I had my muscle biopsy yesterday. I have to wait for the results, which I won't get until late January as I'm going away for two weeks early in January. The doctor told me he may not be able to give me a diagnosis, but the muscle biopsy would tell him a lot. I hope he will be able to tell me something, so I know what I'm dealing with. At least then, I could try to educate myself as to what's happening. Everyone is so vague and not too eager to answer questions. I wondered why he did the biopsy on my good leg rather than on the weak one. Anyone have any ideas. I asked the doctor, but he didn't really answer my question.
I've talked about my own biopsy before but in short, the biopsy will reveal a few things. In my case it showed cell necrosis (random patchy dead muscle cells), ragged fibers and rimmed vacuoles (both signs of un-healthy muscle tissue). The worse these signs, the more progressed the MD. Also, they can do stain tests on the tissue. Certain chemicals will turn certain colors, indicating a specific disease. It's important to realize that each muscle stain test can cost hundreds of dollars! They won't run every test they know of....just a few that are very likely candidates. I've had 5-6 done, 3 were part of a free study at the NIH in Washington DC back in 2005. Every stain so far is negative. My MD is still an unknown type of LGMD but the clinical diagnosis and the microscopy of the tissue DO confirm I have some sort of MD. My biopsy report took about 3-4 weeks back in 2002.
Also there are tissue stain tests for only part of the known MDs. Maybe 30-40% if that. DNA blood tests are another unrelated diagnostic tool. Ask your doctor about getting ANY that you might suspect. Insurance will cover most if your doctor deems it necessary. Best of luck!
PS - Did your biopsy hurt? I had 4 pieces taken. The first 3 did not hurt. the last one I just about passed out. He hit an un-frozen spot of tissue! OUCH!
Mark, thanks for all that information. I'll be on the lookout for what showed up in your biopsy when I have my meeting in January. He only put the needle in one area and the needle hurt. After that, all I felt was a bit of pressure. I have one stitch and I was given sterile scissors and tweezers to remove it myself in six days. I will probably be like you and still not know exactly what I have. My mother was told she had polymyositis (I'm starting to doubt that as the first neurologist I went to told me that was not my problem, assuming it's genetic). She went from weak legs to cane, walker and finally a wheelchair. By then, she was in her eighties. However, she lived downstairs for many years as she couldn't get up steps. I have a copy of my grandfather's death certificate (mother's father). It says one of his ailments was muscular atrophy; obviously undiagnosed. I have a feeling they both must have had some kind of MD. My mother was put on prednisone, but I don't think it had any effect.
The first neurologist ordered a DNA test. It was either normal or they didn't do it. My family doctor told me there was one test they weren't able to do. She didn't say which one. My fault, I should have asked.
Wow...........I had a 3 incher cut when I had my muscle bio done back in 1993,,,,,,,now they can't find report or frozen muscle so I'm looking at another one. They will put me out for this one or ELSE.
I think they give vague answers because their findings are soooo vague. These are such complicated diseases and so many different kinds.
I hope your muscle heals up fast and you get the definitive answers you need and want.
I have a MITO, still do not know which kind yet but I think MERFF. Going to Atlanta soon.
FORGOT: the reason I'm back on this subject is because I DID NOT BELIEVE THEM IN 1993, but now with progressive disability and so many dead ringer symptoms, I"M GETTIN IT.
Last edited by Snickers60; 12-15-2008 at 11:50 AM.
I'd recommend a new biopsy. I DO have a Dysferlin deficiency, but it is only slight. (Myioshi Myopathy and LGMB2B both are due to absence of Dysferlin. I have some but not a complete absence). This made my stain results confusing then we figured it out....that I have something REALLY weird. Yippeeee!
Dysferlin was not discovered until 1998. Staining and DNA tests have come a LONG way since 1993. Talk to your doctor about it. I never let up.
Good luck. PS - Hope you're still enjoying your Pride Victory 10. I love mine!
Snickers, you really had the works. Mine was done with no cuts. I was given a needle to freeze the area and then an apparatus (I didn't see it) was used to suck muscle through a small tube. I heard him say at the beginning to his assistant that the first they got was fat. Apparently, this is a much easier method than cutting as I was sent to a teaching hospital in another city to get it done. Hope that you can have yours done that way if you have to get it done again. It is still sore, but not invasive like cutting. Like Mark, I was limping for a few days and am still not too swift on my feet, not that I am at the best of times. Cheers