I recently had genetic testing done for Myotonic Muscular Dystrophy Type 1 and the results were negative. Seeing that I do have some sort of neuromuscular disorder, my neurologist says the next step is to have a muscle biopsy. Then with the results of the muscle biopsy, my neurologist will know what route to go for continued genetic testing.
Please share your muscle biopsy stories. What questions should I ask my neurologist regarding the procedure and follow up care?
I have had one. In a nutshell: I went to the local hospital and checked in as an out-patient. I changed into a gown and they put me on a gurney. I was wheeled into a small O.R. or more like a treatment room that you'd see in an emergency room. The doctor sterilized the area; my right thigh. He then injected the muscle with Novocain (or something similar) to make it numb. After a short while he inserted a device with a long hollow needle. About the size of a thin straw. This device clips off a piece of muscle about the size of a pencil eraser. He went in at 4 different angles and took 4 pieces. My leg was very sore for the rest of the day which Tylenol took care of. For the next 3-4 days it felt as if I had a bad bruise, like I had been kicked hard in that spot. Nothing too terrible.
The samples are used for various tests: Microscopy, where they look at it under a microscope to see if the cells are small or damaged. They should be plump and healthy. Or they can stain, where they put drops of chemicals on the tissue. If it turns a certain color they can determine if specific proteins or enzymes are missing. There are other tests called Western Blotting and probably others that I don't know of.
Usually 2 or 3 pieces are left over and can be frozen for 4 or 5 years if new tests become available.
Hope this information helps. Good luck!
PS - Let me add: ALWAYS ask your doctors for copies of all test results and clinic notes. I've got a file full of mine in case a question ever comes up or if I see a new doctor.
I have had 6. From 1975 to 2011 I learned what I didn't have. I went to over 10 neurologists at different hospitals and was misdiagnosed till I found a Dr. Who was sure I had a specific, even though the biopsy said no. He then did genetics and he was right so after 36 years I have a real diag. What would you like to know?
I had a muscle biopsy two months ago. They numbed my thigh, made a 2.5 inch incision, took a piece of muscle and stitched me up. Ask for crutches for the day at least because I walked out without them and later that day I had to go get a set. I was told this was rare but I had a bleed in the muscle later that day and it pooled and clotted between my muscle and skin causing a half grapefruit sized bulge sticking out of my leg! It really hurt so I naturally went to the er and the next morning they sent me to my surgeon at another hospital where He reopened and removed the blood clot(called it a hematoma), he put a drain tube in and closed me up again. I was on crutches for about a week after that, but pain meds helped a lot! Anyways two weeks later and my leg was fine, don't let this deter you from a biopsy, it doesn't happen very often and it wasn't so bad.
By the way, make sure your doctor chooses the appropriate muscle because my neurologist did not choose a weak muscle. In fact he never told the surgeon which muscle to biopsy, nor did he tell me which muscle to do. So my surgeon asked me which muscle to biopsy and I had no idea! I said my legs and shoulders were weak, but he sliced up a muscle in my leg that wasn't weak. He biopsied my vastus lateralis, I now know after a proper physio assessment that it's my vastus medialis, hamstrings, and hip flexors that are weak. I went to a different doctor that I trust, and he said he wants to send me across the country for another biopsy based on the previous results(mild non specific changes). He is pretty sure about the diagnosis based on family history but nothing diagnostic for me yet, hopefully the next biopsy will be more informative.