Signs & Symptoms
The signs and symptoms of Pompe disease vary widely and may first emerge at any age from infancy to late adulthood. These sample patient experiences illustrate how the disease can affect different people differently:
- A 3-month-old baby is admitted to the hospital with breathing problems brought on by a bad cold. An x-ray reveals a greatly enlarged heart.
- A 2-year-old child who has just started walking has an odd walk that is a cross between a waddle and a limp. As an infant, he had trouble turning over and holding up his head.
- A 20-year-old woman becomes winded and her muscles ache when she climbs a flight of stairs.
- A 37-year-old man starts falling asleep during the day and has trouble breathing when he is lying down.
In all cases, Pompe disease is caused by the same underlying problem: an enzyme deficiency that causes buildup of excess glycogen within muscle cells. However, the resulting muscle weakness can affect many different parts of the body and cause a variety of health problems. In some cases, the initial impact may be very serious and progress (worsen) rapidly, while in others it will be less extreme and progress more gradually.
Most Common Effects of Pompe Disease
Although the effects of Pompe disease vary from patient to patient, some broad generalizations can be made. Most patients experience muscle weakness in the arms and legs, usually most prominently in the legs, making walking or climbing stairs difficult. Muscles used for breathing are also often affected, making it difficult to breathe, especially when lying down. In infants, the heart is usually affected, resulting in greatly enlarged heart and other heart problems.
- Infants typically have extreme muscle weakness and a “floppy” appearance. X-rays usually reveal a greatly enlarged heart. Other symptoms include breathing difficulties, trouble feeding, and a failure to meet developmental milestones such as rolling over and sitting up.[1-3]
Learn more about Pompe disease in infants
- Children and adults tend to have greater variety in their symptoms, often includingweakness of the leg and hip muscles, leading to difficulties with mobility, as well as breathing difficulties. Older patients rarely have the heart problems typical in infants.[4-6]
Learn more about Pompe disease in children and adults
Describing the Disease
Today, Pompe disease is usually described as a single disease that manifests as a spectrum of symptoms and rates of progression across patients of different ages.[1-2] However, sometimes terms are used such as “infantile-onset” and “late-onset,” which were historically used to describe the disease in terms of “sub-types” based on patient age at onset of symptoms.
Ongoing Disease Progression
Pompe disease is always progressive, meaning that its symptoms worsen over time. In general, the earlier in life the symptoms appear, the faster the rate of progression. Most infants affected by the disease experience very rapid progression, and they rarely survive past the age of 1 year.[1-6]
When symptoms first appear later in life (children or adults), the rate of progression is generally slower than in infants, although there is great variability across different people. In addition, an abrupt and rapid decline can happen at any time, so careful monitoring of the disease’s progression is very important. Whether the disease progresses fast or slowly, eventually movement and breathing difficulties worsen over time.
Learn more about Pompe disease progression
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..
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.
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.
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.
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.
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.