Signs and symptoms

Despite the shared underlying acid α-glucosidase (GAA) enzyme deficiency, variability in enzyme activity leads to a broad spectrum of illness amongst patients with Pompe disease.

Considerable intrafamilial phenotypic variability has been reported.Because clinical manifestations of Pompe disease within the same family can be very different it is important to be aware of the signs and investigate symptoms in the entire spectrum of the disease in patients’ siblings to avoid diagnostic delays.2

Pompe disease is suspected in patents presenting with the following symptoms:3

Infantile-onset Late-onset
  • Poor feeding/failure to thrive
  • Motor delay/muscle weakness
  • Respiratory concerns (infections/difficulty)
  • Cardiac problems (shortened PR interval with a broad, wide QRS complex, cardiomegaly, left cardiomyopathy)
  • Proximal muscular weakness
  • Respiratory insufficiency
  • Without clinically apparent cardiac involvement





  1. 1.Kemper AR. The Condition Review Workgroup. Evidence Report: Newborn Screening For Pompe Disease. 2013. [cited 17/12/2015] Available here.
  2. 2.Papadopoulos C, Papadimas GK, Michelakakis H, Kararizou E, Manta P. Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease. Mol Genet Metab Rep. 2014;1:2-4.
  1. 3.Leslie N, Tinkle BT. Glycogen Storage Disease Type II (Pompe Disease). In: Pagon RA, Adam MP, Ardinger HH, al e, editors. GeneReviews® [Internet]. 1993-2015. Seattle (WA): : University of Washington, Seattle; 2013 [Updated 2013]. Available from: