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How Many People Have Pompe Disease?

There are approximately 5,000 to 10,000 people around the world living with the symptoms of Pompe disease. Based on studies done in the Dutch population, it is estimated that Pompe disease occurs in 1 in 40,000 live births worldwide.

Pompe disease affects both men and women equally and is thought to be panethnic, meaning that it affects all races. It does, however, appear at a higher rate in some ethnic groups. Studies have shown that there are more cases of infantile-onset Pompe disease in the African American population, as well as in Southern China and Taiwan.

Pompe Disease Type

Estimated Incidence per Births

Infantile onset

1/138,000

Late onset

1/57,000

All Pompe

1/40,000

These results are consistent with similar estimates from a United States-based study. Other studies have also shown that the incidence of Pompe disease may vary across ethnic groups. The highest incidence of infantile-onset Pompe disease occurs in the African-American and Chinese populations.

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