Imagine that you are a kid sitting with your friends on the ground having a good time talking. Then everyone decides to go and play a game of hide-and-seek. You find yourself struggling to get up and your legs are not able to lift you. When you finally do slowly stand up, you find yourself struggling to keep up with the others and you are constantly out of breath. This is how it feels to have Duchenne muscular dystrophy (DMD).
DMD is a genetic disorder that occurs because of an issue in a protein called ‘dystrophin’. This protein plays a vital role in ensuring the structural integrity of your muscles. It is such an important protein that the gene coding for it is the largest in the human body. It stretches a record 79 exons (the units of DNA that come together to code for the protein) and has about 2.3 million base pairs.
Even the smallest mutation — a case of one deleted or duplicated exon — can cause DMD. It primarily affects boys but in rare cases, it affects girls too. This leads to progressive muscle failure and as the kid grows, the muscles fail to keep up. Soon, by the age of 10, he needs a wheelchair and by 18, he has trouble breathing. The boy’s most important muscles — the heart and lungs — soon get affected and DMD proves to be fatal by the mid 20s.
Why does the disease mostly affect boys? The gene is found only on the X chromosome and boys have only one copy, which, if affected, has no back-up option. Girls, on the other hand, have two X chromosomes, so even if one has an issue, the other will make up for it.
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