4/26/07 *New information at bottom of page*

Pompe Disease is an inherited recessive disorder in which both parents must pass one affected gene to their children. When both parents carry an affected gene, there is a 1 in 4 chance their child will have Pompe Disease. Pompe Disease is one of a family of 49 rare genetic disorders known as Lysosomal Storage Diseases (LSDs). Pompe Disease is also considered as one of the Muscular Dystrophy Disorders. There are additional names for Pompe Disease, such as Acid Maltase Deficiency or Glycogen Storage Disease Type II. There are two groups of Pompe Disease, early onset (infantile) and late onset (juvenile and adult).  Early onset Pompe Disease occurs approximately 1 in 100,000 births. In the U.S. there are 30-35 infants diagnosed with Pompe Disease each year.

Children with infantile-onset Pompe Disease appear normal at birth, but usually start showing symptoms within the first few months of life. In these infants, progression of the disease is rapid and is almost always fatal before the age of 1 (without treatment). Their bodies are missing an enzyme that is necessary for breaking down glycogen, therefore the glycogen becomes stored in muscle cells throughout the body. When the glycogen accumulates, it leads to severe muscle degradation and affects the heart, skeletal, and respiratory muscles.

With any patient that is diagnosed with Pompe Disease, they will need a variety of health care professionals involved with their care. Some of the services needed are cardiology, pulmonolgy, genetic counseling, physical therapy, occupational therapy, respiratory therapy, speech therapy, psychosocial therapy, and nutritional and dietary therapy. These specialties are all involved with the care and treatment of patients with Pompe Disease.

There is much hope in the world of Pompe Disease after the drug, Myozyme, was approved in April 2006. Myozyme replaces the enzyme that is missing in patients with Pompe Disease, thus slowing the progression of the disease. In most cases, Myozyme is administered intravenously every two weeks.

The information above is a very brief summary of Pompe Disease. There is much more to learn about this Disease than what I have written about. If there is something specific you would like to see or learn about, please email me at krystalhayes2000@yahoo.com.

There are many websites that gives more information on Pompe Disease. Please check them out.

http://www.pompe.com

http://www.amda-pompe.org

http://www.unitedpompe.com

There are many other places on the Internet to go for Information on Pompe Disease. Check out the Muscular Dystophy Association at http://www.mda.org or type in "Pompe Disease" on www.yahoo.com.