How Is Pompe Disease Diagnosed?

Pompe disease is a rare disorder that can often take years to diagnose due to its similarity to other conditions and its rarity. Newborn screenings are making it easier to diagnose babies with the disease, allowing for immediate treatment to start. Symptoms of Pompe disease can show up at any age, from infancy to adulthood, and can vary in severity. Genetic testing and enzyme replacement therapy are common methods of diagnosing and treating the disease. While some individuals with a positive genetic test for Pompe disease never develop symptoms, regular monitoring is still recommended to ensure early intervention if needed.

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