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Breathing problems, muscle weakness lead to LOPD diagnosis

A 43-year-old woman who was experiencing breathing problems and muscle weakness was eventually diagnosed with late-onset Pompe disease (LOPD) through genetic testing, highlighting the challenges of diagnosing the condition due to its rarity and nonspecific symptoms, according to a study. “It is important to consider late-onset Pompe disease in adults presenting with unexplained respiratory insufficiency and progressive muscle weakness,” clinicia…
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Pompe Disease News broke the news in on Thursday, July 3, 2025.
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