Jumped the gun-muscle biopsy?

laurding · May 2013

Before we do genome sequencing, they want to do a muscle biopsy. I still think they will head in that direction, but it will take some time.

has anyone ever had any experience with muscle biopsies? We go for a consult next week.

preggersINschool25 · May 2013

I was told by a neurologist that the muscle needs to be well developed and that patient needs to be 2 or 3 before they can do it. I did a little research and found a good question to look into is if they test the sample fresh on site or if it is frozen and sent elsewhere. I don't remember the significance of the answer tho.

I'm on my phone so I'm not sure how old your LO is and if any of that is relevant.

laurding · May 2013

DD is 16 months. I will keep all of that in mind when I go next week and ask all about that.

preggersINschool25 · May 2013

Keep me posted because I'm very interested. My LO is 15 months and we were discussing muscle biopsies too. I was thinking of trying to get into a mitochondrial expert. It seems like I will have to go to Ohio tho.

ETA I was told if the biopsy is taken from an underdeveloped muscle that it can lead to false positives

mightmom13 · May 2013

I have mito - right now I know that they can tell what inheritance it is from from a muscle biopsy. The one I had I do not remember and the technology was not there to tell inheritance - it was sent off by a major children's hospital and the results were never given to me or my parents.

DD has either 100% or 25% of being mito as well; a muscle biopsy from the thigh of either one of us (since I have mito) would give us this info. My and DD's shared geneticist said he would never put either one of us through that because the major treatment/following for all mito diseases (over 4,000) is about the same. They can however have different complications ranging in severity in which they treat the symptoms/causes (ex: CP).

Just wanted to share my own experience with it with you both.

pcefern1 · May 2013

My son had a muscle biopsy done to test for Duchenne Muscular Dystropy when he was about 7 1/2 months old. They put him under get general anesthesia, made a small incision in his thigh, took out a chunk of muscle for pathology and then stitched him up. The whole thing took less than 30 minutes. He did have to be NPO (no food or drink) from midnight the evening before due to the anesthesia. Then about a week later we got our results.

I'm not sure what your LO is being tested for, but that was our experience.

laurding · May 2013

They are testing for MD, although not Duchenne. Did they need to do more tests or did you have to do more tests to find out?

Thank you for sharing.

gimmietimmies · May 2013

DS has had several, the first was at 18 months. They used the sample to test for everything under the sun, mostly neuromuscular, md, rheum, and autoimmune disorders. They're going to pull another sample before his sequencing.

pcefern1 · May 2013

Sorry I just saw your follow up question!

No they didn't need to do any more testing. The pathology report we got had a clear diagnosis of Duchenne Muscular Dystrophy. We did have some lab work done prior to the muscle biopsy that showed his CK level in the 20,000 range. High normal is like 460. So that was what led to the biopsy.

Since DS diagnosis, we have also learned he has a half brother with the same disease. So we're 100% certain we know what we're dealing with.

Hope that helps. Good luck with everything!

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