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Should we have cpk retested before DNA testing?

Wondering if anyone has had or heard of someone being diagnosed with cpk levels in the 5000 range. My 14 month old was just found to have a cpk level of 5749. The neurologist didn't really give us any other possibilities, and now we are waiting for a DNA test. While we wait we are anxious/confused/scared. Some background on our little guy: around 10 months he was diagnosed with decreased muscle tone. He couldn't sit up from laying, crawl or pull himself up to stand at the time, but could sit well on his own. Since then we have done PT and he is making progress. He still can not sit up from laying down, or crawl but he is trying to do both and he can pull himself up, cruise along furniture and walk with a push walker. He has great fine motor skills. He was referred to a neurologist by our pediatrician to rule any other problems out. EEG and MRI came back normal. The only abnormality was the CPK. There is no history of MD in my family. We are also wondering if we should be retesting his cpk or possibility getting a second opinion while we wait for the DNA test, I feel like there has to be something we can be doing while we wait the 4-6 weeks for results. It seems that anything we find on CPK levels and MD is in the 10,000 or higher range.
Thank you in advance for any help or insight you can give!

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Permalink Reply by Andrea Cleary on September 27, 2013 at 10:48pm

Hi Diana,

If you feel that another CK level would help settle your mind about possible lab error or whatever, then ask for it. But remember that CK can rise with any muscle problem/damage, so it's just the beginning of finding the exact issue. CK can be roughly 10-100 times the normal value (<200), so your neurologist cannot rule out DMD based on a value in the 5000's.The DNA results should give you the final answer, though we all know how difficult it is to wait for those...it's agonizing. And occasionally there needs to be further investigation. And we don't all fall into a nice neat category either.

In about 1/3 of DMD cases there is no family history because it's a spontaneous new mutation, which can either happen in the child or the mother (who is a carrier). That is my case, I am the first mutation in the family and am thus a carrier. My oldest, who is 13, has DMD and my youngest, 10 does not. The youngest boy was already born when the oldest was diagnosed, so he also had a 50/50 chance of having DMD, but does not.

One step at a time, Diana. Don't get ahead of yourselves by doing research on the internet right now, that will only sap your energy. You probably feel very alone and scared, but we have all been there and can walk the path with you.

Andrea

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Permalink Reply by Andrew Kerr on September 29, 2013 at 12:26am

Hi Diana,

We're all hoping the DNA comes back negative, but a CPK in the 5000 range raises a lot of questions. I think normal for a boy is 100 or so. You certainly could have another CPK, but you won't really have an answer until the DNA comes back.

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Permalink Reply by Donna on October 1, 2013 at 11:52am

I believe the CPK level will be reported again at part of the DNA testing. Our son was diagnosed at the age of 5. His CPK if I recall was around 4,500. I was told, and fought it of course because I was trying to rationalize it, that anything over the norm is still cause for concern whether it was 4,000 or 40,000. There also was no family history on our end. He also has a stop codon mutation at exon 58 - I have yet to find anyone with that. I would agree with the others, if you want another test, ask for it, but you will get it again with the DNA testing. I'm sorry you are going through this. Unforatunately, most of us on this website has as well. Take one day at a time.

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Permalink Reply by Maggie on December 9, 2013 at 5:12pm

We are still waiting on genetic testing results too. My son is about to turn 5 and last week had an MRI and blood draw. His CK came back 7,500. I wondered the same as you, but I have since seen stories of some kids who were diagnosed 5,000-8,000 unfortunately. I guess everyone is different. We have no history either. My son has been late on every single milestone and still isn't running/jumping. Sadly, the more research I do, the more it seems like DMD is the most likely cause of all his symptoms. This disease is so blindsiding, and 4-6 weeks is an agonizingly long time, I am right there with you.

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Permalink Reply by Diana on December 9, 2013 at 7:42pm

Thank you all so much for your replies. We received our son's DNA test results just before thanksgiving and he is positive for either BMD or DMD, we are waiting to hear back from his new neurologist and his team which includes a genetic counselor, they are searching his certain mutation (he has no deletions or duplications, he has a point mutation) to see what it has turned into in other boys since he is so young and right now does not show any physical signs other than delayed walking.

And yes we did have the ck retested it was slightly lower the second time so our pediatrician ordered it a third time, that time it was in the 8,000 range.

This has been the hardest and scariest thing that I have even gone through, but I am amazed and glad for sights like this where everyone is so supportive and helpful!

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Permalink Reply by Frankie Butler on December 9, 2013 at 10:39pm

Hi Diana,

I just wanted to say that I'm glad the waiting part of this is over for you (we are still there). I know you still don't know exactly what to expect, but answers of any sort are good. We had a CK of 1990 and then 2100 which is right on the borderline of 10 times normal.. I understand. Shouldn't be too long for us now. Sending you hugs and xxx in this difficult time!