Managing Pompe Disease

Once someone has received a conclusive diagnosis of Pompe disease, it’s time to discuss the options for managing this complex disorder with a physician. While there is no cure for the disease, several types of care and treatment can help. Until recently, patient care focused entirely on symptom management, using a variety of supportive therapies to alleviate and compensate for the effects of the disease. Today, enzyme replacement therapy (ERT) is available which is intended to replace the deficient acid alpha-glucosidase (GAA) enzyme.

The muscle weakness caused by Pompe disease affects many parts of the body. It can result in difficulties with walking and moving around, breathing properly, even eating and performing basic day-to-day tasks. Because the effects of Pompe disease are wide-ranging, proper management requires a comprehensive approach. Patients generally need to be treated by a team of doctors from a variety of medical specialties.[1]

Approaches to Patient Care & Treatment

The effects of Pompe disease can vary widely from person to person; therefore, care and treatment plans must be individualized to each patient’s needs. Moreover, because the disease is always progressive—it worsens over time—regular follow-up is important to check on the disease progression and adjust patient’s care as needed.[1]


  1. Kishnani PS, Steiner RD, Bali D et al. Pompe disease diagnosis and management guideline. Genet Med 2006 8:267-88.

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