6/13/2023 0 Comments Children of blood and bone epubSome articles describe ‘classic infantile’, ‘childhood’ and ‘adult’ Pompe disease while others discuss ‘infantile-onset’ (IOPD) and ‘late-onset’ (LOPD) disease. The scientific literature has different ways of subdividing the clinical spectrum of Pompe disease. Less severe forms of Pompe disease with onset during childhood, adolescence, or adulthood, rarely manifest cardiac problems, but gradually lead to walking disability and reduced respiratory function. ![]() They have characteristic heart (cardiac) problems (dysfunction due to heart enlargement) in addition to generalized skeletal muscle weakness and a life expectancy of less than 2 years, if untreated (classic infantile Pompe disease). ![]() The most severely affected infants usually present within the first 3 months after birth. ![]() At all ages, skeletal muscle weakness characterizes the disease, causing mobility problems and affecting the respiratory system. Earlier onset compared to later onset is usually associated with faster progression and greater disease severity. First symptoms can occur at any age from birth to late adulthood. ![]() Pompe disease is a rare disease continuum with variable rates of disease progression and different ages of onset.
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