What is Pompe disease?
Pompe is a rare, lysosomal disease causing muscular weakness.
This makes movement and breathing harder over time. It happens when the body is missing an important enzyme (acid alpha-glucosidase or GAA) that breaks down stored sugar called glycogen.
Without this enzyme, glycogen builds up inside muscle cells, damaging them and leading to progressive weakness.
There are two types of Pompe disease:
Infantile-Onset Pompe Disease
Symptoms appear in the first year of life and progress rapidly, often leading to severe heart and muscle complications.
Late-Onset
Pompe Disease
A rare, lysosomal storage disease causing muscular weakness that eventually leads to impaired mobility and breathing issues.
Ongoing research is crucial to improving early detection, developing treatments, and finding a cure.
Because symptoms vary and progress differently for each person,
many with Pompe go undiagnosed for years.