My son, Aaron, was diagnosed with DMD a little more than two years ago now and of course I've spent a lot of time scouring the internet since then. I'm not dull, but I'm not a medical professional either and many of these articles are obviously pertinent and interesting, even...but about 80% gets lost in the translation.

Where do you find easy-to-understand research updates? Or do you have a place where you go to pick apart the medical journals and make sense of them...like a site to help you interpret? Or are you all just medical experts as wells as parents. :)

As an example, I see so many people discussing the exon skipping and the "in frame" and such terms. I understand the terms nonsense mutation, premature stop, deletion...and such but the "in frame" just bowls me over. HELP me understand, please! My DS has a deletion of exon 44. WHAT does that mean?!? Also, when his doctor first got the DNA results back and informed me of the deletion, he said that he couldn't confirm DMD or BMD but that time would tell. Since then (and without my being informed as that HOW) the opinion was changed to "we've known all along it was DMD"...which is true? Does the genetic testing not confirm, or can it confirm without a doubt which MD a boy has?

THANK YOU for your help!!

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This webpage has a layperson-friendly way of explaining different mutations, including out-of-frame and in-frame deletions: http://www.actionduchenne.org/variations

I don't know whether all mutations can be pegged to either DMD or BMD.
I think that a muscle biopsy is the only true way to determine whether your son has DMD or BMD. I was told by a geneticist that our son should have a biopsy done but other docs have said, no, it's DMD so don't. The geneticist had said something about our son's duplication was in the area of BMD. I wasn't successful in trying to contact the geneticist after many tries, but I understand that the 40's region of exons is in the more milder region.

The gene is huge and it has a beginning and an end - 1 though 79 exons and introns. The gene itself is not on a straight line - it folds and has hinges. If you have a mutation at the beginning or end or along the hinges, then it is more likely that you have a more severe mutation....When you have a biopsy done, the muscle is analyzed for dystrophin and if there is some dystrophin, even as little as 5% is helpful. Even BMD can be severe too....it's all on a continuim.

When a mutation is out of frame, I think it is more likely that the protein is trundicated - or terminated. Therefore, when a mutation is out of frame, then it is more likely that the disease is DMD vs. BMD. I recall that Leiden University has a genetic section that has a page where you can imput the mutation and it will tell you whether it's in or out of frame. I honestly don't know if it is that accurate though.

By the way, there are really three types of this type of MD, one that is DMD, one that is BMD and what is referred to as IMD - intermediate type. The differences are based upon the amt of dystrophin that is produced or not produced depending on the type of MD.

I think that your son has a deletion of 44 isn't that bad....and I know that exon skipping is working on 50 and 51 - skipping them. I would bet that 44 is possible. I have even read about someone that has a huge genetic mutation (14 deletions or more) and it is still BMD. I think there is so much to still learn about these disease...
Char Burke
Will's mom - age 6
Char,
I'm with you I think there is so much and so little information to sort through with DMD/BDM/IMD, it can get confusing. I have e-mailed Vanessa with Connect Duchenne and we have set up a time (by phone) to go through most of the same questions you have. I'm not sure if you have done this before? I'm looking forward to speaking with her to have my questions answered and hopefully have a clearer understanding of Deletions. My son is almost 13, still walking and his deletions are 38-43. Not sure if his deletions are in-frame or if he has any dystrophin.
I hope this will be helpful. If you need more information regarding Vanessa at Duchenne Connect, Let me know. Karen
Char Burke said:
I think that a muscle biopsy is the only true way to determine whether your son has DMD or BMD. I was told by a geneticist that our son should have a biopsy done but other docs have said, no, it's DMD so don't. The geneticist had said something about our son's duplication was in the area of BMD. I wasn't successful in trying to contact the geneticist after many tries, but I understand that the 40's region of exons is in the more milder region.

The gene is huge and it has a beginning and an end - 1 though 79 exons and introns. The gene itself is not on a straight line - it folds and has hinges. If you have a mutation at the beginning or end or along the hinges, then it is more likely that you have a more severe mutation....When you have a biopsy done, the muscle is analyzed for dystrophin and if there is some dystrophin, even as little as 5% is helpful. Even BMD can be severe too....it's all on a continuim.

When a mutation is out of frame, I think it is more likely that the protein is trundicated - or terminated. Therefore, when a mutation is out of frame, then it is more likely that the disease is DMD vs. BMD. I recall that Leiden University has a genetic section that has a page where you can imput the mutation and it will tell you whether it's in or out of frame. I honestly don't know if it is that accurate though.

By the way, there are really three types of this type of MD, one that is DMD, one that is BMD and what is referred to as IMD - intermediate type. The differences are based upon the amt of dystrophin that is produced or not produced depending on the type of MD.

I think that your son has a deletion of 44 isn't that bad....and I know that exon skipping is working on 50 and 51 - skipping them. I would bet that 44 is possible. I have even read about someone that has a huge genetic mutation (14 deletions or more) and it is still BMD. I think there is so much to still learn about these disease...
Char Burke
Will's mom - age 6
Wow, two years and I had no idea that there are three variations. I research, and research, and research and then POW! just like that someone announces a gaping hole in what I know. ;) Thank you so much to everyone who has answered so far...you've given me great resources and I appreciate it so much. I hope we all have more GOOD answers soon. I pray every day that the person who's going to cure this mess is working on it right now.

{{{HUGS}}} to all of the families dealing with MD.

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