Pompe India > What is Pompe

What is Pompe

What is Pompe Disease?

  • Rare neuromuscular disorder.
  • Inherited by a defective gene from parents.
  • A progressive disease, (gets worse over time).
  • Causes progressive muscle weakness and loss of muscle tissue.
  • Also called as –
    • Glycogen Storage disease (GSD) type II
    • Acid Alpha-glucosidase dificiency
    • Acid maltase dificiency (AMD)
    • Glycogenosis II
    • Lysosomal alpha-glucosidase dificiency.

Cause of Pompe disease

  • Defect in a gene named GAA
  • GAA is responsible for making enzyme called acid alpha-glucosidase.
  • The job of acid alpha-glucosidase is to break down glycogen (a form of sugar stored in muscle cells)
  • People with Pompe have either missing or short supply of this enzyme.
  • Considered as a glycogen storage disease.
  • Named after Dutch doctor J.C. Pompe (1932).
Common symptoms
Muscles: Severe muscle weakness in legs and hips.Difficulty climbing stairs, getting up from chair.Frequent trips and falls.
Lungs: Difficulty in breathing.Frequent respiratory infections such as bronchitis, pneumonia.
Digestive Tract: Difficulty in gaining or maintaining weight.
Heart: Enlarged heart and Cardio Myopathy

Forms of Pompe disease

  • Infantile-onset
    • Shows in the first few months of life.
    • Rapid and mostly fetal before the age of one.
  • Late-onset
    • Shows ups after one year of age.
    • Progress is slow, but presents significant challenge as muscle weakens.

Who gets it?

  • Men or women.
  • All ethnic groups.
  • There are about 5000 Pompe patients in the world.
  • Rare -1 in 40,000 live births.
  • India – presently there are 11 patients

Diagnosis

  • Diagnosing Pompe disease challenging.
  • Symptoms often develop slowly & may not show up at the same time.
  • Easier to diagnose the infantile-onset form because of the rapid progression and more pronounced symptoms.
  • A conclusive diagnosis requires an enzyme assay test to demonstrate that the patient has deficient enzyme (acid alpha-glucosidase, “GAA”) activity. This is determined by performing tests on a tissue (muscle, skin) or blood sample to verify that the patient’s GAA enzyme activity is low or absent.
  • India – presently there are 11 patients
    Prenatal screening can be done for parents who think they may be carriers.

Pompe resources

Resources by International Pompe Association (IPA)

Highslide for Wordpress Plugin