Pompe Disease Symptoms and Treatment

Pompe disease (also called as Glycogen Storage Disease II or Acid Maltase Deficiency or Alpha Glucosidase Deficiency) is a rare neuromuscular disorder estimated to happen to 1 in every 40,000 births. It is a genetic disorder and often fatal, disabling the heart and the muscles.

Causes of Pompe Disease

The Pompe disease is genetically inherited and caused by mutations in a gene that that produces an enzyme called alpha glucosidase (GAA).  Under normal conditions, the human body utilizes this GAA to disintegrate glycogen (a stored form of sugar in the lysosome of each cell) into usable energy. But under conditions of Pompe disease, the body is unable to break down the stored glycogen into usable energy as a result of which the unused glycogen accumulates in the lysosomes of the cells located throughout the body causing serious harm to the functioning of the heart and the skeletal muscles.

Forms of Pompe Disease

The Pompe disease is classified into various forms depending upon the age of onset. There are four primary forms of the disease:

  • The classic infantile Pompe disease: This particular form is the consequence of a complete or almost complete deficiency of GAA, causing symptoms to show up as early as the first few months of birth.
  • The non-classic infantile Pompe disease
  • The juvenile Pompe disease: This form is the result of a partial deficiency of GAA, triggering an onset that can be as early the first decade of childhood.
  • The adult Pompe disease

Symptoms of Pompe Disease

Up to 70 different mutations in the GAA gene that are the causal agents of the Pompe disease have been identified by researchers till date. These mutations may vary in terms of age of onset and the severity.

Symptoms of the classical form of Pompe disease that begin within the first few months of child birth include but may not be limited to:

  • severe loss of muscle tone
  • slow and progressive muscle weakness
  • enlargement and thickening of the heart, and,
  • feeding and respiratory problems

Symptoms of the non-classic infantile form are similar to the classic form, except for the enlargement of the heart.

In contrast, symptoms of the juvenile form mostly begin after age of two and are characterized by a loss of muscle tone.

Symptoms of the adult form comprise slow, progressive muscle weakness and respiratory difficulties.

Treatment of Pompe Disease

A patient experiencing the fatal Pompe disease is best treated by a team of medical practitioners comprising of a cardiologist, neurologist, and a respiratory therapist. Common treatments employed for treating the disease include the enzyme replacement therapy to reduce the size of the heart, improve functioning of the muscles, tone them and strengthen them, and to reduce deposition of glycogen in the cells of the body. The drug alglucosidase alfa (FDA approved) is most commonly used for the treatment of infants and children suffering from the Pompe disease.

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