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Dr. Stan
Dr. Stan, Medical Physician and Surgeon
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Experience:  Johns Hopkins Fellowship Trained, Certified and Licensed Medical Physician and Surgeon
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first two nobody was around and I can only assume they were one time

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My 27 year old son has had 4 seizure episodes. The first two nobody was around and I can only assume they were "one time" seizures. However, the two sets of seizures that have been witnesses involve him have almost constant seizures over several hours. Some of those are what I call grad mal since he throws up and/or urinates. His constrant seizures start with him staring and typical seizure movements with arms and legs tightening and shaking/seizing and with vocal noises. However, it now appears that once he starts a seizure he does not stop for several hours. He will seize, then relax a bit but not "wake up" and then seize again, relax but not wake up, etc. until he has had 3-5 seizures in a row. The first time this happened we got him to the hospital after the 3rd seizure and he had two more. He then had so many "torn" muscle that the crystals caused his kidneys to stop/slow functioning (he had urine but it was a dark brown). They called this rhabnomayalis (I don't know how to spell it). He had a second set of these in and out seizures again (he moved and got out of his normal practice of taking meds. He had some rhabno with this set of seizures but not as bad. Now his neuro-muscular doctor is having him treated for Pompe disease. My question (which I have yet to propose to the doctor because she simply sent the orders fo the muscle biopsy in a letter without explanation) is how/why would she jump to that conclusion first and is muscle break down the cause of the seizures or are the seizurs the cause of the muscle breakdown?

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Sorry about your challenges getting explanations from your doctor. It appears that he is experienced Grand Mal/Status epileptics seizure. The seizure episodes caused the muscle breakdown. However, Pompe disease may have contributed to the underlying cause of the metabolic abnormalities leading to the seizure episodes. Pompe disease is an inherited disorder due to the accumulation of a complex sugar known bas glycogen in the body's cells. The buildup of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally and can trigger uncontrolled muscle contractions that may resemble seizure. It is important to determine that the contracts or seizure are related to the Pompe disease. I suggest EEG, EMG and Nerve conduction testing, in addition to the muscle biopsy. In general, Pompe disease tend to cause muscle weakness and some liver abnormality, and not seizure.

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