In a study conducted by Haleem et al. (2025), the clinical and genetic profiles of 18 children with Pompe disease in Duhok city, Kurdistan, were examined. The researchers used tandem mass spectrometry and genetic studies for diagnosis, and assessed muscle strength with hand-held dynamometry. Cardiac function was evaluated using echocardiography and electrocardiography, and the team also looked into the patients' feeding and swallowing difficulties. The study found that 11.1% of the patients had Pompe disease-associated cardiomyopathy. The findings highlight the broad spectrum of disease severity in children with Pompe disease and underscore the importance of considering it in the differential diagnosis for unexplained fatigue, weakness, and cardiorespiratory issues.
The research emphasizes the variability in the progression of childhood Pompe disease and the necessity for healthcare professionals to be vigilant for its signs and symptoms. This is crucial for early diagnosis and management, which can significantly affect the quality of life for affected individuals.
