What is Pompe?
Pompe disease, also known as acid maltase deficiency, is a rare neuromuscular disorder that causes progressive muscle damage and weakness. Pompe can affect patients of all ages, with symptoms occurring at any time from infancy to adulthood. Pompe disease occurs when a defective gene causes an absence or marked deficiency of an important enzyme, acid alpha-glucosidase (GAA). The absence of the GAA enzyme results in excessive buildup of a glycogen in muscle cells throughout the body. As excess glycogen continues to accumulate, it causes more damage to cells, leading to worsening muscle weakness that can affect movement, breathing, and other areas.
How is Pompe diagnosed?
Recognizing Pompe disease can be challenging, as signs and symptoms may be heterogeneous and shared with other disorders. Early diagnosis is critical to optimizing disease management outcomes. A Pompe diagnosis can be confirmed – or ruled out via a minimally invasive test to measure GAA activity in tissue or blood - including dried blood spot on filter paper or whole blood.
See also the AANEM's Consensus Treatment Recommendations for Late-Onset Pompe Disease
and monograph Late-Onset Pompe Disease: Presentation, Diagnosis, and Management
More information on Pompe
Muscular Dystrophy Association
National Organization for Rare Diseases