Diagnosing Alpha-mannosidosis (AM) In Practice

30 minutes
English
Rare Diseases
Alpha-Mannosidosis
AM

A webinar series dedicated to spotting the early signs of alpha-mannosidosis (AM), 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 experts as they explore alpha-mannosidosis's diverse symptoms, challenges, solutions for timely diagnosis, and best practices for long-term management and multidisciplinary care. The webinars will feature case study examples, practical advice, and audience Q&A.

Learning Objectives

Evaluating how to diagnose MPS and alpha-mannosidosis early - the early signs and symptoms - Reviewing the pathophysiology of MPS and alpha-mannosidosisFrom disease manifestation to diagnosis: diagnostic tools and screening - exploring the latest diagnostic options available to you as a pediatric HCPReviewing the differential diagnosis between MPS and MA - Exploring a case study of typical diagnostic pathways