COURSE DESCRIPTION

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. Minimising 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 the diverse symptoms of alpha-mannosidosis, challenges and 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.

Language: English 

Duration: 30 minutes, followed by 15 minutes of questions from the audience and discussion

Presenter: Dr Nathalie Guffon,  Head of the Department, Metabolic Diseases, Femme Mère Enfant Hospital, Lyon, France,

SESSION STRUCTURE

LEARNING OBJECTIVES

1. Evaluating how to diagnose MPS and alpha-mannosidosis early - the early signs and symptoms - Reviewing the pathophysiology of MPS and alpha-mannosidosis
2. From disease manifestation to diagnosis: diagnostic tools and screening - exploring the latest diagnostic options available to you as a paediatric HCP
3. Reviewing the differential diagnosis between MPS and MA - Exploring a case study of typical diagnostic pathways

Watch the video!