My 3 year old son Ryan was diagnosed with DMD on May 29, 2008. He was diagnosed through the DNA sequencing test to detect DMD/BMD. His test results actually read "the patient tests positive for a mutation of the gene that causes DMD/BMD." He has a frameshift mutation of exon 38. The neurologist said that his mutation is not recorded in the database.
We had our first MDA clinic visit on October 3 at Duke University in Durham, North Carolina. At the visit, my husband and I were inquiring about doing a muscle biopsy to confirm the diagnosis of DMD. He said he wanted to speak with another neurologist about doing the biopsy because he does not feel it is needed. He says that because Ryan exhibits weakness at age three, he has DMD and not BMD. He went on to say that he had never heard of any boys being diagnosed with BMD at this age. I told him about this site, and about the boys that were diagnosed with Becker due to their muscle biopsy results.
Our issue is that because it is a new mutation to the database, how can he be sure that the diagnosis is Duchenne? Although we are accepting the diagnosis of DMD, we remain cautiously optimistic that it could be BMD. Does anyone have any advice for us? Should we push for a biopsy, or should we just wait until a later date? Thanks so much for any advice you have to offer.

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My son has LGMD, not DMD, and the biopsy helped us determine the quantity of several proteins that could be affected in his case. Your case seems like a very unique one so I would think that a biopsy would be beneficial.

Are you hesitant to put your son through the biopsy surgery? I was too but it was really not a problem - it was a very quick procedure. My son was 5-3/4 yrs old at that point though. Obviously there is the anasthesia issue and you should insist the anasthesiologist used have experience with the special anasthesia needs of DMD boys.
Hi Jennifer,

James had a biopsy when he was 2 and I think it affected us more than it did him. He was actually running around by the afternoon and was pretty much fully healed within a couple of days. That's the thing about my son, he is so resilient when it comes to these things. Sometimes I feel the younger they are, the better. Other times I feel, if only they'd had a few more years without all this crap.

Anyway, I agree with CVita - a biopsy can tell you so much more than a plain old blood test. If they don't know exactly what he has, you should probably do the biopsy so you can then move forward.

Sharyn.
My husband and I want the biopsy, and are comfortable with the surgery. Ryan has already been "under" twice before we even knew he had DMD. (He had ear tubes placed in February of 2007, and again in February of 2008 and his tonsils/adnoids out) Both surgeries went off without a hitch. Our main problem is that our neurologist doesn't want us to have it done. How can we persuade him to let us do it?
I'm not being facetious: if you explained to him what you wrote above, it should be clear to him why you want a biopsy. It doesn't matter that he doesn't feel it's needed----you do, and with good reason in my opinion. If he can't understand that, he's a doctor that doesn't have your needs in mind...dump him and get a new one. I've seen three of them. There's nothing wrong with you wanting to confirm the diagnosis with a biopsy. Even if your son didn't have a unique mutation, you should be able to confirm it with a biopsy if you want to. The fact that it is unique should mean it's a no-brainer.

I went through the possibility that my son had DMD first (since it is the most common form), and as you and I know, there is no 'real' way to tell from the blood test and mutation found if it is DMD or BMD. There's a pretty accurate rule of thumb, but it's in no way 100%. I, like you I'm guessing, would not be content if I didn't exhaust every diagnostic procedure available to find out as much as I could.

Jennifer Collier said:
My husband and I want the biopsy, and are comfortable with the surgery. Ryan has already been "under" twice before we even knew he had DMD. (He had ear tubes placed in February of 2007, and again in February of 2008 and his tonsils/adnoids out) Both surgeries went off without a hitch. Our main problem is that our neurologist doesn't want us to have it done. How can we persuade him to let us do it?
I thought the frame shift rule held true in about 85% of cases? And that most of the mutations where it didn't hold true were in-frame deletions that had DMD symptoms.

My son has an exon 5 mutation, which is in-frame, but with symptoms advanced for a 9 year old with BMD. The database shows a mix of BMD/DMD/IMD for phenotype. The test result said BMD, but the neurologist could not answer what that phenotype was chosen based on - probably the reading frame rule. We see Dr. Wong next month for the first time, I'm going to specifically ask her about a muscle biopsy to see if we can learn more about phenotype. My son was diagnosed last year at age 8, and in hindsight, if we knew what to look for, probably had symptoms back to age 5 or so.

Do you know which database the doctor was looking in? Utah or Leiden? I looked on the Leiden page at exon 38. I'm no expert at interpreting the results - the Leiden page is not easy to understand at all. It seems to show 9 cases reported, with a mix of B/DMD, DMD, and BMD. This is a link to Leiden, if you haven't seen it before. http://www.dmd.nl/

I have a paper on exceptions to the reading frame rule somewhere, if you're interested I'll take a look for it.
Hi Keith,

I am interested in the paper. Could you please send me a copy to echiru@lima.ohio-state.edu?

