Lately my son has been falling down on his own when he tries to walk. He can't really run or jump. When he gets up from laying down he tends to have a lot of trouble. This is concerning me because these are known symptoms of DMD, so I have brought my son to the doctor. He is only two so let's hope for the best
After the Blood Test
Well it seems to me as you are a carrier of DMD. DMD that is found in girls is very rare because DMD is an x linked recessive chromosome disease. It is a mutation issue with DNA. Since girls have two X chromosomes they normally are only carriers but boys have one X chromosome so it affects them more often.
The blood tests say he has large amounts of creatine kinase I am so sorry, your son has DMD
How is this even possible? My daughter is already 13 doesn't have DMD
DNA is made up of genes. This genes hold instructions to make protein. They pass on the instructions to mRNA to code a certain protein. Dystrophin is a protein our muscles need to move around. The gene for dystrophin is mutated so it gives mRNA the wrong instructions and mRNA therefore cannot produce dystrophin. The lack of dystrophin is the DMD disease.
How does the mutation even arise?
Exons hold a code for protein. Think of exons like a puzzle. When all the right pieces and the pieces that go with each other are in the same you can put it together for correct puzzle, when all exons are present the muscle is fully capable of moving thanks to dystrophin. For DMD there is exons missing thanks to the mutation. Therefore the puzzle cannot e complete, dystrophin cannot be made, and he muscle tissue is weak and empty.
What is supposed to happen with the right instructions? What happens when it is mutated?
Dystrophin is more commonly known in muscles. Small amounts can be found in your heart as well as sometimes in your brain. Dystrophin helps the muscle move, maintain their shape, and increases muscle strength. During exercise the muscle tears, repair, and enlarge. When dystrophin cannot be made due to mutation the muscle rip leaking creatine kinase (another protein) into the blood system. The muscle then gets filled with fat and the muscles become weaker and weaker shortening the lifespan.
What does dystrophin do? How does the mutation affect it?
Okay thank you doctor. These answers have been helpful and my understanding of DMD has increased. That's all my questions for today. We will see you at the next appointment.
Well luckily since your son has been diagnosed in the early stages we can put him on a certain steroid to slow down muscle deterioration. Some recommend physical therapy but it can increase muscle deterioration as well as decrease it, it is not the safest solution.
Is there anything we can do to lengthen his lifespan?