IPA - International Pompe Association

Pompe disease...

Affects the lives of an estimated 5,000 to 10,000 people all over the world. A progressive, debilitating and life-threatening disease, infants, children and adults who inherit the defective gene from each parent are susceptible to getting Pompe. More information on Pompe Disease.

Pompe disease...

also known as Acid Maltase Deficiency (AMD) or Glycogen Storage Disease type II (GSD-II) has an incidence rate of 1:40,000. This makes it a very rare disorder. Pompe disease can be diagnosed via several tests; GAA enzyme activity assay in blood, tissue analysis and Gene mutation analysis.

Pompe disease...

patients can exhibit symptoms anywhere from childhood to adulthood. Infants with Pompe disease have more severe symptoms than adults. For patients diagnosed after infancy, symptoms usually are progressive muscle weakness which starts from the proximal muscles. Diagnosing Pompe disease can be difficult as the symptoms are shared with other diseases such as muscular dystrophy.

Pompe disease...

patients need a network of support in order to ease the hardships that these patients and their families go through. Support not only for medical reasons but also to deal with emotions such as anger, depression, and uncertainty.

Pompe disease...

children should be given as much chance to a normal life as possible. Treating them normally and allowing them to experience activities such as chores, sports, and other tasks allow them to develop physically, emotionally and socially.

Pompe disease...

Patients may need to alter their lifestyle as a result of the illness. This includes physical and emotional aspects of their lives. These lifestyle changes can be difficult for both the patient and their families.

Pompe disease...

Can affect multiple members of the family. There are cases wherein several siblings are diagnosed to have Pompe Disease. Other family members who don't have Pompe Disease might be carriers. It's a good idea to have genetic testing done on family members.

Pompe disease...

affects people from all races. It is not confined to a specific race or gender. There are Pompe patients all over the world. All of which are hopeful that one day modern medicine can help alleviate their symptoms.

Our Mission

"Campaign for early diagnosis and effective, affordable and safe therapies. Strive to provide information and support to all patients, their families and others with interests in Pompe disease"

The IPA is a federation of Pompe disease patient's groups world-wide. It seeks to coordinate activities and share experience and knowledge between different groups.

Pompe questionnaire

a picture of a pompe patient

Patients and parents contribute to the understanding of late-onset Pompe Disease
Find out more...