Pompe disease is a rare neuromuscular disease of genetic origin characterized by progressive muscle weakness and heart and respiratory changes, which can occur during the first 12 months of life or later in childhood, adolescence or adulthood.
Pompe disease is due to deficiency of an enzyme responsible for the breakdown of glycogen in the muscles and liver, alpha-glucosidase acid or GAA. When this enzyme is not present or is in very low concentrations, glycogen begins to accumulate, causing the destruction of muscle tissue cells, causing symptoms to appear.
- There is no cure for this disease.
- But it is very important that the diagnosis is made as soon as possible so that no symptoms develop that compromise the quality of life of the person.
- Although there is no cure.
- Pompe disease is treated with physiotherapy sessions and enzyme replacement.
Pompe disease is a genetic and inherited disease, so symptoms can occur at any age. Symptoms are related to enzyme activity and the amount of glycogen accumulated: the lower the GAA activity, the greater the amount of glycogen and therefore the greater the damage to muscle cells.
The main signs and symptoms of Pompe disease are
In addition, if there is little or no activity of the GAA enzyme, the person may also have an enlarged heart and liver.
Diagnosis of Pompe disease is made by extracting some blood to evaluate the activity of the GAA enzyme. If little or no activity is found, a genetic test is done to confirm the disease.
The baby can be diagnosed during pregnancy using amniocentesis. This test should be done for parents who have already had a child with Pompe disease or when a parent has the late form of the disease. DNA testing can also be used as a supportive method for diagnosing Pompe disease.
The treatment of Pompe disease is specific and is performed with the application of the enzyme that the patient does not produce, the enzyme alpha-glucosidase-acid. Thus, the person begins to degrade the glycogen, preventing the progression of muscle damage. The enzyme dose is calculated based on the patient’s weight and applied directly to the vein every 15 days.
The results will be better as the diagnosis is made and the treatment is 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 of Pompe disease is an important part of treatment and serves to strengthen and increase muscle endurance, which should be guided by a specialized physiotherapist. In addition, it is important to have respiratory physiotherapy, as many patients may have shortness of breath.
Additional treatment with a speech therapist, pneumologist and cardiologist and psychologist in a multidisciplinary team is very important.