Duchenne Muscular Dystrophy, also known as DMD, is a genetic disorder which progressively degenerates’ muscles. It is one of many types of muscular dystrophy. DMD is caused by the absence of the protein dystrophin, which helps keep muscle cells intact. The disease affects mainly boys, and only in extremely rare cases affects girls. People with DMD are unlikely to live very far beyond their 20s – 30’s, but that number is increasing.
DMD is caused by a mutated gene on the X chromosome. The mutated gene does not contain the vital protein dystrophin, causing the muscle cells to degenerate. DMD is passed on by the mother, who is referred to as a DMD "carrier". A son born to a mother who is a carrier has a 50% chance of contracting the disease. Any daughters born to a carrier have a 50% chance of inheriting the mutated gene and becoming a carrier. So, why don’t girls get affected by the gene? This is because even if a girl receives a mutated chromosome, she will have another healthy one which can provide her with more than enough dystrophin to protect her from the disease.
DMD is caused by a mutated gene on the X chromosome. The mutated gene does not contain the vital protein dystrophin, causing the muscle cells to degenerate. DMD is passed on by the mother, who is referred to as a DMD "carrier". A son born to a mother who is a carrier has a 50% chance of contracting the disease. Any daughters born to a carrier have a 50% chance of inheriting the mutated gene and becoming a carrier. So, why don’t girls get affected by the gene? This is because even if a girl receives a mutated chromosome, she will have another healthy one which can provide her with more than enough dystrophin to protect her from the disease.
At ages as young as 3-5, muscle weakness can begin. It first affects muscles of the hips, shoulders, thighs and pelvic area, before spreading further around the body. By the teen years, heart and respiratory muscles become affected. Unfortunately, from a young age, children with Duchenne Muscular Dystrophy can become clumsy, fall often, and have trouble moving like a normal child. Usually, between the ages 7-12, affected children have ended up in a wheelchair.
There is no known cure for DMD, but promising breakthroughs have recently been made. Professor Graham Lamb mentioned in his interview that a new treatment called "gene skipping" could almost cure the terrible disease. Other treatments include the use of steroid or drug use, physical therapy and use if amino acids. Genetic treatments currently seem like the most promising and effective ways to help get rid of Duchenne Muscular Dystrophy. Other things used extend the life of someone with DMD include respiratory aids, wheelchairs and other walking aids.
There is no known cure for DMD, but promising breakthroughs have recently been made. Professor Graham Lamb mentioned in his interview that a new treatment called "gene skipping" could almost cure the terrible disease. Other treatments include the use of steroid or drug use, physical therapy and use if amino acids. Genetic treatments currently seem like the most promising and effective ways to help get rid of Duchenne Muscular Dystrophy. Other things used extend the life of someone with DMD include respiratory aids, wheelchairs and other walking aids.