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: Presenters: Prof. Nathalie Guffon (Head of the Department, Metabolic Diseases, Femme Mère Enfant Hospital, Lyon, France) and Prof. Sonia Ayari (Hospitalier Hospices Civils de Lyon, France)

LEARNING OBJECTIVES

  • Recapping the main signs of AM and exploring the key symptoms to look for
  • Exploring how hearing impairment is present in 95% of AM cases
  • Examining the latest data on hearing loss and AM 
  • Reviewing the diagnostic process and the differential diagnosis with other conditions
  • Viewing hearing impairment as a key red flag for lysosomal storage disorders

Watch the video!



The Alpha-mannosidosis Spot the Early Signs Educational Program is independently developed by the Excellence in Pediatrics Institute, which manages the content, topics, and speaker selection. To support its activities, EIP seeks unrestricted grants and sponsorships. Chiesi Farmaceutici SpA has sponsored these educational webinars.