559187 tn?1330782856

Is there anyone on this forum who has or know anything about Pompe's Disease?

I know this is a long shot, but is there anyone here on the MedHelp Neuro who knows anything about Pompe's Disease?  I am getting a little frustrated with trying to find a patient group that either has this metabolic disease that has neurological problems.  I am an MS patient, but am in the process of  waiting on the results of a second test to confirm this.  Just what those of us with neuro issues need, a concurrent neurological problem.  

Anyway, I am putting this out to you all to see if anyone can help me come up any ideas of where to turn for help with such a rare disease.  

Thanks in advance, even if you just read the post, that is good enough.  

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Pompe’s disease is characterized by a genetic (inherited) deficiency of an enzyme called acid alpha glucosidase. This enzyme helps the body break down glycogen, a complex carbohydrate that is converted to glucose for energy. Without the enzyme, glycogen builds up in the heart and other muscles, causing extensive damage. The build-up of glycogen causes progressive muscle weakness (myopathy) throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and nervous system.Pompe disease, also known as type 2 glycogen storage disease, is one of several types of glycogen storage disease. The inheritance of Pompe disease is a recessive condition. It is caused by a gene mutation inherited from both parents who are carriers of the gene. The risk to each of their children is 1 in 4 (25%) to have Pompe disease. There are several different forms of Pompe disease which vary in severity. One type is rapidly fatal because it damages the heart and the respiratory muscles that are needed for breathing . Hope this helps you . Take care and regards !
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559187 tn?1330782856
Thanks for your response Dr. Raj.  Are you familiar with any patients there in India with this condition?  

I am hopeful that the second test will come back showing that I do not have this, but it is still on my mind until the results come in.  From what I have read it is a devastating disease.  

Thanks again for the information.
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