Pompe Disease

UKNOW’s Docs Diagnosis 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).

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.

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

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.

Information taken from; http://muscle.ca/discover-md/types-of-neuromuscular-disorders/


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