Recognizing Pompe disease, a progressive, debilitating and often fatal neuromuscular disease caused by a genetic deficiency or dysfunction of the lysosomal enzyme acid alpha-glucosidase (GAA), can be challenging, as its signs and symptoms are like those of other diseases and disorders. As a result, Pompe disease may not be readily considered during the clinical work up and significant diagnostic delays are common in many patients.
During this activity, we shall review the importance of early diagnosis, how the disease can present at different ages through sample case vignettes, as well as discuss advances in the ongoing monitoring and management of these patients. Early recognition is critical for improved outcomes since the disease continues to progress relentlessly, with many patients going undiagnosed for years, with debilitating and often life-threatening impact.
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