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LaurelLuxt

Pompe disease is an inherited disorder attributable to the buildup of a fancy sugar called glycogen in the physique's cells. The accumulation of glycogen in certain organs and tissues, particularly muscles, impairs their potential to function usually. Researchers have described three types of Pompe illness, which differ in severity and the age at which they seem. These sorts are generally known as basic infantile-onset, non-basic infantile-onset, and late-onset. The classic type of infantile-onset Pompe disease begins within a few months of start. Infants with this disorder typically expertise muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and coronary heart defects. Affected infants may also fail to gain weight and develop at the expected charge (failure to thrive) and have breathing issues. If untreated, this type of Pompe illness results in death from coronary heart failure in the primary yr of life. The non-basic form of infantile-onset Pompe disease normally appears by age 1. It's characterized by delayed motor skills (resembling rolling over and sitting) and progressive muscle weakness.

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