Symptoms

  • 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