My 7 yr old son has an in-frame deletion and diagnosed as DMD. I am interested in finding out how many families have sons that have an in-frame deletions and have been diagnosed as having DMD. From what I understand, about 10% of all DMD cases may have in-frame deletions. I am primarily interested in learning about when/at what age your son started on steroids, supplements, progress, any trials that he may be participating in, or any other relevant information. Thank you.

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Amit, Try this link        http://www.dmd.nl/DMD_deldup_Leiden.html

amit gupta said:

jackline, thanks for the info...although i was not able to get the two cases through the link you posted..that database seems a bit complicated to understand and sort....but from what you wrote i understand that you are trying to say that deletion of 10-44 and 2-43 are reported as BMD...

 

no we haven't had the biopsy..our first MDA clinic appointment is in a couple of weeks...

i am wondering if any in-frame boys are in any of the trials...

Jackline H. Johannesen said:

My son's neurologist says larger in-frame deletions most often lead to DMD. But on the Leiden pages you can see this doesn't always hold true, please check this link:

 

http://www.dmd.nl/DMD_deldup.html

See fx. Japan - deletion of exon 10-44 (35 exons) and USA - deletion of exon 2-43 (42 exons)

 

I have been told that in BMD there is some dystrophin present in the muscles, but in DMD there is none dystrophin. Has your son had a biopsy done?

 

To Jitka: My son (4 years old) has an out-of-frame deletion of exon 8-28, much similar to your son. If the exons skipping trials will result in a treatment, then skipping of exon 6 and 7 will restore the reading frame - and this should comply with an in-frame deletion of exon 6-28 - and hopefully lead to a more Becker-like course of the disease.

thanks jitka...putting a 7 month old boy on steroids sounds a bit too early...but i guess neuros know better.
and no i don't know about multi-exon skipping
You said 7 MONTHS old and taking steroids???

Jitka Reineltová said:
Hi Amit, my son is seven months old, is on steroids, yet has no problems. Muscle biopsy was done to him, rather the DMD, but a neurologist can say with certainty.

amit gupta said:

hi jitka...my son has 6-29 missing...similar to yours...

what report are you referring to? also how old is your son and is he already on steroids?...did the doctors confirm him as DMD or intermediate DMD/BMD? was any biopsy done?

 

thanks.

Jitka Reineltová said:

My son has a deletion of exons 8-30, does anyone have a similar mutation? I found this great report on the deletion. Sorry for my English.
Our son is seven months old, but does not use steroids. It has no treatment. Doctors are not consulted so far nothing, yet is probably still too small.

Hi -

 

My son, Alex is 11-1/2 and is missing exons 8 - 19 and i believe he is in-frame.  He was diagnosed 6 years ago at age 5 and has been on Deflazacort for 5 yrs.  He is doing very well, no decline at all, still very mobile, walks and runs, but does ride scooter at school.  I don't think exon skipping will help Alex.

 

He is not in any clincial trials.  He takes the following, deflazacort, Metadate (for focus issues), ace inhibitor, calcium, Vitamin D, CQ10, an Protandim.

 

Good luck to you.

thanks kim...deletion of 8-19 does lead to in-frame...and i am very glad to know that he is doing very well...since you go to dr wong, did she recommend any biopsy to see if any dystrophin was present?

did he have any growth issues? how tall is he now? does he wear night-splints...i am guessing you are continuing the streteches...how about at school...anything special for him? we are worried about stairs and such...did you request any 504/IEP? i am not familiar with metadate...

yeah...the exon skipping is not likely needed...did dr wong say what could be the closest next thing for treatment for him?

thanks.

Hi - We have not done a biopsy nor have talked to Dr. Wong about it. I am getting back into research so we are looking at all of it right now.

Yes, he wears night splints every night but we alternate legs so that he only wears one a night. He has been wearing them for about 5 years. I also stretch him every night. Metadate is for focus/ADD issues.

He is on an IEP at school and has been since k-garten. He has been in Adaptive P.E. since the beginning too. For the past 2 hrs he has ridden his scooter to school. Our school has been great to him. I know not everyone can say that. We have been lucky.

We lived in a 2 story house when Alex was diagnosed but sold our home and moved into a one story. The housing market was booming then and it was easier... I agree...stairs are not good for their legs. We avoid them whenever possible.

Kim
My son (9 years) has a deletion of 8-31.  

Jitka Reineltová said:
My son has a deletion of exons 8-30, does anyone have a similar mutation? I found this great report on the deletion. Sorry for my English.
Jitka- Jonathon is out of frame.  He was dx 2 years ago.  He has been taking the deflazacort since 9/09.  He also takes vit D and coq10.  He seems to be doing well.  We are religious with his stretching 2x daily.
thanks, kim....muscle biopsy was just a curiosity on my part for in-frame cases...not sure if it changes anything in terms of meds/trials, etc...those are primarily driven by symptoms, right? did your son grow in height at all after the deflazacort? we have been looking into one story homes as well...not easy to find in the same school district...

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