A genetic, fatal, muscle wasting disease that affects young children and young adults.  

Learn about Duchenne below. 

Scratch the surface

Duchenne Muscular Dystrophy weakens a person muscles over time because that person has bad genes. Duchenne patients at first have a hard time walking when they are younger. Then they lose their ability to walk and then they lose strength in their arms. Then Duchenne targets the heart and lung muscles, often leading to death in people's mid 20's. 


Go Deeper

Duchenne Muscular Dystrophy weakens a person muscles over time because that person has a genetic defect in the Dystrophin gene, which is responsible for producing a chemical that repairs the muscles. This then leads to muscles, including the heart and lung muscles, not being able to repair themselves. Think about a car. If you never repair the car, the car will eventually break down and you won't be able to use it.

Dive In 

Muscles are made up of long cells called Myocytes that allow the muscle to contract, which allow the muscles to move. 

On these Myocyte cells, a structural protein called Dystrophin is present on the membrane of the cell. The Dystrophin protein acts as a chain that connects the Extracellular Matrix and the Actin Cytoskeleton together. The Dystrophin protein chain prevents damage from the Myocyte membrane when the muscle contracts. 

The Dystrophin protein has 3 important parts to it. The Actin-Binding end, which connects the Dystrophin protein to the Actin Cytoskeleton. The central rod. The Dystroglycan-Binding End, which attaches the Dystrophin protein to the Dystroglycan Complex within the Myocyte membrane. The Dystroglycan Complex is anchored to the Extracellular Matrix. 

Patients with Duchenne have a genetic mutation in the Dystrophin gene. This makes the Dystrophin protein extremely short and it often means that patients are missing the 3rd part of the Dystrophin protein, the Dystroglycan-Binding End. This makes the Dystrophin protein dysfunctional and pretty much useless. 

Without the entire Dystrophin protein, there is nothing being able to prevent damage from the Myocyte membrane when the muscle contracts, which leads to little rips in the Myocyte Membrane every time a person with Duchenne moves a muscle. 

Due to the Myocyte Membrane being ripped up, this allows for small chemicals to go in and out of the Myocyte cell. It’s like having holes in a water bottle: there’s nothing to prevent the water from leaving the bottle. Some of the chemicals that damage the Myocyte (the muscle cells) is calcium ions, which is very present outside of the Myocyte Membrane. 

Inside of the Myocyte cell you have this Inactive protease, which is responsible for breaking down old proteins. However, with a not normal amount of calcium entering the Myocyte cell too many proteases get activated and they eat away at healthy proteins that can still be used. This kills the Myocyte cell and thus kills the muscles. Another unfortunate thing that occurs within Duchenne patient’s Myocyte cells is the release of Creatine Kinase. This chemical is responsible for storing energy for the cell to use, but with less of Creatine Kinase, the muscles get tired and thus they get weaker. 

As muscles die, they are replaced with fat and scar tissue.