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Dyck, adult patient, retired Professor in Political Science, Canada, for assistance in the preparation of this report. Pompe disease is a rare disease continuum with variable rates of disease progression and different ages of onset. First symptoms can occur at any age from birth to late adulthood. Earlier onset compared to later onset is usually associated with faster progression and greater disease severity.
At all ages, skeletal muscle weakness characterizes the disease, causing mobility problems and affecting the respiratory system. The most severely affected infants usually present within the first 3 months after birth.
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. 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. The scientific literature has different ways of subdividing the clinical spectrum of Pompe disease.
Therefore, glycogen starts to accumulate in all kinds of tissues, but primarily in skeletal muscle, smooth muscle and cardiac muscle, where it causes damage to tissue structure and function. Pompe disease is inherited in an autosomal recessive genetic pattern, which implies that healthy parents can have affected children. The human body can be seen as an assembly of interconnecting organs.
