:  Dystrophin causes damage to skeletal and cardiac muscle fibers.  
"The damaged fibers weaken and die over time, leading to the muscle weakness and heart problems characteristic of Duchenne and Becker muscular dystrophies."