Duchenne muscular dystrophy is caused by changes (also called ‘mutations’) in the DMD gene.
These changes impact the body’s instructions to make a protein called dystrophin.
Dystrophin is an essential component of the muscle that impacts the strength, stability and function of skeletal muscles, including the muscles that move air into and out of your lungs and support your heart’s ability to pump.
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How the inability to produce dystrophin results in the symptoms of Duchenne.
Without dystrophin, the muscle cells do not have the same strength and stability during muscle contraction. As a result, they get damaged as they get used – much like a broken spring coil that cannot fluidly retract and expand. Muscles try to compensate for this damage by growing new cells, but eventually, the muscles stop producing these compensatory cells and the healthy muscle is replaced by scar tissue.
What does this mean?
The lack of this critical protein within the body results in muscle weakness because the muscle fibres are breaking down. Eventually these fibres are completely lost and replaced with fatty tissue or scar tissue, which leads to the loss of muscle function. For example, if the leg muscles are affected by the lack of functional dystrophin, the result will be the eventual loss of the ability to walk.
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Understanding the causes of Duchenne empowers researchers to find more effective treatments.
Many scientists and doctors are working on potential treatments that focus on protecting muscle integrity and encouraging muscles to keep growing. Considering that, until the late eighties, we had no idea what even caused Duchenne, we have already come so far and innovations in research will continue to move our cause forward.
The immense progress made possible by clinical research brings us hope.
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