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What is Pompe Disease? Edit

Pompe disease is a genetic disorder that damages the muscles and nerves in our body. This happens when there is too much glycogen in your boy's cells. The build up then causes the cell's to stop working normally.

How Does Pompe Disease Affect the Muscular System? Edit

Pompe disease affects the muscular system by impairing their ability t function normally.

Signs and Symptoms Edit

Pompe disease signs and symptoms are different depending on age.

-      In a three month old baby, they will go to the hospital with breathing problems cause by a bad cold.

-      In a two year old child, they will have just started walking. However it will be odd. Walking with a waddle and a limp. The infant will also have trouble turning over and holding its head up.

-      In a 20 year old women, the women will become winded easily and her muscles will ache when she climbs a flight of stairs.

-      In a 37 year old man, he will fall asleep during the day and have trouble breathing when lying down. 

Diagnosis Edit

If you have been experiencing the signs/ symptoms for a while then you should go to a doctor and consider testing. The signs/ symptoms are similar to other disease and make it hard to realize if it Pompe Disease or not. Making seeing your doctor very important. The disease is diagnosed by a test that will look for common mutations in GAA gene. The test will measure the level of GAA enzyme in a blood sample or by muscle biopsy.

Treatment Edit

The treatment for Pompe Disease depends on the person. The treatment has to be individualized to each patient needs. The disease gets worse over time, so follow up appointments are very important. In the follow up appointments they will check how the disease is progressing and what treatment is need for the patient now.

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