What are the signs and symptoms of Pompe disease?

Pompe disease can cause many different symptoms that affect different parts of the body. Although Pompe disease affects everyone differently, it mainly affects muscles, including the heart muscle, respiratory muscles and the diaphragm.

Symptoms include:

  1. Nervous system - Developmental delay, motor delay, speech problems, hearing impairment.
  2. Muscles and bones - Muscle weakness, floppy muscles (decreased muscle tone), large protruding tongue, head lag, fragile bones (osteopenia).
  3. Heart - Enlarged heart (cardiomegaly), irregular heart beat (arrhythmias).
  4. Lungs - Difficulty breathing due to respiratory muscle weakness, frequent respiratory infections.
  5. Intestines - Feeding difficulties, poor appetite, difficulty swallowing (dysphagia), not putting on weight (failure to thrive), enlarged liver (hepatomegaly).

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.