In infants

Although the signs and symptoms of Pompe disease can vary widely, some are seen more commonly than others.

In infants, the most characteristic signs of Pompe disease are:

  • Severely enlarged heart and resulting heart problems
  • ‘Floppy’ appearance due to severe muscle weakness

Infants with Pompe disease may also have:

  • Breathing difficulties 
  • Frequent chest infections
  • Problems feeding, resulting in failure to gain weight as expected
  • Failure to meet certain developmental milestones, such as rolling over and sitting up

In infants with Pompe disease, signs usually appear within the first few months of life, although they may be seen immediately after birth. Parents may first notice that their baby has general muscle weakness and difficulty breathing and/or eating. As the heart and breathing muscles continue to weaken, the infant can become seriously ill very quickly, even over just a few months. Without treatment, infants with Pompe disease usually die from heart and/or breathing failure by the age of 1 year.