Excellence in Pediatrics is a non-profit
global network dedicated to advancing
pediatric healthcare.
Rue des Vignerons 18, 1110 Morges 1 (VD), Switzerland
A webinar series dedicated to shining a light on alpha-mannosidosis, an ultra-rare genetic disorder caused by a deficiency of the lysosomal enzyme alpha-mannosidase. The symptoms, severity, and progression of alpha-mannosidosis vary widely between individuals, making diagnosis challenging and often delayed. Minimizing the time to diagnosis is important in ensuring that individuals with alpha-mannosidosis and their families receive timely access to support and specialist MDT care. Join our expert panel as they explore the diverse symptoms of alpha-mannosidosis, challenges, solutions for timely diagnosis, and best practices for long-term management and multidisciplinary care. The webinars will feature case study examples, panel discussions, and audience Q&A.
To identify the symptoms associated with alpha-mannosidosis and understand how to differentiate this condition from other lysosomal storage disorders To explore the patient journey through the lens of a real-life case study example and consider how the path to diagnosis could be improved for individuals and their familiesTo understand the importance of an early diagnosis, the barriers to diagnosis, and how they can be overcome