April 15th is Pompe Disease
April 15th is Pompe Disease Day, with the aim of raising awareness about this rare and serious genetic disease, which affects the muscular and cardiac systems. The date aims to inform the population and health professionals about Pompe Disease, caused by the deficiency of an enzyme called acid alpha-glucosidase, leading to the accumulation of glycogen in cells and resulting in damage to muscles and vital organs.
The disease can manifest in several forms, with the most severe childhood form, affecting the heart and respiratory muscles, and the adult form, which is usually characterized by progressive muscle weakness. Early diagnosis is essential for treatment, which may include therapies such as enzyme replacement therapy.
International Pompe Disease Day is an opportunity to highlight the importance of research, early diagnosis and support for those affected. In various parts of the world, the day is marked by awareness events, educational campaigns and initiatives to increase visibility of the disease and support families and professionals involved in the care of patients.
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