My son is 22 months now and was diagnosed 6 months ago. He has deletion of exons 3-30, that is in-frame. But because he is missing nearly 1/3 of the entire gene and he misses the beginning, doctors associate it with Duchenne. My question: is this group OUTLIERS for such cases?? He is so young, so we can't know by now how he will develop. Thanks, Simone

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Elias is on deflazacort for 1 1/2 years now. He has no problems with weight but is very active and doing sports nearly every day. I think weight problems will start when he will no longer be able to move in that way. He does not take Emflaza (takes CALCORT which is deflazacort available in Europe/Germany). We asked our neurologist to change to emflaza but in his opinion this is not necessary because all the deflazacort tablets are nearly the same?!?
I cannot understand why this other neurologist gives a becker diagnosis?! When you look at the official Leiden database and entering in-frame 3-30 this is definitely Duchenne.
How old is Karsten now? And still developing?
3-30 should actually be BMD because it is in frame. We only got our confirmed DMD diagnosis once we had a biopsy and western blot test. We have chosen to not take steroids. Ryker has been in the CAT-1004 clinical trial for for 15 months and is doing very well. He has gained new abilities and is surpassing strength and endurance that he had prior to the drug. We were also told that his left ventricle was thinning and would need to start an ACE inhibitor prior to starting the trial. At our last visit to the cardiologist (after being on the drug for 8 months) his ventricle thickness is now normal and there is not need to start the ACE inhibitor.
We are moving into phase 3 of the trial now which will take an additional year and then we are all hoping for the drug to move in front of the FDA. Thankfully this drug is not mutation specific and there have been no side effects (besides minor diarrhea when first starting the meds).

She based it on the fact that his deletion was inframe and his physical progression.  She believes he is still producing dystrophin (even though we have never done a biopsy).  He is still walking, running, jumping.  The steroids improved his endurance.  Just this month he began to wear inserts in his shoes.  He was falling so much at school the physical therapist said the inserts would help.  He is getting used to them and does seem to have better balance, they have definitely improved his posture.  He turns 11 in February.  

Simone & Elias said:

I cannot understand why this other neurologist gives a becker diagnosis?! When you look at the official Leiden database and entering in-frame 3-30 this is definitely Duchenne.
How old is Karsten now? And still developing?

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