Life is a health journey that for some starts by being born with a rare genetic disorder. There are more than 7,000 rare diseases in the world, and 30% of children affected die before reaching their 5th birthday.

Pompe Disease

Photo of 5 kids sitting on a bench

Pompe disease is a rare inherited neuromuscular disorder that causes progressive muscle weakness in people of all ages. Pompe disease is caused by a defective gene that results in a deficiency of an enzyme, acid alpha-glucosidase (pronounced “AL-fa glue-CO-sih-days” and often abbreviated GAA). The absence of this enzyme results in excessive build-up of a substance called glycogen, a form of sugar, in a specialised compartment of muscle cells throughout the body.

Signs & Symptoms

Although the effects of Pompe disease vary from patient to patient, some generalisations can be made. Most patients experience muscle weakness in the arms and legs, usually most prominently in the legs, making walking or climbing stairs difficult. Muscles used for breathing may frequently be affected, making it difficult to breathe, especially when lying down. In infants, the heart is usually affected, resulting in greatly enlarged heart and other heart problems.

Diagnosing Pompe Disease

After examining a patient’s symptoms and reviewing the results of several different tests, doctors may ultimately come to suspect Pompe disease. A conclusive way to confirm this diagnosis is by measuring the activity of the acid alpha-glucosidase (GAA) enzyme, which is always lower than normal in people with Pompe disease. The test used for this is called an enzyme assay. Today, enzyme assays can be performed with simple blood tests that provide fast and accurate results

Pompe Disease Inheritance

Even though Pompe disease is very rare, it can be inherited, meaning that it gets passed on to people through their parents. If someone is diagnosed with the disease, there is a risk that relatives may also have the disease or be carriers. The symptoms of Pompe disease can emerge very slowly and at any age, so it is possible for someone to have it even if they are not experiencing any apparent problems. Because early diagnosis is so important in managing the disease, families with a history of it may want to consider several testing options.

Treatment

It is treated with an enzyme that is administered intravenously every 2 weeks and replaces the enzyme that is deficient.