Outliers - Intermediate between Duchenne & Becker MD

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Outliers - Intermediate between Duchenne & Becker MD

The reading frame rule holds true 90% of the time. There remains those 10% that does not fit dmd/bmd phenotype. There is a 3rd form that may be considered as an intermediate between Duchenne and Becker MD(mild DMD or severe BMD.

Members: 49
Latest Activity: Jan 15

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Outliers?

Started by Simone & Elias. Last reply by KarstensMom Dec 31, 2017. 16 Replies

Utrophin

Started by Eliane Khoury. Last reply by Keith Van Houten Mar 25, 2009. 1 Reply

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Comment by Melissa Engstrom on October 3, 2009 at 9:09pm
Sorry, I know about the stretching... I was reading about a procedure.
Comment by Keith Van Houten on October 3, 2009 at 9:38am
Good discussion thread on stretching here: http://community.parentprojectmd.org/forum/topics/1187424:Topic:15850
Comment by Kathy on October 2, 2009 at 11:57pm
Regina, Hi, I seen you asked about heel cord stretching if you go to Youtube.com and search duchenne there is a video of the exersices that they recomend to keep the DMD boy's stretched to prevent future surgery's because the cords get tight then the boys toe walk. The deflazacort worked well for my son, he can go alot longer with out getting tired and he is stronger. We haven't had any side effects but a little more body hair.
Comment by Melissa Engstrom on October 2, 2009 at 8:34pm
Regina,
Im in Avalon, NJ. We also see Dr. Finkle. We also saw Dr. Foley, she was great, but she is leaving for London to do research... Im kinda bummed out by that b/c I liked her so much.
Dr. Finkle seems ok. I have heard alot of people say they dont like CHOP, but I havent had any problems yet, and always get a return phone call.
I dont know what I am going to do about the steroids yet. I have to research and see if the risks outweight the benefits for my son. I know it is suppose to give me 2 extra years of walking, I dont know yet.
At our last visit, Dr. F didnt want to put him on them yet. I have noticed my son is a bit slower and more tired then a few months ago.
I was reading about something called heal-cord stretching, did you ever hear of it?
Comment by Regina on October 1, 2009 at 2:03pm
Hi Melissa--
We go to CHOP as well, and have been very happy. My son will be 8 in January and was diagnosed at 6 1/2. The Drs. called him an "intermediate" at the time, but their written reports still say DMD. We did put him on steroids last Nov. (deflaz). I have been very happy in the sense that I see little or no side effects. However, he also doesn't do anything dramatically different than he did b/f. Dr. Finkle said that we might not notice a huge difference from the steroids, since he was good in the first place. In any case, I am happy to be maintaining. I guess I will never know now what would have happened w/o the steroids.
Are you in the Phila area?
Comment by Melissa Engstrom on October 1, 2009 at 9:02am
Hi all! I am semi-new to all of this. My son has a duplication of 18 and 19. He just turned 7.
We go to CHOP. The doctors say he has a DMD duplication but is progressing like BMD. Whatever it is its still DMD. They cannot find anyone else who has his exact duplication- I dont know if thats a good thing or a bad thing. I am not sure if I will put my son on steriods. I will start doing research.
Anyway, Just wanted to say hi to everyone. Any info that anyone has and would like to share about anything, I would love to hear it.
Comment by Keith Van Houten on August 25, 2009 at 5:35pm
I believe that's true, steroids are not the standard of care for BMD. Our local MDA doctor would not prescribe steroids for my son, who he considered BMD. He said that there was no study that showed steroids would even be effective for BMD. I could not convince him - even for my son's case, who was showing significant weakness at age 8, and had a mutation that was a known reading frame anomoly.

Roxanne - will the system allow you to correct the spelling error in the name of this group?
Comment by Ofelia Marin on August 25, 2009 at 4:35pm
Thanks Roxanne. This is what I thought.
Comment by Ofelia Marin on August 25, 2009 at 11:57am
One question somewhat related. Are steroids the standard of care for BMD. I've thought that they are not prescribed to BMD patients. Probably not prescribed BMD patients with a high enough % dystrophin only since their progression might be close to normal?
Comment by Kathy on August 24, 2009 at 11:21pm
Keith, thanks for the info sounds like you been doing lots of research, glad to hear your info. I tried to research this and never did find any thing on it. I beleive Dr Wong told us last Jan that since he was out of frame with little dystrophin he was considered DMD. I wanted to hear BMD but guess it doesn't matter if it falls in the anomoly catergory.
 

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