Diagnosis & Testing

The ability to correctly differentiate Pompe disease from other disorders is crucial for minimizing diagnostic delays and optimizing patient outcomes.
Pompes sygdom - symptomer og sygdomstegn

However, because Pompe disease is rare and many of its signs and symptoms are shared with other conditions, the differential diagnosis can be challenging. Pompe disease should be considered when signs and symptoms suggest progressive muscular degeneration in infants, children, adolescents and adults. Once a clinical suspicion is raised, Pompe disease can be tested for by measuring acid alpha glucosidase (GAA) enzyme activity.

Pompe Registry

Pompe Registry

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

Pompes sjukdom
Sara, Pompe patient