Pompe disease, the must-not-miss diagnosis: A report of 3 patients


Correspondence to: A. Dubrovsky; e-mail: dubro@fibertel.com.ar


Introduction: Pompe disease is a progressive and debilitating neuromuscular disorder that presents with a heterogeneous array of signs and symptoms including proximal muscle weakness, respiratory insufficiency, and/or elevated creatine kinase levels. It mimics other neuromuscular disorders, making its diagnosis challenging and often significantly delayed, thereby increasing morbidity and early mortality of the disease. Methods: Three Pompe disease patients are discussed to highlight the challenging path to diagnosis and the common cluster of symptoms that could lead to timely and accurate diagnosis. Results: After significant delays in diagnosis, Pompe disease was diagnosed on the basis of the pattern of proximal weakness. Conclusions: Suspicion and recognition of the characteristic symptoms of Pompe disease may improve both the timing and accuracy of the diagnosis, which will improve clinical outcomes and minimize disease progression. Muscle Nerve, 2013