Getting Diagnosed

A complex and rare disorder, Pompe disease can be challenging to identify. Because of its progressive nature—it always worsens over time—it is important to diagnose Pompe disease as early as possible, so that appropriate patient care can begin promptly.

The Diagnostic Experience[2]

Getting diagnosed for Pompe disease can be a long and complicated process. It often involves several different doctors and a variety of tests, since symptoms may affect many areas of the body. Usually doctors need to first rule out other more common disorders that share similar symptoms with Pompe disease.

The experience is usually different for infants than for older patients because of the differences in how the disease affects these age groups.

Identifying the Disease in Infants[2]

Most infants with Pompe disease have severe symptoms that require immediate attention.

After seeing a physician, infants will usually undergo tests on their heart, lung, and muscles. An x-ray showing an enlarged heart—the characteristic sign of Pompe disease in infants—often alerts doctors to test for the disease.

Learn more about the signs and symptoms of Pompe disease in infants 

Identifying the Disease in Children & Adults[2]

Among older patients, symptoms may emerge much more gradually and are not specific.  It may take several visits, sometimes over months, before a confirmatory test is performed, especially if doctors are not familiar with Pompe disease. Often the combination of progressive (worsening) muscle weakness and breathing difficulties will alert doctors to test for the disease.

Learn more about the signs and symptoms of Pompe disease in children and adults 


  1. Winchester B, Bali D, Bodamer O, Caillaud C, Christensen E, Cooper A, et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab 2008;93:275-81.
  2. Kishnani PS, Steiner RD, Bali D et al. Pompe disease diagnosis and management guideline. Genet Med 2006 8:267-88.

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