Pompe disease is an inherited disorder caused by the buildup of glycogen, a complex sugar, in the body's cells, which impairs the ability for affected organs, tissues, and muscles to function normally.

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Several different clinical types of Pompe disease have been identified.

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Classic form,  infantile-onset

The classic form of Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness, poor muscle tone, an enlarged liver, and heart defects. Affected infants may also fail to gain weight and grow at the expected rate and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life.

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Non-classic form, infantile-onset

The non-classic form of Pompe disease usually appears by age 1 and is characterized by delayed motor skills and progressive muscle weakness. The heart may be abnormally large, but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood.

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Late-onset

The late-onset form of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood and is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with this type experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.

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