Pompe disease is a rare, inherited neuromuscular disorder that causes progressive muscle weakness and loss of muscle tissue.
Pompe disease goes by many different names:
Pompe disease can occur between infancy and adulthood, and affects both men and women equally. Approximately one-third of people with Pompe disease are infants (infantile-onset) while the other two thirds are children or adults (late-onset).
Pompe disease is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). The job of this enzyme is to break down glycogen, a form of sugar stored in muscle cells throughout the body. In people with Pompe disease, this enzyme is either missing or in short supply.
The symptoms and severity of Pompe disease can vary widely from person to person.
Symptoms associated with the infantile-onset form may include:
Symptoms associated with the late-onset form may include:
Enzyme replacement therapy (ERT) has the ability to treat the underlying cause of the disease. Though ERT is not a cure, providing the missing enzyme may slow the progression of muscle weakness and improve muscle function.
Treatment options also include supportive care, such as:
Speak with your health care provider about treatment options that are right for you.
This booklet provides information about Pompe disease and how it is diagnosed and managed. It also offers practical tips on living with Pompe disease.
Assists in funding research and promotes public awareness about Pompe disease.
Organizes an annual family/medical conference for those affected with GSD, their families, and medical professionals involved in treatment or research of any type of GSD.
A federation of Pompe disease patient groups world-wide. It seeks to coordinate activities and share experience and knowledge.
Helps people become familiar with Pompe disease and supports those with the disorder.
Offers comprehensive information about Pompe disease as well as resources and support.
Helping to improve the quality of care for patients through research and collaboration.