I'm a little hesitant to post here..but just wondering. My son's report indicates
DMD/BMD...we are told DMD though?? Deletions are out of frame..51-55. He is doing
well for his age...walked by 12-13 months, rides a bike, on and off school bus. His
CPK was very high..but primary Doc stated BMD vs DMD..but specialist say DMD..
Should we go for a muscle biopsy?? We go back to Dr. Wong in July...I would love to hear
at what age BMD boys started walking and if most of them can ride bikes..etc...

Thanks
Darcy

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Hi Darcy,
Hum - deletions out of from 51-55 - interesting. We adopted our son and he is duplication 54-57. Anyway, not sure exactly how old your son is....Our son didn't walk until 26 months but does ride a bike, does go up and down bus stairs. Here is what I heard - that the muscle biopsy is not a big deal anymore - it is done with a neddle and it isn't as invasive. That is good - yes? One thing that I did do was have the Children's Hospital geneticist write a letter to the birth mom so she was aware of the DMD and how it could effect her and her children. I think that's really important because of the ethics of the situation. But, that is just my opinion and I don't mean to be telling you what to do.
If you do go ahead with the muscle biopsy, can you share the results with us?
Thank you,
Char Burke
Thanks Char! The BM is aware. (Did not run in family)..I'll let you know results. Is your son on
meds? My son just turned 7....If on meds, did you notice big difference in strength?

Thanks
Darcy
An out of frame deletion would typically be Duchenne. But, one study that looked at mutations and phenotypes listed in the registries and found that 7% of cases don't conform to the "reading frame rule" ie, out of frame = DMD, in frame = BMD. So, it's possible to have an out of frame deletion and have BMD.

As far as I know, the only way to make an absolutely definitive determination on DMD vs. BMD is a muscle biopsy. Total lack of dystrophin is DMD. If dystrophin is present, it's BMD. A DNA test is a strong indicator of whether it's BMD or DMD, but it's not absolutely conclusive, due to the 7% reading frame anomolies from above. You can combine the information of the DNA test result, the reading frame rule, the mutation/phenotype registries, and the clinical presentation to make a pretty good determination in many cases, without a biopsy.

We have the opposite situation - an in-frame deletion, with a test result that said BMD, but the registry entries all say DMD, and he's having DMD like progression. The local clinics were calling it BMD. Dr. Wong saw him for the first time in November and called it DMD. She did not suggest a muscle biopsy. She put him on steroids immediately. He'll be 10 in May. Since on steroids, he seems to be falling less often.

BMD has a really wide range of progression. From nearly DMD, to people that play tennis into their 60's. People with the same mutation - even twins - can have different progressions.
Our son's DNA results said DMD/BMD. When Dr. Wong diagnosed him with BMD she recommended a boipsy. We are going on the 8th of May for Michael's biopsy. My husband and I chose to do it becuase we want answers and all the information we can get to better the care for our son. We have not started steroids and we are not sure if we want to anytime soon. He does great, rides a bike, climbs things, and runs (although slower then others). He walked at 14 months but so did my nephew who does not have DMD or BMD. So that is normal and ok for all boys. Michael';s deletion is 45-49 IN-FRAME. Another DMD boy we know just had a biopsy. His mom said it went great and was not what she thought it was going to be. I have heard that from other people too. If you are going to Dr. Wong's in July and if you do decide to to do the biopsy, have them schedule it for that trip. We are in Arizona and we were just there 2 weeks ago and now going back in 3 weeks because they could not squeeze us in before we left. We did not know Dr. Wong was going to want to do it. She made that decision after she saw him. Not sure if this helps but, we all for the biopsy.
Thanks to everyone, I'm going to conference for the first time at the end of June and Dr, Wong in July.
Hopefully we'll find out more.

Darcy
hey there
My son is 3 1/2 and has the same deletion. Glad to hear what all you son can do!!!!
We are going to see Dr. Wong for the first time this September.
Evelyn


Tamara said:
Our son's DNA results said DMD/BMD. When Dr. Wong diagnosed him with BMD she recommended a boipsy. We are going on the 8th of May for Michael's biopsy. My husband and I chose to do it becuase we want answers and all the information we can get to better the care for our son. We have not started steroids and we are not sure if we want to anytime soon. He does great, rides a bike, climbs things, and runs (although slower then others). He walked at 14 months but so did my nephew who does not have DMD or BMD. So that is normal and ok for all boys. Michael';s deletion is 45-49 IN-FRAME. Another DMD boy we know just had a biopsy. His mom said it went great and was not what she thought it was going to be. I have heard that from other people too. If you are going to Dr. Wong's in July and if you do decide to to do the biopsy, have them schedule it for that trip. We are in Arizona and we were just there 2 weeks ago and now going back in 3 weeks because they could not squeeze us in before we left. We did not know Dr. Wong was going to want to do it. She made that decision after she saw him. Not sure if this helps but, we all for the biopsy.
Hi Darcy - Our son is 7/12 yrs old (DMD) and he still rides a bike. He needs power boosts up hills as he calls them. I am curious as to what Dr. Wong says when you return in July which is now. We go to her too and she evaluates on how her patients present clinically. It could be very well though BMD if your son is not struggling with stairs - i.e. the school bus - those are especially tall and steep stairs. Does he use the gower manuver to get off the floor?
I think getting a muscle biopsy is much easier than it was in years prior. I hear it's a punch needle vs. having a big time procedure of putting the child under, incision, etc. However, wait and see what Dr. Wong thinks. She is amazing person. I have heard from another doctor who has MD that "she is encyclopedic in her knowledge." Plus, she has a great personality and great communication skills with families/patients.
One other thing I wanted to share - and that is both DMD/BMD are on a spectrum. I think parents think that wow - my boy has BMD and therefore, he won't be as effected. I know two young men with BMD and both are quite like DMD - in power chair, no upper body movement although they are older - both in their 30's. I read along time ago in MDA site that BMD is less predictable and has a tendency to have more heart related issues.
Anyway - pls do share your visit with Dr. Wong and good luck.
Char Burke

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