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How do you find out you have Pompe Disease?

Updated: 8/20/2019
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11y ago

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It took 3 muscle biopsies to diagnose my Pompe. Although I believe a blood spot test is the best way to diagnose it.

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11y ago
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Q: How do you find out you have Pompe Disease?
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Related questions

How can one get Pompe disease?

Pompe disease is caused by a build up of glycogen (a type of sugar) in the cells, which causes muscles and organs not to function properly. Pompe disease is an inherited disease which means you can only get it from your parents when they both have a copy of the Pompe disease gene.


When was pompe disease discovered?

in 1932 by a dutch pathologist J Pompe


Is pompe disease sex-linked?

no it is not.


What organelle does pompe disease affect in cell?

lysosomes


Is pompe's disease related to lipids or carbohydrates?

yes


What part of the cell is defective in pompe's disease and Tay Sachs disease?

Lysosomes


What part of the cell is defective in pompe's disease and Tay-Sachs disease?

Lysosomes


Defective in pompe's disease and tay-sachs disease?

Lysosomes are the organelles that become defective in these diseases.


What is the treatment for Pompe disease?

There is no cure for Pompe disease. Treatment, therefore, serves only to help minimize the symptoms. The clinical course is typically not affected by drugs that are used to treat the respiratory or cardiac defects


What organelle does Pompe Disease affect in the cell and how does this disease affect someones life.?

it is were it affects your repository system


What organelle does Pompe Disease affect in the cell and how does this disease affect someones life?

it is were it affects your repository system


What organelle''pompe disease does affect in the cell and how does this disease affect someones life?

it is were it affects your repository system