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Patients typically find it difficult to go up a flight of stairs or experience exercise intolerance.
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∙ 13y ago
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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
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 are the symptoms of infantile Pompe disease?
It is particularly progressive, and characterized by rapid muscle deterioration. Failure to reach milestones such as rolling over, sitting up, or standing is
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.
How do you find out you have Pompe Disease?
It took 3 muscle biopsies to diagnose my Pompe. Although I believe a blood spot test is the best way to diagnose it.
What symptoms do people with juvenile Pompe disease exhibit?
They may initially complain about muscle weakness and experience failure to progress in terms of motor development, even though intelligence is normal.
