Pompe disease signs and symptoms vary depending on patient age, age at onset, and the severity of the disease.
Symptoms in infants can include weak sucking and swallowing, failure to gain weight, frequent infections, muscle weakness and respiratory failure, enlarged heart, slow development, and difficulty for the infant to hold their head up. Mortality from Pompe disease in infants with these symptoms is high.
Some children, juveniles, and adults with Pompe disease need respiratory support when sleeping. The disease can cause shortness of breath and make it difficult to breathe when lying down due to weaker diaphragm muscles. In addition, due to weakness in the limb girdle muscles, patients may develop difficulty walking and weak stomach muscles. Many eventually progress to needing assistive devices to walk, or even wheelchairs.
Pompe disease can be challenging to identify because of the similar symptoms shared with other diseases. It is usually diagnosed with genetic testing, although muscle biopsies are still sometimes performed as part of the diagnostic work up. Please visit the Pompe disease information page here for more information about diagnosis and therapies in development.
What are the symptoms of Pompe disease?
Infants (typically diagnosed at <1 year of age)
- Enlarged heart that may progress to heart failure
- Weak sucking and swallowing
- Failure to gain weight
- Frequent respiratory infections
- Respiratory insufficiency (often requiring ventilation)
- Slow to reach developmental milestones
- Muscle weakness
- Difficulty holding head up and extremely hypotonic posture
- High risk of mortality
Juveniles and Adults
- Weak jaw and swallowing muscles make eating difficult
- Difficult to breathe when lying down
- Shortness of breath
- May have frequent respiratory infections
- May need respiratory support, such a ventilator
- Difficulty walking (“waddling” or myopathic gait) or wheelchair use
- Difficulty climbing stairs or lifting arms overhead