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Genetic test flags LOPD in expectant father who had no symptoms

A man was diagnosed with late-onset Pompe disease (LOPD) after prenatal genetic counseling, even though he exhibited no symptoms. “This example stresses the importance of pretest consultation and the relevance of clinical and ethical implications during prenatal genetic testing for the whole family group,” scientists wrote. His condition was described in “Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and in…
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Pompe Disease News broke the news in on Thursday, July 24, 2025.
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