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Version actuelle datée du 5 octobre 2025 à 12:25
Pompe illness is an inherited disorder attributable to the buildup of a complex sugar called glycogen within the physique's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their means to operate normally. Researchers have described three forms of Pompe illness, which differ in severity and the age at which they seem. These sorts are often known as basic infantile-onset, non-traditional infantile-onset, and late-onset. The traditional form of infantile-onset Pompe illness begins within a couple of months of delivery. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and coronary heart defects. Affected infants may fail to gain weight and develop at the expected price (failure to thrive) and have respiratory problems. If untreated, this form of Pompe disease leads to demise from heart failure in the first year of life. The non-basic type of infantile-onset Pompe illness normally appears by age 1. It's characterized by delayed motor skills (akin to rolling over and sitting) and progressive muscle weakness.
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