07 Sep 7th September is World Duchenne Awareness Day
7th September is World Duchenne Awareness Day
Duchenne muscular dystrophy (DMD) is the most common fatal genetic disorder diagnosed in childhood, affecting approximately 1 in every 3,500 live male births (about 20,000 new cases each year worldwide). Because the Duchenne gene is found on the X-chromosome, it primarily affects boys; however, girls are carriers of the gene. The goal of Duchenne Awareness Day 2022 is to raise awareness about Women & Duchenne.
Women who are carriers of the mutation can have clinical symptoms. This can vary from no symptoms at all to being as severely affected as boys and men with Duchenne MD.
Every Duchenne carrier, showing symptoms or not, need regular medical checks and should receive support.
DMD results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin. Because dystrophin is absent, the muscle cells are easily damaged. The progressive muscle weakness leads to serious medical problems, particularly issues relating to the heart and lungs. Young men and some women with Duchenne typically live into their late twenties. There is currently no cure for DMD.
Physiotherapists play an important role in monitoring and maintaining overall physical health for a people with Duchenne Muscular Dystrophy.
Early Signs of Duchenne:
•Baby struggles to lift their head or has a weak neck
•Is not walking by 15 months
•Struggles to walk, run or climb stairs
•Delayed speech and language skills
•Needs help getting up from the floor or walks their hands up their legs in order to stand up
•Has calves that look bigger than normal
•Walks on their toes and waddles
•Walks with their legs apart
•Walks with their chest pointed out and back concave in.
If your child has a combination of these above traits, and you are concerned about your child, ring My Favourite Physio on (02) 9790 4233 or DM us @myfavouritephysio to speak to one of our Paediatric Physiotherapists to find out how we can help your child today.
For more information, please visit http://www.worldduchenneday.org/
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