Treatment of Pompe disease: medication, exercise, diet or artificial ventilation

Replacing the missing enzyme

The beginning of the 21st century has brought very good news for Pompe disease patients. A cure for a previously untreatable disease has been introduced, namely enzyme replacement therapy with recombinant alpha-glucosidase.

This enzyme is injected into a vein every two weeks. The earlier the disease is diagnosed and the earlier the replacement therapy is started, the better results we can achieve with the treatment.

The therapy is effective in all three forms of the disease. It has been shown to significantly reduce the need for artificial pulmonary ventilation, alleviate heart muscle damage, improve muscle mobility and generally reduce the risk of premature death.

Artificial pulmonary ventilation

Some patients suffer from early damage to the respiratory muscles. These are rapidly progressive forms of Pompe disease.

In such cases, the patient stops breathing independently quite soon after the first symptoms and diagnosis of the disease, respiratory insufficiency occurs.

Symptomatic treatment of such patients is invasive or non-invasive artificial pulmonary ventilation.

If the difficulties are worst at night, non-invasive pulmonary ventilation is used. It promotes and assists breathing at night, which greatly relieves daytime fatigue and sleep disturbances.

Exercise

Despite muscle weakness, patients with Pompe disease should exercise regularly. Light physical activity, aerobic exercise, stretching, walking, rehabilitation and balneotherapy are most appropriate.

With regular physical activity, glycogen breakdown and fatty acid utilization is faster.

Strenuous strength training is not recommended because it leads to high protein consumption and even greater muscle loss.

Diet

A high-protein, low-carbohydrate diet is recommended. Such a diet can slow muscle loss, maintain a healthy heart and functional respiratory muscles.