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Duchenne Muscular Dystrophy

World Duchenne awareness day falls on the 7th of September. It is to raise awareness of the disease. So what exactly is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy (DMD) is a genetic disorder characterised by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. There are many different types of muscular dystrophy but Duchennes is the most common and most severe. Over 70000 people in the UK live with muscular dystrophy, with over 2500 living with muscular dystrophy. It is more common in males with over 100 boys being born with it each year. Only 1 in 50 million girls have Duchenne muscular dystrophy, it is very rare in girls.

Duchenne Muscular dystrophy is an X- linked chromosomal disorder. It is due to a mutation of the dystrophin gene which is located on the X chromosome. Dystrophin provides muscle integrity, the absence of mutation of dystrophin causes the muscles to atrophy, to waste away. A woman who carries one X-linked gene variant has a 50% chance of having a son with the disease and a 50% chance of having a daughter who is a carrier. A man with an X-linked recessive disorder cannot pass on the disease to his sons, but all of his daughters will be carriers.

Muscle weakness typically begins very early on in childhood and it worsens very quickly. Most are unable to walk by the age of 12. As the disease progresses the lung and heart muscles become affected. This greatly diminishes breathing and blood circulation. The patient could require ventilator intervention. Most patients don’t live to pass their thirties. There is no cure for Duchenne muscular dystrophy but medications such as steroids are used to help slow muscle degeneration, and immunosuppressants to delay damage to dying muscle cells.

World Duchenne day is important as it raises awareness around this disease as well as raising funds for research and for families combating this disease.

Interested in learning more about the human body? Join us at The Post Mortem Live to discover the secrets within.


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