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 Martin Magner, Assoc. Professor, Department of Paediatrics, First Faculty of Medicine, Charles University, General University Hospital, Czech Republic

SESSION STRUCTURE

LEARNING OBJECTIVES

1. Exploring the early clinical manifestations of MPS and alpha-mannosidosis – What evert HCP should look for
2. Examining the multi-systemic features of the diseases - red flags, signs, symptoms and when to refer
3. Reviewing the diagnostic approaches to MPS and AM. From suspicion to diagnosis confirmation

Watch the video!