This is Jimmy. Jimmy has Duchennes Muscular Dystrophy(DMD). His parents first noticed when Jimmy was having symptoms. They looked up his symptoms and they found the symptoms of DMD.The disorder usually shows in 2 to 3 years of age. At first the weakness should affect muscles that are closer to the midline of the body and the lower limbs. The child will usually have a walk that appears to look like waddling. Symptoms include having trouble running, jumping, climbing stairs, and rising from the floor.
Duchenne Muscular Dystrophy (DMD) is inherited from an X-linked pattern. In the patient’s DNA, there is a gene that can carry DMD causing a mutation that is on the X chromosome. It is typically found more in boys because if the mom has a dystrophin mutation one of her two X chromosomes have a 50 percent chance of affecting the son. It is less common in girls because they have another X chromosome that protects them, unlike a male who only has one.
How did Jimmy acquire this disorder?
The following therapies help with living a longer life: Occupational therapy Improves daily living and work skills of patients. Physical therapy Restores muscle strength and function through exercise. The following medications also help with the disorder: Eteplirsen (Exondys 51) The first medication to be approved by the Food and Drug Administration specifically to treat Duchenne muscular dystrophy Corticosteroids, such as Prednisone, which can help muscle strength and delay the progression of certain types of muscular dystrophy.
So how did the mutation cause this?
DMD happens when the mutated gene lacks in the production of functional dystrophin. In many situations of DMD the mutated gene is in the middle of the process of making dystrophin but once the mutated gene is encountered the production cancels itself and little to no dystrophin is made. Since the DNA makes mRNA the mRNA carries the mutated gene and it transfers it to where amino acids are made and when trying to make the protein for dystrophin there is a flaw.
The information on the gene is supposed to let the protein be made and let the muscles regenerate without there being any problem. The mutated gene makes this entire system, that is a lot more detailed, do the complete opposite. The mutated gene fails in making dystrophin, therefore once the muscles are exhausted there is nothing to make them regenerate and causing the disorder DMD.
What happens with the information in the gene?
The function of dystrophin in muscles is to make the muscles heal from when ripped in exercise and make themselves bigger because they have been worked out. The mutation of the gene doesn’t allow the dystrophin to heal the muscles that have been exercised. This results in the disorder which makes the muscles weak when exhausting them and resulting in not being able to walk by the time of age 12. Until recently, boys with DMD did not live to see past their teenage years but thanks to cardiac and respiratory care people with the disorder can live a longer life and the life expectancy of 30 is becoming more common.