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Rare Diseases 2023

Doença de Pompe: what é, symptoms and treatment

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Doença de Pompe: what é, symptoms and treatment
Doença de Pompe: what é, symptoms and treatment
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Pompe disease is a rare neuromuscular disorder of genetic origin characterized by progressive muscle weakness and cardiac and respiratory changes, which may manifest in the first 12 months of life or later during childhood, adolescence or adulthood.

Pompe disease arises due to the deficiency of an enzyme responsible for the breakdown of glycogen in muscles and liver, alpha-glycosidase-acid, or GAA. When this enzyme is not present or is found in very low concentrations, glycogen starts to be accumulated, which causes the destruction of muscle tissue cells, leading to the onset of symptoms.

This disease has no cure, however it is very important that the diagnosis is made as early as possible so that there is no development of symptoms that compromise the person's quality of life.Despite having no cure, Pompe's disease is treatable through enzyme replacement and physical therapy sessions.

Main symptoms

Pompe disease is a genetic and hereditary disease, so symptoms can appear at any age. Symptoms are related according to enzyme activity and amount of accumulated glycogen: the lower the GAA activity, the greater the amount of glycogen and, consequently, the greater the damage to muscle cells.

The main signs and symptoms of Pompe Disease are:

  • Progressive muscle weakness;
  • Muscle pain;
  • Unsteady gait on tiptoe;
  • Difficulty climbing stairs;
  • Respiratory difficulty with subsequent development of respiratory failure;
  • Difficulty chewing and swallowing;
  • Disabled motor development for age;
  • Lower back pain;
  • Difficulty getting up from sitting or lying positions.

Also, if there is little or no activity of the GAA enzyme, it is possible that the person also has an enlarged heart and liver.

How to confirm the diagnosis

The diagnosis of Pompe disease is made by collecting some blood to assess the activity of the GAA enzyme. If there is little or no activity, a genetic test is performed to confirm the disease.

It is possible to diagnose the baby while it is still in gestation, through amniocentesis. This exam should be done in the case of parents who have already had a child with Pompe disease or when one of the parents has the late form of the disease. DNA testing can also be used as a support method in the diagnosis of Pompe disease.

How the treatment is done

The treatment for Pompe's disease is specific and is done with the application of the enzyme that the patient does not produce, the alpha-acid-glucosidase enzyme. In this way, the person starts to degrade glycogen, preventing the evolution of muscle damage. The enzyme dose is calculated according to the patient's weight and the application is made directly into the vein every 15 days.

The results will be better the earlier the diagnosis is made and the treatment implemented, which naturally reduces the cellular damage caused by the accumulation of glycogen, which is irreversible and, thus, the patient will have a better quality of life.

Physiotherapy for Pompe disease

Physiotherapy for Pompe disease is an important part of the treatment and serves to strengthen and increase muscle resistance, which should be guided by a specialized physiotherapist. In addition, it is important that respiratory physiotherapy is performed, since many patients may have difficulty breathing.

Complementary treatment with a speech therapist, pulmonologist and cardiologist and psychologist together in a multidisciplinary team is very important.

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