Infantile-Onset Pompe Disease

The diagnosis of infantile-onset Pompe disease (IOPD) can be a devastating one for an infant’s family and support system.

Getting familiarized with the latest diagnostic criteria and screening information can help you make correct, timely clinical decisions to keep the patient, patient’s family and their support system prepared for the challenges ahead.

Diagnosing IOPD

Signs and symptoms of IOPD appear in the first year of life, with the hallmark sign of marked cardiomegaly in classic IOPD differentiating it from non-classic IOPD. To get information on classification and diagnosis of IOPD, visit Diagnosing IOPD

Impact of IOPD

After a diagnosis, families may find themselves reading about “floppy baby” and an enlarged heart. The severity and rapid progression of classic IOPD can lead to tough questions about the prognosis of the infant. Consult with Impact of IOPD to get the tools you need to appropriately relay this information.

Management of IOPD

Management of IOPD symptoms requires a multidisciplinary approach and ongoing assessment. Use the information in Management of IOPD to assist with the management and assessment plan for the infant