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: 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 Kathy on August 24, 2009 at 5:10pm
Keith, Yes Dr Wong said it was DMD because of the little dystrophin and being out of frame, but said his deletions tend to be on the mild side so she was saying it was an outlier. Yes Wong did put us on Deflazacort, and the night slpints and stretches. She was going to treat it the same as any other DMD case.
Comment by Keith Van Houten on August 23, 2009 at 9:10pm
Kathy - so, did Dr Wong give you a phenotype of DMD? Did she put your son on steroids and start the night splints, or the local clinic that called it BMD?
Comment by Kathy on August 22, 2009 at 11:35pm
I was told by Dr Wong that my son in an outlier, he has an out of frame deletions of 3 to 7, My local MDA called it intermediate or Beckers. So I have heard different things. My son is 9 and I had no idea he had MD until I took him for a ADD testing, his cpk was 6000. We also did a muscle biopsy and genetic testing to make sure the Dx was correct. The muscle biopsy reported very liitle dystrophin but did not give a percentage. My son has very mild symptoms, mostly tires easy, now that he has been on Deflazacort for 6 months, Dr Wong told us last week his timed tests were that of a normal child, we were very happy to hear that.
Dr Wong wants us to stay proactive and keep up the stretching, swimming and night splints. And we pray that he can enjoy being a normal child for a very long time.
Comment by Ofelia Marin on June 10, 2009 at 9:18am
Hi Michelle,

That is all correct. I was thinking in terms of BMD. Patients with BMD, biopsy showing a decent % dystrophin and low CK. I assume that they are the ones with a slow progression? I did read about some cases where they were diagnosed very late in life and their CK levels were not in the hundreds, but they were in the low thousands ... not like our sons. For DMD I do not think that CK levels have too much relevance...we already know that they have very, very limited dystrophin expression unless something else happened (natural exon skipping etc.). So when there is very limited % dystrophin the progression might be slower but we are not talking about walking in the 20's as in many BMD cases.

Ofelia
Comment by Kelvinsmom - Michelle on June 9, 2009 at 8:40pm
I had a doctor recently say that they are starting to "ignore" CK levels once there is a diagnosis (doctors in Columbus), because it can mean so many different things. I was initially told that it is "good" that Kelvin's CK levels are high (told by doctor in Columbus), as that means that there is still a lot of muscle left and Kelvin is one of those kids, who they aren't sure where he fits yet, but different doctors have looked me in the face and said that his deletions, even though out of frame, are those of children who can remain in "good" shape for a long time. What that means, I have no idea and well, I can't imagine the doctors know really either, probably typical or just going on how he is doing. Time will tell. Michelle
Comment by Ofelia Marin on May 15, 2009 at 10:25am
I would think that if there is a good enough % of functional dystrophin produced the CK levels are much lower. At least this is what they see in their preclinical studies testing those compounds, a reduction in the CK levels when treated. But those are not results in humans... It would be interesting to know the CK levels of boys with biopsy done and classified mild-moderate Becker. Are there any on this site?
Comment by Regina on May 15, 2009 at 10:05am
Hi Keith--
Jordan's official diagnoses is dmd, but they are cautiously calling him a mild phenotype. I'm waiting for the written report from our 6 mth visit last week, but from what I can gather it's b/c of his strength and overall function at this point. I told the doctor at his first visit last August, I don't care what they call it, as long as he continues to do as well as he seems to be now. My most recent worry is that high cpk though. He's had no decline in function over the last year, but I worry that that level means his muscles are being damaged quickly.
Comment by Keith Van Houten on May 15, 2009 at 9:28am
I don't think CPK level can tell you anything conclusive about phenotype, nor the fact that there's no cognitive issues. You're right, 20,000 is high.

Do you know why he was diagnosed as intermediate if he has an out-of-frame deletion? They may done that based on information in the patient outcome registries - or - based on his strength level for his age.
Comment by Regina on May 14, 2009 at 8:26pm
Hi-- my son has an out of frame deletion at 8-11. He is seen at CHOP but we are waiting for an appt. in Cinn. The drs. call him a "intermediate/mild DMD." No muscle biopsy was done. He is almost 7.5, and seems to still be fine at this point. My question is, what about the CPK level? Does it matter what it is? His was never completely checked until last month, and it is 20292. That seems very high, but his strength tests are all good. Has anyone seen that # come down with anti-infammatories like the co-q10? My son has been on it for almost a year, but since I don't know what the CPK was when he was diagnosed last june, I don't have a comparison at this point.
Jordan has no cognitive/behavior component, and always met all of his infant milestones-- there's no correlation for any of that, is there?
Comment by Kelvinsmom - Michelle on March 18, 2009 at 5:42pm
We are joining this group, but we are out of frame, that could possibly be more of a Becker Phenotype, which may put Kelvin in Outliers. I am curious as to how many kids on here on in that position, where they are out of frame but could be Becker. Doctors are much, much more careful in this direction, as opposed to being in frame but with a DMD Phenotype. I haven't really seen kids on here that are confirmed Becker, but are out of frame. Maybe there are, but haven't noticed. I'd love to hear from a parent of a child who is. Michelle
 

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