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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OMG, I am so glad that I found you!  My son is 14 months old with exons 3-30 (in-frame).  I just got his diagnosis last week.  Please give me more information, I will take anything.  How is your son doing?  I am so confused about our "cautious" Beckers/Duchenne diagnosis.  We have a follow up with the neuromuscular specialist on Thursday to get more information.

Brooke, I sent you a request for adding me as a friend. Please accept so we can write personal Messages. I live in Europe/Austria and it's late evening here right now. I will come back to you tomorrow so I can give you all Information we were told (and I learnt on my own) by thursday when you have your next appointment at doctors..... HUGS - Simone!



Simone & Elias said:

Brooke, I sent you a request for adding me as a friend. Please accept so we can write personal Messages. I live in Europe/Austria and it's late evening here right now. I will come back to you tomorrow so I can give you all Information we were told (and I learnt on my own) by thursday when you have your next appointment at doctors..... HUGS - Simone!

My son have 4,5 years old ,hi heve this same deletion 3-30 in frame.

Yes.  An outlier is someone whose phenotype (how they present physically in clinic, i.e. their symptoms and progression) differs from what's predicted by their genotype (what their mutation is).

In simpler terms, in general, an outlier is someone with an out of frame deletion that progresses on a becker path

or

someone with an in frame deletion that presents on a duchenne path.

My son was accidentally zdiagnozwany two months ago, has thickened calf, has trouble climbing stairs but it is independent, has a speech delay, runs, has good muscle tone, no contractures, it normally does not have a protruding chest looks healthy boy

My son was accidentally 

diagnosed

two months ago, has thickened calf, has trouble climbing stairs but it is independent, has a speech delay, runs, has good muscle tone, no contractures, it normally does not have a protruding chest looks healthy boy

Hi Emilia, I just saw your message. It seems we live "near",we are from Austria. If you like you can send me a personal message. It seems this deletio 3-30 is not so rare - we are 4 here on ppmd with this mutation....
Feel free to contact mecq
Feel free to contact me whenever you want. Our little boy is doing great as well - he will turn 3 in may,has problems with stairs but everything else seems to be fine at the moment.


My son does not know how to jump, ladders enter yourself and efficiently, getting more talk masseuse comes to us and trying to rub it, if your son speaks well?
Simone & Elias said:

Feel free to contact me whenever you want. Our little boy is doing great as well - he will turn 3 in may,has problems with stairs but everything else seems to be fine at the moment.


Is there an older boy with the same mutation?
Simone & Elias said:

Feel free to contact me whenever you want. Our little boy is doing great as well - he will turn 3 in may,has problems with stairs but everything else seems to be fine at the moment.


Do outliners go on steriods eventuly and what is the mean age do any of ur boys suffer with behaviour pr8blemd 
Keith Van Houten said:

Yes.  An outlier is someone whose phenotype (how they present physically in clinic, i.e. their symptoms and progression) differs from what's predicted by their genotype (what their mutation is).

In simpler terms, in general, an outlier is someone with an out of frame deletion that progresses on a becker path

or

someone with an in frame deletion that presents on a duchenne path.

I've come back to post here because another neurologist has given Karsten a definite Beckers diagnosis.  She bases this solely on his genetic tests (in frame deletion exons 3-30).  Up until just a year ago we were living with the Duchenne diagnosis, then the "Intermediate" diagnosis.  

I'm wondering what (if any) steroids you are giving your boys.  Karsten has been on Deflazacort for three years now.  5 months ago the FDA forced us to change drug makers to Emflaza.  In those 5 moths Karsten has put on 10 pounds and has developed "moon face".   I am saddened by the change is his sweet face and his body, he is too.  He sees how he has changed in such a short period of time.  Why are these side effects just now showing after three years?  Is there something wrong with the new Emflaza drug?  

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