I have a son who was diagnosed with dmd. But, we never had the muscle biopsy. Just wanted to know you all mutation and whether you had it confirmed with a biopsy. How'd you all know you had bmd if it's supposed to be so mild anyway?
Thanks.
Char Burke

Views: 205

Replies to This Discussion

Hi Char: We have 2 boys w/,.BMD (very mild). It was a fluke Dr.found it. We did have biopsy done (waste of time). Call Dr.Flanigan's office (Utah) to get DNA dystrophin sequence done (just a blood draw) and get it sent to him. It may take 2-3 months but WELL worth not getting him cut.

My 2 boys (and wife) with point mutation (Stop Codon) Exon 1, point 3.. I also have twins (the boy does not have mutation and the girl has not been tested yet).

take care - Jeff
My son was diagnosed with a genetic test stating he has an in frame deletion of exon 13. He doesn't have any clinical symptoms to date (he is 2), except he has had cpk range from 3000 - 10000. From my understanding muscle biopsies were more of a thing of the past, because now they have advanced in genetic testing.
Exon 5 deletion, no biopsy. Diagnosed due to muscle weakness.
Michael's deletion is 45-49 in-frame. His DNA report said DMD/BMD. So that was no help at all. We had his biopsy done and I think it was worth every bit to do it. We confirmed his dytrophin level was in the range at 20%-100%. This meant mild/moderate Becker. To us, we finally had an answer instead of guessing going off symptoms or exons. Michael's "cut" is 1" long up on his high thigh and no one can see it unless he is in his underwear. He did fine, and wanted to play right away afterwards. He has no problems with it at all. We went to Cincinnati to have it done. Didnt want any mix ups or problems here in Phoenix.
I know the last post here was a long time ago but I wanted to add something in case it helps anyone.
My son's genetic testing showed he has an in-frame exons 45-48 deletion, diagnosed with Beckers MD.His CPK blood test showed elevated level of 19,530 which is consistent with Beckers MD. My genetic test also showed I am a carrier. thankfully my other 2 boys' tests came back negative. We didn't do the muscle biopsy as there was no need.
We found out unexpectedly, as I orginally took my son to a neurologist for re-evaluation of Aspergers, and the neurologist who is working on a research project at Children's Hospital in Boston, Ma and asked if he could do blood work as part of that research (they are trying to find a genetic reason for autism).this is how we found the MD, although many things make sense now in terms of my son's tiredness, clumsiness, and muscle weakness compared to his peers.

My son Hayden age 5 was diagnosed with Beckers on 11-20-14 by Dr, Wong, he has a nonsense mutation in exon 28.  Diagnosis was based on his physical test, cpk test, and family history. We are going to go back in a couple months for a muscle biopsy.  I know this threat is old, but thought I would post anyway.

RSS

Need help using this community site? Visit Ning's Help Page.

Members

Events

© 2018   Created by PPMD.   Powered by

Badges  |  Report an Issue  |  Privacy Policy  |  Terms of Service