I apologize for this vent by I must as you are all aware of the healing properties of venting...

My son has been diagnosed with DMD in March 2006. Then un-diagnosed early this year. We have no diagnoses but yet he has symptoms. They want to do another muscle biopsy but I resist. I can't let my boy go through another biopsy when there are so many other non-intrusive ways in finding it. What can they see now that they didn't see in 2006? We have all the lab results studying the muscle so the only thing I can think of is they did an error and are looking to redo. I would be pretty perturb to have my son go through another biopsy because someone made a mistake. I wonder why this happened? Are there people that have son's that have been clinically dx with DMD but cannot find there mutation using even the latest technologies? The kicker is that one type of muscle biopsy test shows DMD features (immunostaining) then another one says no DMD or BMD (Western Blot). Dr. Flanigan thinks the the DMD features is a secondary symptom caused by some underlying primary issue, possibly post transcriptional. We had to take him off of steroids because the Dr. thinks that would be best right now. He has no idea if steroids would help him or hurt him at this time. I'm hoping we did the right thing. So far it has been 3 weeks off of steroids and he seems to be maintaining his strength. He is having more cramping though it seems.

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Comment by Shellie Buriak on September 21, 2010 at 12:23pm
I understand the frustration. My son Luke who is now 8 was diagnosed with Duchennes last October. he too has no mutation found. I seen the tests you have done about the same for us. Dr. Flanigan is looking @ the Muscle biopsy still trying to fiqure it out. I don't blame you for not wanting to do a second muscle biopsy. I would not either. We even had test for LMGD to come up negative. I would love nothing more for the tests to come back something better than Duchennes. But he has many of the symtoms of Duchennes. I try to think positive but it is very difficult some days. How do you like being in the 2% that dont get a diagnosis from genetic testing? We have to think maybe just maybe they are better off.
Comment by irishgirl on January 6, 2009 at 10:54am
Marcos Dad:
I just came across your angst. Did you not have the genetic testing done? The genetic blood test is nearly 98% accurate. How old is your son and how did you find out of his apparent/or not DMD? I cannot understand your medical conflicts here and how you must be so very upset. Do you have any news since you wrote this last October???
Comment by Jennifer Shumsky on October 22, 2008 at 3:30pm
Can't offer much clinical advice, but I keep your beautiful family in my prayers. Answers are always better than questions, even when the answers aren't what we want. I can't imagine your frustration right now. The situation just stinks.
Comment by MarcosDad on October 22, 2008 at 2:19pm
Interesting article - Thanks. I see Eric Hoffman was on this study. I need to get a hold of Tina.
Comment by CVita on October 21, 2008 at 9:28pm
Wow, you have done it all. Obviously I'm at a loss - I think that's all of the LGMD's that would have dystrophin reduction as a secondary effect. I was able to find this abstract of a paper though:
http://www.ingentaconnect.com/content/mksg/cge/2005/00000068/00000001/art00014

"Sixty percent (11/18) of patients with decreased quantities of normal molecular weight dystrophin showed no mutation, but most of them had a family history highly suggestive of X-linked inheritance, suggesting transcription or translational deleterious affection, i.e. outside what was screened. Quantitative multiplex fluorescence polymerase chain studies of mutation-negative patients showed normal levels of dystrophin mRNA. In three patients, there was some reduction of the transcript suggesting a deleterious undetected gene change resulted in the reduction of RNA levels."

Best of luck to you and keep us posted.

I'm still trying to help my cousin, in his early fifties, find out which MD he has. He's had symptoms since he was a kid and obviously has a very mild type but is having quite a bit of difficulty now.. he's been through a battery of tests for the past 20 or so years, all are negative, and he STILL has no dx. Of course, his insurance is balking at paying for some additional testing so he has other difficulties in trying to get an answer.
Comment by MarcosDad on October 21, 2008 at 6:53pm
Thanks CVita,

I see you are very knowledgeable in this area. We did it all. The Docs are itching their heads in confusion.

Here's the order of events and the results...

Muscle Biopsy
Immunostaining results showed no dystrophin 2 & 3 staining, characteristic of DMD, thus dx as DMD
Plasma DMD DNA Dup/Del test at Athena - negative
Plasma DMD DNA Full sequencing at Athena - negative
Western Blot at Athena - 50% levels of normal weight dystrophin
Immunostaining done again at CHOP - same results as first immunostaining
DMD cDNA analysis from muscle tissue at Dr. Kevin Flanigan's lab - no mutation found
Improved Western Blot Test done by Dr. Flanigan in France - 50% level of normal weight dystrophin
Emory did DMD full sequencing on their new DMD chip array using saliva - no mutation found
Sarcoglycans, dystroglycans, and FKRP tested at CHOP using plasma - no mutations found
LGMD full eval done at Athena - no mutations found
Comment by CVita on October 21, 2008 at 1:11pm
It does seem that the WB and immunostaining are contradictory with no real way of determining which is wrong. Am I understanding it correctly: did the immunostaining show no staining for dystrophin and the WB had a full dark line for the dystrophin. i.e. no reduction of dystrophin?

Because if there were no staining under immunoblot and a faint line in WB that would mean there is some dystrophin present but not enough to show under the less accurate immunoblot procedure.

Also, you don't mention the blood work... they were unable to find a del/dup or point mutation? They did a full sequence analysis?

I agree with you, there are more things to do before another biopsy....Do more bloodwork - either send it to another lab for analysis - Athena were good for us. Also, have them do the blood analysis for Limb Girdle MD. They can test for several of the versions with the blood and as the genes are smaller it doesn't take as long as the dystrophin test. What are his CK levels running at and what are his symptoms. My son was originally thought to have DMD but only because of symptomology, CK and the fact it is common. His symptoms were not major and his CK was not at the very high level that DMD usually is. The blood tests were all that were needed to verify a form of LGMD. We eventually had a biopsy to confirm and to maybe get a hand on his prognosis but the Dr.s were very eager to biopsy right away. I can understand your reluctance to do it again, definitely.
There are also some other blood tests for antinuclear antibodies to see if it is another type of disorder with similar symptoms - polymyositis, etc. I'd love to be able to help you, it took us 8 months to get the correct diagnosis - I can't imagine what you're going through for this long.
Comment by Amy Kendrick on October 20, 2008 at 12:04am
I too was told that Lane DID NOT have MD after his first biopsy at the age of 17 months. Later we found out that they did not request the correct staining for dystrophin. When I found Dr. Wong later that year we ended up having to do it all again. His records had stated fromthe first biopsy that a piece was frozen but that was found to be false as well. His blood tests had come back negative which I belive this test is only 60% conclusive. Dr Wong tried to get around having to do another biopsy but it was the only way to know for sure. even his CK levels tested more like Becker. When we received the results however it showed he had no dystrophin. When his blood was sent to Dr Flanigan his lab could not find the mutation it was then passed on to a doctor in the Netherlandfs that did end up finding his duplications.

I so feel your frustration...I do remember that Dr Wong did go over and above to make certain that we got results..if you like I can go back through my records for more details..this all happened back in 2002 and 2003.
Comment by Julie Garcia on October 18, 2008 at 11:15am
I feel your frustration. I don't understand why they can't find anything. Is there anything left from the original biopsy? Have you checked in with PPMD to see if there is any other resources available. I know Flanigan's lab was the main lab but there are other labs being recognized. I will be seeing Nick's Shriners Dr. next month and see what I can learn. My heart goes out to your family and I hope you find out soon what is going on with your beautiful Marcos.

Please keep us posted.

All the best,

Julie

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