Clinical presentation

Most common signs and symptoms


Patients with Pompe disease usually exhibit progressive muscular weakness. Proximal limb and respiratory muscles are the most commonly affected across all ages, while cardiomyopathy is the hallmark sign in infants.1 Infants typically present with pronounced hypotonia and severe cardiomegaly.2 Other signs include frequent respiratory infections, failure to reach motor milestones and difficulty feeding.

Common clinical manifestations


Children and adults with Pompe disease show much greater heterogeneity than infants with the condition. The most common clinical manifestations are progressive proximal muscle weakness and respiratory insufficiency,3,4 ultimately leading to loss of ambulation and the need for ventilation support. Cardiac involvement is rare in this patient population.


Signs of Pompe disease in infants2-4


Signs of Pompe disease in children and adults5,6.7




1. Hirschhorn R, Reuser AJ.  Glycogen Storage Disease Type II: Acid α-Glucosidase (Acid Maltase) Deficiency. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. Valle D, Beaudet A.L., Vogelstein B, Kinzler K.W., Antonarakis S.E., Ballabio A, Gibson K, Mitchell G Eds. David Valle, et al. eds. New York, NY: McGraw-Hill; 2014. [Accessed November 2014]

2. Kishnani PS, Hwu W-L, Mandel H, Nicolino M, Yong F, Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006; 148:671-676.

3. Winkel LP, Hagemans ML, van Doorn PA, et al. The natural course of non-classic Pompe’s disease; a review of 225 published cases. J Neurol 2006; 252:875-84.

4. Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr 2004;144:S35-43.

5. American Association of Neuromuscular & Electrodiagnostic Medicine. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009;40(1):149-160.

6. Van Capelle CI et al. Childhood Pompe disease: Clinical spectrum and genotype in 31 patients. Orphanet Journal of Rare Diseases. 2016; 11:65

7. Chan J et al. The emerging phenotype of late-onset Pompe disease: A systematic literature review. Molecular Genetics and Metabolism 2017; 120:163-172

GZEMEA.PD.14.11.0313b(1) – June 2018