When you find out that you, your child, a family member or one of your friends has Pompe disease, this is probably the first time you have heard about this disease. Pompe disease is relatively rare and little known to the general public. It is not so long ago that many healthcare professionals knew about this disease.
The lack of knowledge and information about the disease causes concern in families affected by Pompe disease. Much has changed in recent years. Doctors as well as other health professionals now know Pompe disease better. She is a subject of research in both genetics and neurology (neuromuscular specialist). That research has, in the last decades, led to a new therapeutic approach to this disease. A drug that can stabilize the disease and in some cases can reduce some of the symptoms was developed.
At the moment, people with Pompe disease can use a wide range of tools and support services. This website aims to help you and your family in discussing Pompe's disease with your doctor or other health professionals. It also gives you a general picture of the disease, tips for dealing with certain symptoms, general support and information about existing treatment options.
How many people have Pompe disease?
Nobody can say that with certainty. The disease is estimated to occur in about 1 in 40,000 live births (worldwide) [1,2,3] However, differences between ethnic groups have been identified . For example, in the African-American population, the incidence is estimated to be higher than about 1 in 14,000. [2, 3] The exact prevalence in the US is not known but it is estimated that several thousand people have Pompe disease. As a result of these figures, Pompe disease is considered an orphan disease, a name for rare diseases with a prevalence of less than 200,000 in the US and no more than 5 in 10,000 people in Europe.
Because Pompe disease is often confused with more common diseases the wrong diagnosis can be made, it is quite possible that many more people have the disease than one thinks on the basis of current estimates. In addition, there are certain regions in the world where advanced diagnostic support is lacking and where such a complex condition may not be detected.
- Ausems MGEM, Verbiest J, Hermans MMP, et al. Frequency of glycogen storage disease type II in the Netherlands: Implications for diagnosis and genetic counseling. Eur J Hum Genet 1999; 7: 713.
- Hirschhorn, Rochelle and Arnold J. J. Reuser. Glycogen Storage Disease Type II: Acid Alpha-glucosidase (Acid Maltase) Deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill, 2001. 3389-3420.
- Martiniuk F, Chen A, Mack A, et al. Carrier frequency for glycogen storage diseae type II in New York and estimates of affected individuals born with the disease. Am J Med Genet 1999; 79: 69.