Pompe disease is a rare, genetic lysosomal storage disorder with variable clinical presentation and disease progression. It can be relentlessly progressive, so early diagnosis and management are critical for optimal patient outcomes.
Pompe disease is typically described based on the classification of either infantile-onset Pompe disease (IOPD) or late-onset Pompe disease (LOPD).
Infantile-onset Pompe disease (IOPD) is the most severe form of the disease with rapid onset of signs and symptoms within the first few weeks to months of life. The cardiorespiratory and neuromuscular systems are most affected. Without intervention, symptoms are rapidly progressive and can lead to cardiorespiratory failure.
Late-onset Pompe disease (LOPD) can present with symptoms from as early as childhood up to the 6th decade of life and beyond. Signs and symptoms of LOPD vary from person to person but generally involve proximal limb and respiratory muscle weakness. Although the progression of symptoms varies, LOPD is a relentlessly progressive chronic disease.
The diagnosis of Pompe disease is confirmed by the lack/deficiency of GAA enzyme in tissues and genetic mutational analysis of the GAA gene. Find U.S. testing laboratories here.
Pompe disease is an autosomal recessive disorder that is genetically heterogeneous with several types of mutations accounting for GAA gene instability.
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