United Pompe Foundation

5100 N. Sixth Street #119
Fresno, CA


About United Pompe Foundation

The United Pompe Foundation is a voluntary organization that was formed to assist Pompe patients and their families with medical needs that are not covered by insurance. Pompe disease is a rare genetic disorder which causes progressive muscle weakness as a result of the build up of glycogen in the muscle cells. Three separate forms of Pompe disease have been identified. The infantile form is characterized by severe muscle weakness and abnormally diminished muscle tone (hypotonia) without muscle wasting, and usually manifests within the first few months of life. Additional abnormalities may include enlargement of the heart (cardiomegaly), the liver (hepatomegaly), and/or the tongue (macroglossia). Progressive cardiac failure usually causes life-threatening complications by the age of 12 to 18 months. The childhood form usually begins during late infancy or early childhood. The extent of organ involvement may vary among affected individuals; however, skeletal muscle weakness is usually present with minimal cardiac involvement. In the adult form of Pompe disease, symptoms include muscle weakness such as that found in other chronic muscle disorders. Onset of symptoms usually occurs in the second to fourth decade. This form of the disorder is slowly progressive without cardiac involvement.

Related Rare Diseases: