Overview of Pompe Disease
Welcome to the Pompe Community Web site.
Because Pompe disease is rare, many health care providers are not familiar with it. Pompe disease shares symptoms with a myriad of other disorders, which makes it especially difficult to diagnose. When treating a patient with Pompe disease, many health care providers may benefit from guidance, resources, and support, particularly given the life-altering, life-threatening nature of the disease.
This section of the Pompe Community Web site supports the important work of health care professionals who provide ongoing care and support for people with Pompe disease and their families:
Overview of Pompe Disease - Provides a basic overview of the disease, its history, nomenclature, and classifications and includes sections on:
Diagnosing Pompe – Given the rarity and diagnostic complexity of Pompe disease, this section provides information on:
- Clinical manifestations, including animated symptoms tools and progression history charts
- Differential diagnoses, including animated diagnostic tools
- Diagnostic workup
- Prenatal screening
- Current research, including enzyme replacement therapy and other therapies
- Standards of care
- Supportive therapies, including respiratory, dietary, physical, and occupational therapies
On the right side of this Web page, you will find information about the many useful resources and services Genzyme offers to health care professionals, including:
