Methods of diagnosis

Diagnosing Pompe disease can be difficult for several reasons. Firstly, because the condition is so rare, many doctors have not encountered it before and so may not consider it as a possible diagnosis.
Dr. J.C. Pompe - Malattia di Pompe

In addition, many signs and symptoms of Pompe disease are not unique to it, so they can easily be confused with those of more common conditions. To make things even more complicated, Pompe disease can affect many parts of the body, with different people often affected in different ways.

Pompes sjukdom

Patient resources

Links to websites with more information on how to live with Pompe disease.

Pompes sjukdom
Sara, Pompe patient
Pompes sygdom - symptomer og sygdomstegn

Although the signs and symptoms of Pompe Disease can vary widely, some are seen more commonly than others.