Disease Progression

Pompe disease is described as a progressive disease because it gets worse over time. The progressive nature of Pompe disease is a result of its underlying cause: the ongoing buildup of a substance called glycogen inside muscle cells. As excess glycogen continues to accumulate, it interferes with normal cell function and causes continuous damage to cells, resulting in worsening muscle weakness that can affect movement, breathing, and, in infants, heart function.

Learn more about the underlying cause of Pompe disease 

Pompe disease has a single underlying cause in all patients, the absence or marked defiency of the enzyme, acid alpha-glucosidase (GAA) but it often affects patients differently.[1], [2]

While it is always progressive for every patient—muscle weakness always gets worse over time—there is great variability from one person to another in:

  • The age at which symptoms first appear
  • The speed, or rate, of progression
  • Exactly which muscles are affected

The presentation of Pompe disease is highly variable, always progressive, and often debilitating.

Age of Onset: When Symptoms First Appear

Although the genetic defect that causes Pompe disease is always present at birth, symptoms may first show up at any time from infancy through adulthood.

Disease Course in Infants

When symptoms first appear in infancy (during the first few months of life), Pompe disease generally progresses very rapidly and is almost always fatal by the age of 1 year, usually from heart and/or breathing failure.[3, 4]

Learn more about signs and symptoms in infants 

The very rapid disease progression seen in infants makes prompt diagnosis particularly important, so that disease management can begin as early as possible.

Disease Course in Children & Adults [3-5]

In children and adults, Pompe disease is progressive, often causing great difficulties as muscles weaken, especially those used for breathing, walking, and other movements. Many patients eventually rely on ventilators to help them breathe and wheelchairs to get around.

An individual could have mild symptoms and slow progression over many years, or symptoms that progress rapidly. Because the course of the disease is hard to predict, careful monitoring is important to address changes in health status, as they arise.

Learn more about signs and symptoms in children and adults 

References

  1. 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.
  2. Kishnani PS, Steiner RD, Bali D et al. Pompe disease diagnosis and management guideline. Genet Med 2006 8:267-88.
  3. 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.
  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. Wokke J, Escolar D, Pestronk A, Jaffe K, Carter G, van den Berg L, et al. Clinical features of late-onset Pompe disease: A prospective cohort study. Muscle Nerve 2008;38:1236-45.

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