What Is the Life Expectancy of Someone With Pompe Disease?

Pompe disease is an unusual genetic disorder.

Pompe disease (type II glycogen storage disease) is an inherited genetic disorder caused by the buildup of glycogen (a type of sugar) in the body's cells that inhibits the function of muscles, organs, and tissues.

Symptoms of Pompe disease include muscle symptoms such as weakness and cramps.

Symptoms of Pompe disease in infants include the following:

• Feeding difficulties
• Difficulty breathing
• Enlarged tongue
• Poor muscle tone
• Enlarged heart (cardiomegaly)
• Congestive heart failure
• Systolic heart murmur
• Enlarged liver (hepatomegaly)
• Slowed or absent reflexes
• Decreased alertness

Symptoms of Pompe disease (type II glycogen storage disease) in adults include

• weakness of arm, leg, and pectoral muscles and
• respiratory muscle weakness.

A genetic mutation inherited from both parents causes Pompe disease. If a child only inherits the defective gene from one parent, he or she will not acquire the disease.

In addition to a history and physical exam, medical professionals diagnose Pompe disease (type II glycogen storage disease) with a number of tests.

Lab studies that help to diagnose Pompe disease (type II glycogen storage disease) include the following:

• Creatine kinase
• Fasting glucose is indicated
• Urine studies
• Liver function studies
• Biochemical assay

Imaging studies used to diagnose Pompe disease (type II glycogen storage disease) include

• angiography or magnetic resonance angiography (MRA) and
• echocardiogram

Other tests and procedures that help to diagnose Pompe disease (type II glycogen storage disease) include

• Ischemic forearm test
• Electromyelography
• Electrocardiography (ECG)
• Muscle biopsy

There is no cure for Pompe disease (type II glycogen storage disease), but treatment aims to reduce symptoms.

Treatments for Pompe disease include the following:

• Enzyme replacement therapy (ERT) with alglucosidase alfa (Lumizyme, Myozyme)
• Dietary changes such as a high-protein diet to help reduce liver size, prevent low blood sugar (hypoglycemia), aid in reduction in symptoms, and allow for growth and development
• Liver transplantation

Complications of Pompe disease (type II glycogen storage disease) include the following:

• Bone fractures
• Facial muscle weakness
• Speech disorders
• Difficulty swallowing
• Obstructive sleep apnea
• Central hypoventilation
• Premature appearance of public hair

Complications in late-onset disease are generally mild to moderate and often related to infusion-related reactions, such as rash, skin redness, facial redness, fast heart rate, feeling of having something stuck in the throat, itching, vomiting, and high blood pressure (hypertension).

The infantile form of Pompe disease (type II glycogen storage disease) is usually fatal, and most patients die within 1 year of birth. Enlarged heart with progressive obstruction to left ventricular outflow is a major cause of death. Weak breathing muscles as well as problems with swallowing leads to an increased risk of pneumonia.

Symptoms of the adult form of Pompe disease include peripheral muscle weakness and respiratory muscle weakness, which can contribute to a worse outcome and shortened life expectancy.

Glycogen deposits within the blood vessels may result in a brain aneurysm.