Pompe disease is a progressive, multisystemic, debilitating, and often fatal neuromuscular disorder. The disease is linked to an inherited deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), which is responsible for the breakdown of glycogen inside the cells.
Signs & Symptoms
All patients with Pompe disease exhibit progressive muscular weakness. Proximal limb and respiratory muscles are the most commonly affected across all ages, while cardiomyopathy is the hallmark sign in infants.
Recognizing Pompe disease can be challenging, as its signs and symptoms are similar to those of other diseases and disorders. As a result, significant diagnostic delays are common in many patients.
Diagnose Pompe Disease