Earlier Referral to Specialists Can Speed Up Pompe Disease Diagnosis, Study Finds

According to a story from Pompe Disease News, a recent study has found that delays in diagnosis are closely connected to whether someone displaying symptoms of Pompe disease is referred to an expert center. Patients that were referred to a specialist more quickly after displaying symptoms were successfully diagnosed much more quickly than those that were not or who waited longer to see a specialist.

About Pompe Disease

Pompe disease, which is also known as glycogen storage disease type II, is a genetic, metabolic disorder. This disease can cause damage to the nerves and muscles throughout the body, and is the result of the excessive buildup of glycogen in the cellular lysosome. This occurs because of the deficiency of a certain enzyme. The disease is the result of a genetic mutation that appears on chromosome 17. Symptoms of Pompe disease vary depending on when it appears. They can include poor growth, trouble feeding, enlarged heart, poor muscle tone, muscle weakness, and breathing problems. There is also a late onset form that mostly differs by the absence of heart abnormalities. The primary treatment for Pompe disease is enzyme replacement. While this treatment can improve symptoms and survival, a high dosage is necessary and it primarily only halts disease progression. To learn more about Pompe disease, click here.

Delayed Diagnosis: A Problem in Rare Diseases

Like many rare diseases, Pompe disease is incredibly difficult to diagnose based on symptoms alone and it can easily be confused with other neuromuscular disorders. Lack of awareness about the disease means that misdiagnosis or delayed diagnosis are all too common, which has a substantial impact on patient outcomes and the success of treatment.

Study Findings

The study utilized an online survey that included responses from 32 patients. All of these patients ultimately received their final diagnosis from a muscloskeletal or metabolic specialist; patients who visited several different doctors before being referred to an expert center could experience diagnostic delays by as much as 200 percent. 34 percent of the patients were misdiagnosed before visiting an expert center.

Ultimately, the authors concluded that it is best for patients displaying neuromuscular symptoms to be referred to specialists as soon as possible.

The original study can be found in JIMD Reports.


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