Pompe's Disease

What is Pompe Disease?

Pompe disease, also known as glycogen storage disease type II (GSD-II), is a rare, inherited metabolic disorder caused by the buildup of glycogen in the body's muscles and organs due to an enzyme deficiency. It affects infants, children, and adults and can lead to life-threatening complications. It is caused by a mutation in the acid alpha-glucosidase (GAA) gene which is responsible for creating the lysosomal enzyme acid alpha-glucosidase. Without this enzyme, a byproduct of sugar metabolism called glycogen builds up in muscle cells, resulting in muscle weakness, organ dysfunction, and sometimes paralysis.

What are the Symptoms of Pompe Disease?

The severity and symptoms of Pompe disease vary based on the age at which it is diagnosed. Infants and children often experience life-threatening complications due to the rapid progression of the disease. Symptoms may include muscular weakness, enlarged heart and liver, pulmonary problems, trouble feeding, slower than normal growth rate, low muscle tone, and respiratory distress.

What are the Treatment Options for Pompe Disease?

Treatment options for Pompe disease include enzyme replacement therapy, genetic testing, physical therapy, speech therapy, occupational therapy, and nutritious dietary support. Enzyme replacement therapy replaces the missing enzyme and is generally given by a weekly infusion. Genetic testing helps to confirm a diagnosis and identify other family members who may be carriers. Physical, speech, and occupational therapies help to maintain mobility, communication abilities, and functional skills. A nutritious diet of nutrient-dense foods is important for patients with Pompe disease.

Pompe Disease Prevention and Support

There is no cure for Pompe disease, but early diagnosis and treatment can significantly improve quality of life. Genetic screening and counseling can help identify carriers and affected individuals. Support groups are also available to provide emotional and practical support to people with Pompe disease and their loved ones.

Supportive Measures for Patients with Pompe Disease

  • Regular checkups with a physician to monitor organ function.
  • Regular exercise and stretching to build and maintain muscle strength.
  • Maintain a nutritious, balanced diet.
  • Follow instructions for taking enzyme replacement therapy.
  • Follow instructions for using assistive devices and mobility aids.
  • Build a strong support network.
  • Participate in recreational activities and physical therapy.