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.

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Latest Activity: Jun 24

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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 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 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 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.
Comment by Keith Van Houten on August 24, 2009 at 8:07pm
In frame / out of frame is not a determining factor in determining DMD vs BMD. This group should probably more appropriately be called "Reading Frame Anomolies". That's really what an outlier is. Your son is a reading frame anomoly because his out of frame deletion would be expected to produce DMD, but he's progressing like a BMD phenotype. My son is a reading frame anomoly because his in frame deletion would be expected to result in BMD, but he's progressing as a DMD pheonotype. One study of the dystrophin gene mutation registries showed that 7% of cases were in this reading frame anomoly group.
Comment by Kathy on August 24, 2009 at 7:29pm
Keith, hi sorry to hear your son is progressing like DMD, our local MDA clinic said most likely it's BMD because of his presentation, they didn't even look at the results of the biopsy that a Rhematolgist had ordered when we were trying to figure out why his liver enyzmes were so high, and he was 8 with little signs of DMD. Our main reason for going to Wong is because I didn't like the way our local MDA was so non-chanlant on his diagnosis. This Dr told us to go home let him be a kid and see you in a year. I beleive Dr Wong is proactive and knows that eventually BMD will have the same issues as DMD. And early treatment with Steroids and night splints and streching will prolong the ill effects of this diease, be it DMD or BMD. I think you have to go on the deletions and if its inframe or outframe to know if it's BMD or DMD. I didn't get a measurment of dystrophin from our biopsy, it just said little found on the report. I sent all the info to Dr Wong and she says DMD outliers. He tires easy but can do just about any thing a normal kid could do.
Comment by Keith Van Houten on August 24, 2009 at 6:14pm
Do you know why the local clinic made a BMD diagnosis? What was that based on - physical presentation, dna result, registry info, muscle biopsy, etc?

Our local clinic only considered the in-frame result, called it BMD, and didn't recommend any treatment other than stretching. Dr. Wong looked at the bigger set of info, called it DMD, and added the steroids and night braces.

We're on the other side as an outlier - his in-frame deletion would normally produce BMD, but he's progressing like DMD.
 

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