Pompe disease


Are there organ specific treatments for Pompe disease?

In addition to enzyme replacement therapy for Pompe disease, it is important to follow up regularly with several different medical specialists to manage different symptoms or possible symptoms of Pompe. First, it is recommended that everyone with Pompe disease be followed by a doctor who is knowledgeable about lysosomal storage diseases and/or Pompe disease. This may be a medical geneticist (genetics doctor), a neurologist (nerve doctor) in a Muscular Dystrophy Association clinic, or other doctor who has followed similar patients. Anyone with Pompe disease should follow regularly with a cardiologist (heart doctor) who may recommend an echocardiogram (ultrasound of the heart) and/or electrocardiogram (ECG; study of the heartbeat). A pulmonologist (lung/breathing doctor), gastroenterologist (GI; doctor for eating and swallowing issues), or an orthopedic surgeon (bone doctor) may also be needed depending on the symptoms. Regular physical, occupational, and speech therapy can be very helpful in helping to keep the muscles working longer.

Case LE Kishnani PS. Physical therapy management of Pompe disease. Genet Med. 2006 May; 8(5):318-27.

Pompe Schedule of Assessments

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me