Pompe Disease in Children & Adults

Among children and adults, the signs and symptoms of Pompe disease can vary widely from one person to another. Many people first experience muscle weakness in the legs and hips as well as breathing difficulties, but there is great variability in the age at which these first appear, their severity, and the rate at which they progress (worsen). Heart problems typically seen in infants are rare among older patients.[1]

See the complete list of signs and symptoms (below)

Signs & Symptoms Overview

This interactive diagram provides an overview of the areas of the body most affected by Pompe disease in children and adults. Roll over and click the illustration or text labels to see more information.

 

Early Signs

The earliest signs of Pompe disease can vary depending on the patient’s age when they first appear. Younger children may not learn to walk, run, or jump at the same age as their peers, or they may lose abilities that they have already achieved.[1], [2] Others may trip or fall frequently as they move around. Adults often first notice difficulties climbing stairs or rising from a seated position.

Breathing-related symptoms often emerge after movement difficulties, but may sometimes occur first. They often first appear as shortness of breath after physical effort, or sometimes as morning headaches and daytime sleepiness that are the result of nighttime breathing difficulties.

Adapting to the Challenges

People with Pompe disease face all kinds of challenges. The increasing difficulties with movement and breathing can make it hard to continue working, perform household tasks, and even take care of their own personal needs.[2], [3-5]

Supportive care, such as physical therapy, use of wheelchairs, ventilators for breathing, and more, can help manage the disease’s symptoms and improve patients’ quality of life.

Learn more about managing the symptoms of Pompe disease 

Comprehensive List of Signs & Symptoms

Following is a full list of possible signs and symptoms that may appear in children and adults with Pompe disease.[1], [6-10] Note that not every patient will necessarily experience all these symptoms.

Muscle & Movement Problems

Pompe disease weakens muscles throughout the body that support the skeleton and enable people to walk, keep their balance, stand up straight, and move freely. Because of the weakness, patients use these muscles less, which can make them stiffen and tighten up, further interfering with normal movement. Symptoms may include:

Progressive muscle weakness, especially in the legs, hips, and torso, which may cause:

  • Walking with swaying hips or a waddle
  • Difficulty climbing stairs, getting up from a chair, or standing up
  • Frequent trips and falls (loss of balance)
  • Development of scoliosis (curvature of the spine) and/or lower back pain
  • Failure in children to meet developmental milestones such as walking, running, or jumping, or loss of those already achieved
  • Eventual inability to walk independently, and a need for wheelchairs or other supportive devices

Find out how physical therapy and other care can help manage movement and mobility difficulties 

Breathing & Respiratory Problems

Pompe disease weakens the diaphragm, a large muscle located in the abdomen just below the lungs, as well as other muscles that help control breathing. This can cause:

  • Breathlessness during and/or after exercise
  • Difficulty breathing, especially when lying down
  • Difficulty breathing during sleep, which may cause problems such as morning headaches and daytime sleepiness
  • A tendency to develop frequent respiratory infections such as bronchitis and pneumonia, because weak muscles make it difficult to breathe deeply enough to clear mucus out of the lungs
  • Respiratory failure, when the body stops breathing on its own, which can lead to early death

Find out how ventilation and other therapy can help manage breathing difficulties 

Eating & Nutrition Problems

  • Difficulty chewing, swallowing, and/or generally eating because of weakened mouth, tongue, and throat muscles
  • Problems gaining or maintaining weight and getting sufficient nutrition because of eating difficulties

Find out how dietary therapy can help contribute to general health 

Disease Progression

In contrast to infants, in older patients the disease tends to progress, or worsen, more gradually. Some people experience only minor disability for years, while others lose the ability to walk or breathe on their own and require additional support.[2], [11] The timeline of progression is highly variable, and despite the significant challenges brought on by the disease, many patients are able to adapt and continue with their lives.

Other Signs

  • Higher than normal levels of creatine kinase (CK) in the blood. [1], [8], [12] CK (also known as CPK) is an enzyme. Because most of the CK in the body normally exists in muscle, a rise in the amount of CK in the blood indicates that muscle damage has occurred, or is occurring.
  • In some patients, rarely, heart rhythm changes[13]

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. Hagemans ML, Winkel LP, Hop WC, Reuser AJ, Van Doorn PA, Van der Ploeg AT. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology 2006 64:2139-41.
  3. Haley SM, Fragala MA, Skrinar AM. Pompe disease and physical disability. Dev Med Child Neurol 2003 45:618-23.
  4. Hagemans ML, van Schie SP, Janssens AC, van Doorn PA, Reuser AJ, van der Ploeg AT. Fatigue: an important feature of late-onset Pompe disease. J Neurol 2007 254:941-5.
  5. Hagemans MLC, Laforet P, Hop WJC et al. Impact of late-onset Popme disease on participation in daily life activities: Evaluation of the Rotterdam Handicap Scale. Neuromuscul Disord 2007 17:537-43.
  6. 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.
  7. 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.
  8. 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.
  9. King, Frank J. Acid Maltase Deficiency Myopathy. eMedicine Specialties. Available at: http://emedicine.medscape.com/article/313724-overview. Accessed January 12, 2010.
  10. Ibrahim, Jennifer. Glycogen Storage Disease Type II. eMedicine Specialties. Available at: http://emedicine.medscape.com/article/947870-overview. Accessed January 12, 2010.
  11. Hagemans ML, Winkel LP, Van Doorn PA et al. Clinical manifestation and natural course of late-onset Pompe’s disease in 54 Dutch patients. Brain 2006 128:671-7.
  12. Kishnani PS, Steiner RD, Bali D et al. Pompe disease diagnosis and management guideline. Genet Med 2006 8:267-88.
  13. Soliman O, van der Beek N, van Doorn P, Vletter W, Nemes A, Van Dalen B, et al. Cardiac involvement in adults with Pompe disease. J Intern Med 2008;264:333-9.

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