Pompe Disease Treatment

Pompe disease is a rare neuromuscular genetic disease. Genetic deficiency of an enzyme 'Acid Alpha Glucosidase' (GAA) leads to accumulation of glycogen in every body cell, especially in the heart and other muscles. GAA is required for breaking down the glycogen, a complex carbohydrate which is converted by the body into glucose for energy. There exist several types of glycogen storage diseases and Pompe disease is one of them. It is also known as 'type 2 Glycogen Storage Disease' (GSD II). The disease is named after a Dutch physician, Johann Cassianius Pompe. There are three types of Pompe disease, depending on how aggressive the disease is, which muscles are damaged due to the disease, when the symptoms are first noticed, etc. Pompe disease symptoms may vary according to the type of the disease. Before taking a look at the Pompe disease treatment, let us know the Pompe disease symptoms.

Symptoms of Pompe Disease

Statistics show that in the U.S., about one in 40,000 people is affected by the Pompe disease. It is considered as a fatal disease as it leads to dysfunction of the heart and muscles. Mutations in a gene results in Pompe disease. Build up of glycogen everywhere in the body leads to several difficulties. Build up of glycogen, especially in the heart and muscles eventually leads to death. The age of onset and severity of the symptoms may vary from person to person. It mainly depends upon the degree of enzyme deficiency.

Early onset or Pompe disease in newborns starts exhibiting the symptoms in the first month of life. These infants are born with complete or near complete deficiency of acid alpha glucosidase. Unfortunately, such babies are likely to die from heart diseases or respiratory system complications before their first birthday. The symptoms of infantile Pompe disease include

    Difficulty in feeding

    Poor weight gain

    Weak muscles

    Floppiness

    Head lag, weak or no control over neck muscles

    Breathing difficulty

    Recurring lung infections

    Thickened and enlarged heart

    Heart defects

    Enlarged liver

    Enlarged tongue

    Delayed motor skills (such as rolling over and sitting)

A partial deficiency of GAA can lead to late onset of the Pompe disease. Pompe disease in adults is sometimes discovered in their sixties. It can be discovered in first ten years of life as well. The symptoms include

    Increasing muscle weakness, especially in the legs and trunk

    Increasing weakness of muscles that control breathing

    Weak heart

Severity of the symptoms increase gradually and eventually leads to death due to respiratory failure.

Treatment Options for Pompe Disease

Pompe disease being a genetic disorder, screening for the common genetic mutations helps confirm the diagnosis. Measuring the GAA enzyme level in blood also plays an important role in correct diagnosis of the disease. An expert geneticist can help detect the carriers with the help of genetic mutation analysis. Treatment for Pompe disease involves enzyme replacement therapy. Myozyme has been approved by the FDA and is used to treat Pompe disease. But it is very expensive and needs to be taken for the patient's entire life. For treating the patient, it requires consulting various specialists like cardiologist, neurologist, and respiratory therapist along with various experts from various fields such as speech therapy, physical therapy, occupational therapy, nutritional and dietary therapy, psychosocial therapy, etc. The disease can affect the patients in various ways. So the treatment depends upon the health problems of the patient and the symptoms. Monitoring the effect of the treatment is very essential, especially in newborn infants, when the disease is quite aggressive. Adult patients need to undergo follow-up tests and check-ups at regular intervals. According to the progression of the disease, doctors need to adjust the care and treatment. It is very difficult to anticipate the speed of the progression of the disease. It is difficult to predict exactly when and how the symptoms will change or become severe. More research is needed to confirm the effectiveness of enzyme replacement therapy.

It is a fact that many health care providers do not have sufficient knowledge about the symptoms and treatment of Pompe disease as they are not familiar with it. Genetic testing helps diagnose the disease. Patients usually need additional support from a psychiatrist to overcome the depression which may occur due to the mental and emotional burden of living with such a debilitating disease. A child can develop Pompe disease though the signs and symptoms of the disease are absent in the parents. Pompe disease is also known as Acid Maltase Deficiency disease (AMD). I hope you found the above information regarding Pompe disease treatment and symptoms helpful.