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,
What I understand is that in frame deletions result in BMD which is much more manageable than DMD. Check the link at http://www.actionduchenne.org/duchennepedia/article/26/in-frame-and...

Can you also share the exact deletion in terms of which specific exons are missing
tulika, thanks for the link...i am told that there could be about 10% of in-frame deletions result in DMD..my son has exons deletions of 6 thru 29.

Not all in-frame deletions (at the DNA level) result in BMD. 

In-frame = BMD is what the "reading frame rule" would say, and one study showed that that rule held true in 91% of the cases in the Leiden database.

 

link

right...keith...i guess what interests me most now is what kind of supplements people are giving their sons along with steriods (i take it for granted that steriods would be started now that he is 7 and showing symptoms..irrespective of whether 'technically' he is of what phenotype...our first mda clinic appt is on march 4)...also is anyone with in-frame participating in any clinical trial and how is the progression of symptoms....thnaks
Take a look at this website for supplements...
thanks...that leads to the question: is anyone taking the myojett supplements?
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.

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.

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.

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.

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.

Perhaps our children will soon be available to multi-exon skipping. You do not have information that there is some research in this direction?
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.

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