Thanks.

Keith said:
I thought the frame shift rule held true in about 85% of cases? And that most of the mutations where it didn't hold true were in-frame deletions that had DMD symptoms.

My son has an exon 5 mutation, which is in-frame, but with symptoms advanced for a 9 year old with BMD. The database shows a mix of BMD/DMD/IMD for phenotype. The test result said BMD, but the neurologist could not answer what that phenotype was chosen based on - probably the reading frame rule. We see Dr. Wong next month for the first time, I'm going to specifically ask her about a muscle biopsy to see if we can learn more about phenotype. My son was diagnosed last year at age 8, and in hindsight, if we knew what to look for, probably had symptoms back to age 5 or so.

Do you know which database the doctor was looking in? Utah or Leiden? I looked on the Leiden page at exon 38. I'm no expert at interpreting the results - the Leiden page is not easy to understand at all. It seems to show 9 cases reported, with a mix of B/DMD, DMD, and BMD. This is a link to Leiden, if you haven't seen it before. http://www.dmd.nl/

I have a paper on exceptions to the reading frame rule somewhere, if you're interested I'll take a look for it.
I would too. If you could identify the journal cite, I'll dig it up.

Ofelia Marin said:
Hi Keith,

I am interested in the paper. Could you please send me a copy to echiru@lima.ohio-state.edu?

Thanks.

Keith said:
I thought the frame shift rule held true in about 85% of cases? And that most of the mutations where it didn't hold true were in-frame deletions that had DMD symptoms.

My son has an exon 5 mutation, which is in-frame, but with symptoms advanced for a 9 year old with BMD. The database shows a mix of BMD/DMD/IMD for phenotype. The test result said BMD, but the neurologist could not answer what that phenotype was chosen based on - probably the reading frame rule. We see Dr. Wong next month for the first time, I'm going to specifically ask her about a muscle biopsy to see if we can learn more about phenotype. My son was diagnosed last year at age 8, and in hindsight, if we knew what to look for, probably had symptoms back to age 5 or so.

Do you know which database the doctor was looking in? Utah or Leiden? I looked on the Leiden page at exon 38. I'm no expert at interpreting the results - the Leiden page is not easy to understand at all. It seems to show 9 cases reported, with a mix of B/DMD, DMD, and BMD. This is a link to Leiden, if you haven't seen it before. http://www.dmd.nl/

I have a paper on exceptions to the reading frame rule somewhere, if you're interested I'll take a look for it.
I am interested in any information on this. We want the biopsy done, but the doctor really doesn'y want to do it. I would like to have some "evidence" in hand when we approach him again! Thanks everyone for all of the replies.

~Jen
Jennifer,

Let my first say how sorry I am about your son diagnosis. I debated for a long time as to weather or not I wanted to reply to your post but you did ask for opinions and though it may differ from the ones you already have here goes. Eight years ago my son was diagnosed by dna analysis. He has never had a muscle biopsy. Around that time I would have given anything to hear your son has bmd and not dmd. Looking back now after the years have gone by I wonder why that was so important to me. Call it bmd or call it dmd we are dealing with the hand we were dealt. What you call it does not change anything. I am not really sure why they even seperate it with two different names. Children with autism can vary quite a bit but it is all still called autism. There is mild bmd all the way to severe dmd but it is caused by the same thing, a mutation in the dystrophin gene.

Yes, I understand the need for a muscle biopsy if there is going to be participation in a clinical trial. I even understanding wanting one if only for peace of mind. My son is doing very well for his age and yes, I do wonder if maybe he does have some dystrophin in his muscles and that is why. I am not curious enough though to get a muscle biopsy. I just feel that I have been and will deal with what comes the best I can. What you call it in my mind is not all that important.
My son Matthias was weak at age three also, though he wasn't diagnosed with DMD/BMD until 5. At 7 we finally saw a specialist, and she recommended a muscle biopsy right away (6 months later) which showed he actually had BMD. He also had an operation at two, and it was definitely easier on him than the one at 7. The specialist who saw him at 7 said he was doing much better than expected -- even though he was so weak already at three. Matthias was premature and grew very slowly, which may be why he was so weak at three, and was actually stronger at 7. Anyway, unless there's another way (I saw a comment about MRI's being used to look at the tisssue?), the muscle biopsy should be done to be sure. Unless, like the previous comment, it doesn't really matter to you what the name is. It is true that the name doesn't control the progress, it just changes our expectations. It was easier for me to stop worrying about my son when I knew he had BMD. Basically, you need to know what is right for your family and your son, and then ask the doctors to work with you toward that goal. Hope it goes well!

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