- Symptoms of Pompe Disease
- Diagnosis of Pompe's disease
- How is the treatment
- Physiotherapy for Pompe's disease
Pompe's disease is a rare neuromuscular disorder of genetic origin characterized by progressive muscle weakness and respiratory changes, which can manifest itself in the first 12 months of life or later during childhood or adolescence.
Pompe's disease arises due to the 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 found in very low concentrations, glycogen starts to accumulate, which causes the destruction of muscle tissue cells, leading to the appearance of symptoms.
This disease has no cure, however it is very important that the diagnosis is made as soon as possible so that there is no development of symptoms that compromise the person's quality of life. Although there is no cure, Pompe's disease is treated through enzyme replacement and physiotherapy sessions.
Symptoms of Pompe Disease
Pompe's disease is a genetic and hereditary disease, so symptoms can appear at any age. Symptoms are related according to the activity of the enzyme and the amount of accumulated glycogen: the lower the activity of GAA, 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 the toes; Difficulty climbing stairs; Breathing difficulty with later development of respiratory failure; Difficulty in chewing and swallowing; Deficient motor development for the age; Pain in the lower back; Difficulty with getting up from sitting or lying down.
In addition, if there is little or no activity of the GAA enzyme, it is possible that the person also has an enlarged heart and liver.
Diagnosis of Pompe's disease
The diagnosis of Pompe's disease is made by collecting a little blood to assess the activity of the GAA enzyme. If little or no activity is found, genetic testing is performed to confirm the disease.
It is possible to diagnose the baby while it is still pregnant, through amniocentesis. This test should be done in the case of parents who have already had a child with Pompe's 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 diagnosing Pompe's disease.
How is the treatment
The treatment for Pompe's disease is specific and is done with the application of the enzyme that the patient does not produce, the enzyme alpha-glucosidase-acid. Thus, the person starts to degrade glycogen, preventing the evolution of muscle damage. The enzyme dose is calculated according to the patient's weight and is applied directly to the vein every 15 days.
The results will be better the earlier the diagnosis is made and the treatment is implemented, which naturally reduces the cellular damage caused by the accumulation of glycogen, which are irreversible and, thus, the patient will have a better quality of life.
Physiotherapy for Pompe's disease
Physiotherapy for Pompe's disease is an important part of treatment and serves to strengthen and increase muscle endurance, which must 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.
