"When I first was diagnosed with Pompe disease, I was scared. But after we talked to doctors - learned all kinds of stuff about it, I slowly became ok with it."

~ Abby, Pompe patient

To learn more about free, simple testing options available for health care professionals, click here.

For Patients and Families

Pompe disease is a neuromuscular disorder, which causes muscle weakness in people of all ages, but the symptoms vary widely from person to person. Learn more about the signs and symptoms, diagnosis and testing, and strategies and resources for living with Pompe disease.

For Healthcare Professionals

Pompe disease is a progressive neuromuscular disorder, so early diagnosis is critical for optimal patient outcomes. Find out more about the disease's pathology, clinical manifestations, and diagnostic and management options.