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Pompe Disease

Dealing with the Diagnosis of Pompe Disease

By Teri Brown

Like the childhood form, this type progresses slowly and seems to be more conducive to respiratory problems than heart problems. Walking also becomes more difficult as weakness in the muscles increases.

How severe the disease becomes and how quickly it progresses depends on how much, if any, of the enzyme is present.

For the Assinks, Megan's test was as simple as running an EKG when she turned 6 weeks old. The heart, as they feared, was enlarged and the walls were thickened. They then ran other tests to confirm.

If the disease is suspected, a biochemical test is performed to check for a deficiency of the acid maltase enzyme. This deficiency can be shown with a muscle biopsy or cultured cells from a skin biopsy.

"The circumstance under which one might choose to do genetic screening for mutations in unaffected individuals is when they may be carriers (such as unaffected siblings or close relatives of patients with the disease) and they are contemplating having children together," Dr. Plotz says. "If both turn out to be carriers, their offspring have one chance in four of inheriting a mutated copy from each parent and thus will get the disease."

Until recently, treatment has consisted of trying to relieve the stress on the muscles and keeping the breathing clear. Though a protein-rich diet is usually prescribed, the results, though positve, are minimal.

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