Clinical manifestations in Infants with Pompe Disease

Pompe disease was first diagnosed in an infant patient who died of idiopathic cardiac hypertrophy.[1], continues to be a very important sign in infants with Pompe disease,[2] in combination with hypotonia and generalized muscle weakness.[2], [3]

Signs Overview

Initial Presentation

Infants affected by Pompe disease usually present within the first few months of life and sometimes very soon after birth. The main clinical signs are profound hypotonia/generalized muscle weakness, often manifesting in head lag and a “floppy baby” appearance, and marked cardiomegaly, a key sign of the disease that appears in an estimated 92-95% of all infant patients.[2], [4] Respiratory difficulties due to a diaphragmatic weakness are very common. Moderate hepatomegally and macroglossia may be observed, and feeding difficulties are also often present.

See the comprehensive signs list (below)

Ongoing Progression

The disease typically progresses rapidly as muscle deterioration advances:

  • Cardiac complications usually progress to cardiac failure and death before the age of one year[2], [4], [5]
  • Respiratory difficulties from a weakened diaphragm and other respiratory muscles can lead to frequent pulmonary infections[2], [4], [5]
  • Spontaneous movements decline and the infant fails to meet motor milestones,[5]
  • Feeding problems, including difficulty sucking and swallowing, lead to poor weight gain[2], [4], [5] and general failure to thrive

Some infants may present somewhat later (although still before 12 months of age) and exhibit a slower progression of cardiomyopathy.[2], [3]

Infants symptom interactive

Comprehensive List of Signs in Infants

Following is a more detailed list of possible signs that may appear in infants with Pompe disease.

Musculoskeletal[2], [4], [5]

Progressive muscle weakness and profound hypotonia, resulting in:

  • Profound and rapidly progressive muscle weakness (hypotonia, floppy baby syndrome, head lag)
  • Delayed motor milestones


  • Frequent respiratory infections
  • Progression to respiratory failure
  • Premature death due to cardiorespiratory failure
  • Sleep disordered breathing


  • Marked cardiomegaly/cardiomyopathy
  • Progression to cardiac failure


  • Difficulty feeding/failure to thrive
  • Organomegaly (hepatomegaly, macroglossia)

Laboratory Test Results[2], [5], [6]

  • Markedly elevated plasma creatine kinase (CK)
  • Elevated aspartate aminotransferase (AST) and alanine aminotransferase (ALT)


  1. Pompe J-C. Over idiopatische hypertrophie van het hart. Ned Tijdschr geneeskd 1932; 1932:304
  2. Hirschhorn, Rochelle and Arnold J. J. Reuser. Glycogen Storage Disease Type II: Acid Alpha-glucosidase (Acid Maltase) Deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill, 2001. 3389-3420.
  3. Slonim AE, Bulone L, Ritz S et al. Identification of two subtypes of infantile acid maltase deficiency. J Pediatr 2000 Aug;137(2):283-5.
  4. 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.
  5. Van den Hout HMP. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatr 2003 Aug; 112 (2): 332-340.
  6. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med 2006; 8:267-88.

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