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.

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.
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.
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.
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.
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.
"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.
Patients and parents contribute to the understanding of late-onset Pompe Disease
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Sat, May 23, 2009
Pompe Program Update – May 22, 2009
Sat, May 23, 2009
Genzyme Submits All Information Requested by FDA for Lumizyme
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