Pompe Disease: Causes, Symptoms, Diagnosis, Treatment

Pompe Disease is a rare congenital disorder of the neuromuscular system in which there is progressive muscle weakness. This disease can affect people irrespective of their age. The symptoms of Pompe Disease can be observed right from infancy to when the affected individual becomes a fully grown adult.

The root cause of Pompe Disease is a deficiency of an enzyme called acid alpha-glucosidase. The absence of this enzyme causes excessive accumulation of glycogen in the muscle cells. This collected glycogen starts to affect the structure of the muscles and interferes with its function causing significant muscle weakness. The area which is maximally affected and the degree of severity is variable and differs from individual to individual. To understand the cause one needs to understand the role of enzymes in the body. The enzymes present in the body help in breaking down different substances which facilitate normal functioning of the cells. This whole breakdown occurs in cells called lysosomes. The enzyme acid alpha-glucosidase which is the cause of Pompe Disease facilitates breakdown of glycogen. Glycogen is used in the body for storing energy. When this enzyme is not functioning appropriately or is entirely missing, it results in development of Pompe Disease.

The symptoms of Pompe Disease are extremely variable and may be observed right from infancy until adulthood. In infants the symptoms observed may be difficulty breathing, abnormal gait pattern, inability to roll over, inability to hold the head up.

As an adult the symptoms observed may be shortness of breath with activity, severe muscle aches and pains, severe fatigue, daytime drowsiness, shortness of breath with lying down. All these symptoms discussed above are due to excessive accumulation of glycogen in the body due to Pompe Disease.

Diagnosing Pompe Disease is extremely complex and includes different methods for infants and adults. We will discuss both the scenarios below. The treating physician will first rule out other conditions causing symptoms before looking for this condition.

• Infants: The treating physician will order tests to look at the heart, lung, and muscles bulk and tone. Enlarged heart in infants is the characteristic feature of Pompe Disease in infants
• Children and Adults: The symptoms experienced by children and adults are relatively nonspecific; hence, it may take significant amount of time before a confirmatory diagnosis is established. Usually, muscle weakness accompanied by shortness of breath with activity is the characteristic feature of Pompe Disease in children and adults.

Once a diagnosis of Pompe Disease has been confirmed, the treatment measures are formulated by the physicians. Usually, there is a team of physicians required for formulating a treatment plan. Previously, treatment measures were focused mainly on symptom control as there is no clear cut cure for Pompe Disease, but as technology has advanced there are treatments like Enzyme Replacement Therapy available which replaces the offending enzyme. Regular and diligent followup is a must as the disease progresses. Supportive care is imperative to help with breathing problems, movement, and other symptoms of Pompe Disease.