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Pompe Disease – Overview

Pompe disease is a rare, inherited and often fatal muscular disorder. Pompe Disease is caused by a deficiency or total lack of the enzyme acid alpha glucosidase. This enzyme is responsible for breaking down excess glycogen which normally accumulates in the muscles.

The Pompe patient is deficient in this enzyme, the excess glycogen is not broken down and continues to accumulate in the muscle-cells. This results in progressive muscle damage and severe muscle weakness, so that normal muscle function is increasingly impaired.

Respiratory muscles are also involved, severely affecting pulmonary function and, in time, most – if not all – patients will need ventilator support.

Pompe Disease can present itself at any age from birth to older adults, its severity often depending on the age of onset, and level of enzyme activity.

Some symptoms of Pompe Disease can manifest as

  • Difficulty climbing stairs
  • Difficulty getting out of a chair
  • Walking with a sway or waddling gait
  • Difficulty walking / frequent falls
  • Difficulty picking things off the floor
  • Out of breath while talking
  • Out of breath with minimal exertion
  • Daytime sleepiness
  • Morning headaches
  • Breathing while laying flat

Follow the useful links below to get more information about Pompe Disease and management.

IMPORTANT: This information is intended to provide general information in regard to the matter covered. It is provided as a public service by the Australian Pompe Association.

Medicine is constantly changing and human error and changes in practice make it impossible to certify the accuracy of such complex material. Confirmation of this information from your doctor or medical practitioner is required.