FAQ

Pompe disease is a rare and progressive genetic disorder, which results from the abnormal buildup of a sugar molecule called glycogen within the cells of various tissues, especially muscles. Symptoms of excess glycogen are varied and can include muscle weakness, motor difficulties, poor reflexes, spine curvature, and heart muscle damage.

About 1 in 40,000 people in the U.S. are thought to be affected by Pompe disease.

Pompe disease can be caused by many different mutations in the GAA gene,which encodes for an enzyme called acid alpha-glucosidase. This enzyme is required to breakdown the complex sugar glycogen into simple sugars, like glucose, which are used by the cells to produce energy.

Pompe disease is inherited by an autosomal recessive manner. Which means  two copies of the defective gene are needed for the symptoms to occur in a person.

There are two types of Pompe disease, and they are classified by age at onset and severity of the symptoms. The two types are infantile onset and late onset.

No. Pompe disease cannot be contracted through physical contact with an affected person, it is inherited.

The infantile forms of Pompe can be fatal, and immediate care is required upon diagnosis. Late-onset Pompe progresses more slowly and is often more mild.

Currently, there is no cure for Pompe disease, but it's symptoms can be managed and there are a variety of treatment options available.

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Enzyme Therapy, physical and occupational therapy are among the options. Experimental therapies being studied and tested include gene therapy and chaperone therapy.