Pompe disease is a rare genetic disorder caused by errors in the gene that is responsible for producing the acid alpha-glucosidase enzyme (GAA). The GAA enzyme is important for the breakdown of glycogen, a sugar stored in muscle cells. In people with Pompe, GAA is either missing or non-functional, therefore glycogen is not broken down and begins to accumulate in the muscle cells.

The onset and severity of symptoms are on a spectrum and can vary depending on the amount of functional GAA a person with Pompe has. If a person has no GAA at all, this results in a severe form of the disease that usually present before 6 months of age and may progress rapidly. For those with a small amount of functional GAA, their symptoms will likely present at a later stage in life and may not be as severe. Symptoms that can appear during the earlier stages of life include difficulties with posture and movement, sucking and swallowing and breathing. The earlier form of Pompe can cause weakened heart muscles (cardiomyopathy) or an enlarged heart (cardiomegaly). In the later stages of life, people with Pompe may experience difficulties with walking and stairs, fatigue, and breathing while laying down.

While there are no cures for Pompe currently, treatments include management of symptoms and monitoring for complications, particularly in people that develop symptoms later in their life. There are disease modifying therapies like enzyme replacement therapy (ERT) which is aimed at correcting the lack of GAA produced. While there are therapies available, management of Pompe disease still requires a wholistic and multidisciplinary approach. For more information on Pompe disease, please contact research@muscle.ca or call 1-800-567-2873 ext 9037.