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Pompe disease - Symptoms, Causes, Treatment Prognosis

What causes Pompe disease and how does it affect the body? How common is Pompe disease and who does it affect? What are the symptoms of infantile-onset and late-onset Pompe disease? How does Pompe disease affect the muscles, heart, and respiratory system? How is Pompe disease diagnosed and what is the gold standard for diagnosis? What is the first-line treatment for Pompe disease and what are its limitations? How does the prognosis of Pompe disease vary with the age of onset? What lifestyle or dietary changes might be recommended for someone with Pompe disease? How does enzyme replacement therapy affect the lifespan of individuals with infantile Pompe disease? Important Highlights: Pompe disease is a rare genetic disorder causing muscle weakness due to a deficiency in the enzyme alpha-glucosidase. The prevalence of Pompe disease is approximately 1 in 40,000, affecting both males and females. Glycogen accumulation in the lysosomes primarily affects muscle tissues, leading to cell damage and loss of muscle strength. Infantile-onset Pompe disease presents within the first few months of life, with severe symptoms including an enlarged heart and muscle weakness. Late-onset Pompe disease can manifest anytime from childhood to adulthood, with symptoms including muscle weakness and respiratory difficulties. In Pompe disease, the accumulation of glycogen can cause the heart to enlarge and weaken, leading to heart failure. Diagnosis of Pompe disease typically involves a blood test to assess alpha-glucosidase enzyme activity, confirmed by a genetic test identifying mutations in the GAA gene. Enzyme Replacement Therapy (ERT) is the primary treatment for Pompe disease, though it can't reverse pre-existing damage or entirely halt disease progression. Prognosis of Pompe disease is heavily dependent on when symptoms start; untreated infantile-onset often leads to death within the first year, while late-onset has a more variable course. A high-protein, low-sugar diet is often recommended for the management of Pompe disease