My 19 yr. old son was hospitalized this year for Rhabdomyolysis after a workout at the gym. He used the same amount of weights as he had in the past. He is 5’7’, 140 pounds. His CPK was >100,000, but returned to normal 4 weeks later. He had an EMG study 4 months later, which showed a “systemic muscle disease; some kind of myopathy.” A month later he had a muscle biopsy, which was sent to two labs, Athena and a large university hospital in our area. A myoglobinuria panel was run with only the Myoadenylate Deaminase being borderline deficient. The stains tests from the other lab had mild results with few polygonal atrophic fibers, rare split fibers and esterase-positive denervated fibers.
His history includes complex partial seizures from age 5 - 12, but has resolved with no further incidents since and on no medication since the age of 12. He also had Tourettes, but is a non-issue now. For a period of 3 years he stopped growing and around the age of 15 received some injections to kick-start puberty. Also, for most of his life we noticed exercise intolerance throughout grade school up though high school. He would have severe headaches afterwards or seizures. His face would be redder than I had ever seen. We had his lungs and heart checked out with normal results. When he plays basketball now, he tolerates it well.
Current office exams reveal normal strength and no muscle weaknes. A cycle exercise test is being ordered and the biopsy is being run under the electron microscope to try and pin down the type of muscle disease. However, his labs didn’t sound like to me there was anything significant. Does his body just needs more time to recover from the Rhabdo and over time the EMG results would return to normal? Since he is functioning well, I just have a hard time believing he has a muscle disease.
If it were your son would you encoursage him to agree to continued testing or would you feel comfortable in taking a wait-and-see approach?
Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with a doctor.
Without the ability to examine and obtain a history, I can not tell you what the exact cause of the symptoms is. However I will try to provide you with some useful information.
I believe your son is getting the appropriate workup for his presentation. A simple gym workout usually would not cause rhabdomyolysis with a CPK that high unless one is very sick and dehydrated at the time. A screen for myopathies is warranted. Ofcourse before considering a primary muscle disease, general labs like thyroid functions tests, electrolyte abnormalities, complete blood count, kidney and liver function tests should be checked. Most likely these have all been checked for your son.
Myopathies can be inflammatory (associated with pain usually) or non-inflammatory (usually not associated with pain). The next step is EMG and a muscle biopsy which have already been completed for your son and appear to have some abnormalities but no conclusive diagnosis has come out yet it appears from what I gathered from your post. Sometimes if a myopathy is detected very early on, then signs of muscle weakness may be subtle/absent.
My advice would be to followthrough with the testing and my recommendation would be to have a Neuromuscluar specialist involved as they are the experts in this field.
Thank you for this opportunity to answer your questions, I hope you find the information I have provided useful, good luck
Thank you for your reply. The doctor just said the biopsy tests were inconclusive and wanted to run more tests on it. Since he conducted the EMG study himself, the results, as well as his opinion, were discussed afterwards and he said every muscle he tested from his shoulder down to his foot was abnormal, which he said indicated myopathy, a systemic muscle disease. His said he wants to find what it is and doesn't want to stop looking until he gets answers. I respect him for that, but I'm just thinking there may not be a clear answer.
Just an update to say the results from the electron microscope study came in and since they talked to my son, all he remembers was that it was abnormal and something about minicore. We won't be seeing the doctor until Nov., so a full explanation of the report won't be until then. But what little I was able to read up on doesn't sound anything like the symptoms of my son, nor did he present with symptoms as a baby. He goes for max cycle testing and ischemic forearm testing in a couple of weeks. I really hope there is a clear answer out there. Every test performed since his episode of Rhabdo has been abnormal, but no definitive diagnosis.
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