Clinical presentation

Most common signs and symptoms

All patients with Pompe disease 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 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. . Infants typically present with pronounced hypotonia and severe  cardiomegaly 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 . Other signs include frequent respiratory infections, failure to reach motor milestones and difficulty feeding.

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

Signs of Pompe disease in infants

Signs of Pompe disease in children and  adults American Association of Neuromuscular & Electrodiagnostic Medicine. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009;40(1):149-160. Mellies U, Ragette R, Schwake C, et al. Sleep-disordered breathing and respiratory failure in acid maltase deficiency. Neurology 2001 Oct 9; 57(7): 1290-5

Signs of Pompe disease in children and adults