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 Florian Lagler, Head of the Institute for Hereditary Metabolic Diseases at Paracelsus Medical University in Salzburg, Austria

SESSION STRUCTURE

LEARNING OBJECTIVES

1. Exploring the patient management of alpha-mannosidosis and the latest therapeutic options available
2. Multi-systemic Symptoms and treatment of Older Children and the Transition to Adult Therapies
3. Exploring the need to start treatment as soon as possible - Optimising therapeutic outcomes for the paediatric patient
4. Treatment case study timelines - from diagnosis to treatment

Watch the video!