On April 3, 2026, in Shymkent, a master class titled “Orphan Diseases: From Awareness to Action” was held at the city children’s hospital, bringing together specialists in pediatric neurology and pediatrics. The program covered key aspects of diagnosing and managing rare diseases, including AADC deficiency and Duchenne muscular dystrophy. Participants discussed clinical cases, diagnostic challenges, and modern treatment approaches based on evidence-based medicine.

The program also included a session on Alpha-mannosidosis, focusing on its clinical presentation, differential diagnosis, and the importance of increasing physician awareness. Experts emphasized the need for early detection, a multidisciplinary approach, and the implementation of advanced therapeutic strategies. Such educational initiatives contribute to improving the quality of care for children with rare diseases and support the development of orphan disease management in Kazakhstan.