Pompe disease is a rare, inherited neuromuscular disorder. It’s caused by a shortage of the enzyme that processes glycogen in the body. Without this enzyme, glycogen builds up in muscle, tissue, and organs, and weakens them.Glycogen is a complex sugar that breaks down into glucose. Glucose is a simple sugar that provides energy for your body’s cells. 

The severity of the disease depends on your age at onset. Infants born with the disease didn’t use to survive past age 2, but some now are with treatment. Later-onset Pompe disease is milder, but progressively disabling. There’s no cure, but enzyme replacement therapy (ERT) is a promising therapy that may extend lifespan. 

Classic infantile 

This is the most severe form of Pompe disease. With this type, the affected person has a complete or nearly complete lack of the enzyme necessary to process glycogen. Symptoms of classic infantile Pompe disease begin in an infant’s first three months of life and progress rapidly. 

Infants with this condition will be floppy, like a rag doll, because of weak muscles. Their respiratory and heart muscles are also weak. The weak heart muscles cause most infants with this condition to die of heart failure before they are 2 years old. 

Childhood or non-classic infantile 

This is a slightly milder form of Pompe disease. In people with this type, the enzyme necessary to produce glycogen is reduced by 70 percent or less (3). Symptoms usually appear by the time a child reaches 12 months of age, but they may appear later. 

Children with this condition have delayed motor skills. Muscle weakness is progressive and first affects their lower limbs followed by their respiratory muscles. The heart isn’t as severely affected as it is in the classic type of the disease. 

Children with this condition often need a ventilator to help them breath. A wheelchair may be needed for mobility. 

Most children with this type of Pompe disease die of respiratory failure in early childhood. 


This is the mildest form of Pompe disease and accounts for two-thirds of all cases. 

Symptoms may not appear until adolescence or adulthood, with some cases occurring as late as age 60. 

People with this type of Pompe disease have progressive muscle weakness that leads to fatigue. Limb movement becomes difficult over time. 

The lower limbs and the trunk muscles are affected, but in most cases the heart muscles aren’t affected. Spinal curvature may develop. 

According to a 2006 diagnosis and management guideline for Pompe disease, about 60 percent of people with late-onset Pompe disease have a mild reduction in breathing capacity, and 30 to 40 percent have a moderate reduction. 

People with late-onset Pompe disease often die as a result of respiratory failure.

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