Type II Glycogen Storage Disease (Pompe Disease) is a rare, inherited disorder caused by a deficiency of the enzyme alpha-glucosidase. This enzyme is responsible for breaking down glycogen, a form of sugar stored in the body's cells. Without this enzyme, glycogen builds up in the cells, leading to a variety of symptoms, including muscle weakness, enlarged heart, and respiratory problems. Treatment typically involves enzyme replacement therapy and dietary modifications.

The symptoms of Type II Glycogen Storage Disease (Pompe Disease) vary depending on the age of the patient. In infants, the most common symptoms include muscle weakness, Enlarged liver and heart, poor feeding, and respiratory problems. In older children and adults, the most common symptoms include muscle weakness, fatigue, difficulty breathing, and an enlarged heart. Other symptoms may include joint pain, muscle cramps, and difficulty swallowing.

Type II Glycogen Storage Disease (Pompe Disease) is caused by a mutation in the GAA gene, which is responsible for producing the enzyme alpha-glucosidase. This enzyme is responsible for breaking down glycogen, a form of stored sugar, in the body. Without this enzyme, glycogen builds up in the cells, leading to the symptoms of Pompe Disease.

The primary treatment for Type II Glycogen Storage Disease (Pompe Disease) is enzyme replacement therapy (ERT). ERT involves the intravenous administration of a recombinant form of the enzyme alpha-glucosidase, which helps break down glycogen in the body. Other treatments may include dietary modifications, physical therapy, and respiratory support.

1. Family history of Pompe Disease
2. Being of Ashkenazi Jewish descent
3. Being of Dutch descent
4. Being of French-Canadian descent
5. Being of Finnish descent
6. Being of Italian descent
7. Being of Japanese descent
8. Being of Korean descent
9. Being of Chinese descent
10. Being of African descent
11. Being of Hispanic descent
12. Being of Native American descent
13. Being of Pacific Islander descent
14. Being of South Asian descent
15. Being of Southeast Asian descent
16. Being of Middle Eastern descent
17. Being of Eastern European descent
18. Being of Western European descent
19. Being of Central American descent
20. Being of South American descent

Yes, there is a medication available for Type II Glycogen Storage Disease (Pompe Disease). The medication is called alglucosidase alfa, and it is used to replace the enzyme that is missing in people with Pompe Disease. It is administered intravenously and can help improve muscle strength and function. It is important to note that this medication does not cure Pompe Disease, but it can help manage the symptoms.