Latest Activity: Feb 3, 2017
Started by Rahul Deshpande. Last reply by Tuyet Lan Thi Tran Jul 26, 2014.
Started by Kira Mullaly. Last reply by vishal wadhwani Jul 25, 2014.
Started by Tammy. Last reply by Ramya Srinivassan May 2, 2014.
My son Simon, 11, also has deletions of 48-50, and is doing well and is a participant in the exact trial Andrew mentioned. We have been discussing recently here how to get this drug approved faster, which would open the gates for other medications to flolllow.
There are trials going on now for skipping exon 51, which would bring your son back into frame (make partially functional dystrophin).
my son is two and also recently diagnosed and has deletions of 48-50 anyone else with a son that has the same, has there been any treatments for this particular deletion?
Hi everyone, we are pretty new here and a bit shy to write here. Our son was recently diagnosed with dmd. He is four. I wonder if there is anyone hwo has deletion of exon 72. I'd really appreciate hearing from you. Thanks!
It does not matter how many exons are deleted. Each exon has a certain shape that fits together with the next one. There could be several deleted, but if the next one there fits with the one before the deletion, it would actually be less severe. If they don't fit, they don't fit, regardless of the deletion between them.
Does that make sense? I think there are studies trying to figure out if which exons are skipped has an effect on severity, but I don't know of any conclusive evidence yet. I think it progresses in each individual at a slightly different rate, but no one knows why for sure.
Does anybody know if there is any relation to the amount of exons skipped and how fast the disease progresses?
I like this link too for understanding which exon my son needs skipped to correct his mutation. My son's deletion is 3-7. If you look at the shapes of the exon you'll notice he needs to skip exon 8 so exon 2 will "fit" to exon 9.
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