Pompe Disease

What is Pompe disease?

Pompe disease is a rare, inherited neuromuscular disorder that causes progressive muscle weakness and loss of muscle tissue.

Pompe disease goes by many different names:

  • Acid alpha-glucosidase deficiency
  • Acid Maltase Deficiency (AGM)
  • Glycogen Storage Disease Type 2
  • Lysosomal alpha-glucosidase deficiency

Pompe disease can occur between infancy and adulthood, and affects both men and women equally. Approximately one-third of people with Pompe disease are infants (infantile-onset) while the other two thirds are children or adults (late-onset).

What causes Pompe disease?

Pompe disease is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). The job of this enzyme is to break down glycogen, a form of sugar stored in muscle cells throughout the body. In people with Pompe disease, this enzyme is either missing or in short supply.

What are the symptoms?

The symptoms and severity of Pompe disease can vary widely from person to person.

Symptoms associated with the infantile-onset form may include:

  • feeding and breathing difficulties
  • an enlarged heart, tongue, and liver
  • inability to gain weight
  • a “frog-like” leg position
  • breathing problems and frequent respiratory infections

Symptoms associated with the late-onset form may include:

  • chewing and swallowing difficulties
  • lower back pain
  • scoliosis
  • frequent falls
What treatment is available?

Enzyme replacement therapy (ERT) has the ability to treat the underlying cause of the disease. Though ERT is not a cure, providing the missing enzyme may slow the progression of muscle weakness and improve muscle function.

Treatment options also include supportive care, such as:

  • Respiratory therapies and ventilator assistance
  • Physical therapy
  • Occupational therapy

Speak with your health care provider about treatment options that are right for you.


Understanding Pompe Disease from Diagnosis to Action

This booklet provides information about Pompe disease and how it is diagnosed and managed. It also offers practical tips on living with Pompe disease.


Useful Links

Acid Maltase Deficiency Association

Assists in funding research and promotes public awareness about Pompe disease.

Association for Glycogen Storage Disease

Organizes an annual family/medical conference for those affected with GSD, their families, and medical professionals involved in treatment or research of any type of GSD.

International Pompe Association

A federation of Pompe disease patient groups world-wide. It seeks to coordinate activities and share experience and knowledge.

Pompe Canada

Helps people become familiar with Pompe disease and supports those with the disorder.

Pompe Community

Offers comprehensive information about Pompe disease as well as resources and support.

Pompe Registry

Helping to improve the quality of care for patients through research and collaboration.

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