THE Pompe's disease, also known as type IIa glycogenosis, is an autosomal recessive disease characterized by the deposition of glycogen in the lysosomes. It occurs due to the deficiency of a enzyme called alpha-glucosidase-acid, responsible for carrying out the breakdown of lysosomal glycogen. The disease is relatively rare and it is believed that there are between 1,000 and 3,500 people with the disease in our country.
The accumulation of glycogen in lysosomes mainly affects the muscle cells, however it can reach different tissues. In skeletal muscle tissue, there is a progressive loss of its ability to contract and replace it with fibrotic tissue. By losing the ability to contract muscle tissue, the patient with Pompe disease is unable to perform their motor activities. It is important to emphasize that the symptoms are directly related to the amount of alpha-glucosidase-acid enzyme in each patient.
Pompe disease can be divided into two types: the infantile form and the late-onset disease. THE
child shape it affects the patient a few months after birth and causes death in the first year of life. already the late onset disease, usually appears after the first year of life and its progression is slow. It is worth noting that the infantile form is much more infrequent than the late one, with an incidence of 1:138.000 against 1:57,000.At infantile form of Pompe disease a child is seen with severe muscle weakness, hypotonia, progressive respiratory failure, delayed motor development, eating problems, sleep disturbances and cardiomyopathy, an increase in muscle cardiac. In these cases, symptoms begin in the first two months of life and, on average, the diagnosis is only made after 5 months. Death usually occurs as a result of cardiorespiratory failure.
At late onset disease cardiomyopathy is generally not observed. There is muscle weakness, especially in the lower limbs, which makes it difficult to move and perform various other motor activities. In addition, the patient may experience fatigue, muscle pain, difficulty breathing during sleep, difficulty eating and constant falls. Over time, the patient depends on wheelchairs and may need breathing equipment. Death in these cases usually results from respiratory failure.
To get the diagnosis of the disease, the dosage of the enzymatic activity and genetic analysis are necessary. Other tests can help identify the disease, such as X-rays in infantile forms, which may indicate cardiomegaly. Early diagnosis is essential for treatment to avoid permanent damage and increase the quality of life of patients, allowing a practically normal life.
Pompe's disease has no cure, however treatments with enzyme replacement they can delay the disease picture, enabling a better quality of life. Replacement therapy is based on the administration of recombinant human alpha-glucosidase by intravenous infusion. It is also important that the patient undergo physical therapy and monitoring of respiratory function.
When he notices any difficulty in walking or muscle weakness, he should immediately see his doctor.
By Ma. Vanessa dos Santos
