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:
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.
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?
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.
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?
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.