Butterfly Network, Clinton Health Access Initiative, and Global Ultrasound Institute Partner…New Web Hosting Pioneer Emerges, Offering Affordable Hosting Solutions Coupled with…: 15 April is recognised as International Pompe Day, a time dedicated to increasing awareness about Pompe Disease – a rare, inherited disorder that leads to progressive muscle and heart weakness. The day emphasises global awareness with the message: “Together We Are Strong.
Pompe Disease is a condition resulting from mutations in a gene responsible for producing acid alpha-glucosidase , the enzyme necessary for breaking down glycogen, a sugar the body uses for energy.These mutations lead to a reduced or absent production of this enzyme, causing an accumulation of glycogen that damages muscles and the heart. The impact of the disease, including its severity and the age when symptoms appear, depends on how much the enzyme’s activity is reduced.
Although there is no cure for the disease, Enzyme Replacement Therapy , available since 2006, supplies the body with a version of the GAA enzyme that people with Pompe Disease lack, and has significantly improved outcomes for patients.Monique Nel, Medical Advisor for Rare Diseases at Sanofi South Africa, emphasises the importance of early screening and treatment to prevent or minimise complications.
“We also encourage healthcare professionals to consider Pompe Disease when evaluating patients with muscle weakness, respiratory issues, or unexplained cardiac symptoms, to ensure early diagnosis. Early diagnosis facilitates timely intervention and treatment, optimising patient outcomes and quality of life.”The views of authors published on South Africa Today are their own and do not necessarily represent the views of South Africa Today.