Genetics & epidemiology

ESTIMATES FROM AVAILABLE DATA PUT THE OVERALL INCIDENCE OF POMPE DISEASE AT APPROXIMATELY 1 IN 40,000 LIVE BIRTHS.
Pompes sjukdom

Pompe disease is an inherited condition caused by a mutation of the Acid Alpha-Glucosidase (GAA) Gene, mapped to the long arm of chromosome 17 (location 17Q25.2-Q25.3).

Pompe Registry

Pompe Registry

A program that tracks information about patients’ symptoms and experiences in order to improve understanding of Pompe disease.

Pompe disease
Dione, Pompe patient