What Is Infantile-Onset Pompe Disease?

The classic infantile-onset form usually appears within the first few months of life with a rapid and life-threatening progression of signs and symptoms. Some children have an atypical form of infantile-onset Pompe disease, in which symptoms show up later in the first year of life. In these children, damage to the heart muscle progresses more slowly, and they may survive beyond their first birthday.

Babies may have a "floppy" appearance because of poor muscle tone, extreme weakness, and/or the inability to hold up their heads on their own.

A “floppy baby” with head lag, the inability for a baby to support its own head due to muscle weakness.

Another early sign may be an enlarged heart as shown by a chest x-ray. Parents may also report feeding or respiratory problems to their pediatricians.

Infantile-onset Pompe disease is a life-threatening condition that affects all of the major body organs. The chart below lists the major symptoms.

Without a disease-specific treatment, the disease progresses rapidly, and the infant may quickly become gravely ill. Babies with infantile-onset Pompe disease are not likely to survive past the age of 1 year.

Move your cursor over the figure below to view important signs and symptoms of Pompe disease.

Major signs and symptoms of infantile-onset Pompe disease

Muscles

Severe and progressive muscle weakness

“Floppiness” due to loss of muscle tone

Head lag—when baby is pulled up to a sitting position by grasping the hands or arms, the head drops back

Frog-like position of legs

Failure to meet developmental milestones such as rolling over, sitting up, crawling, and walking—or loss of milestones

Weak facial muscles

Poor or absent reflexes

Lungs

Difficulty breathing

Frequent respiratory infections

Respiratory failure

Digestive (GI) Tract

Feeding problems that occur as it becomes harder to breathe, suck, or swallow

Failure to thrive or gain weight as rapidly as other babies the same age

Enlarged liver

GI discomfort: vomiting, regurgitation

Enlarged tongue (and in some cases, protrusion of the tongue)

Heart

Enlarged heart

Heart failure

Heart rhythm changes

Each baby’s symptoms may vary, but research shows that the most common signs and symptoms of infantile-onset Pompe disease are:

Muscle weakness (96%)
Enlargement of the heart (95%)
Enlargement of the liver (82%)
Enlargement of the tongue (62%)

Sometimes babies with infantile-onset Pompe disease are labeled as having "failure to thrive." These babies are generally never able to sit on their own, crawl, or walk. Most babies will eventually need mechanical ventilation in order to breathe. As damage to the heart and breathing muscles gets worse, most of the infantile patients with the severe form of Pompe disease have died from cardiorespiratory failure by age one.