Nathalie Guffon (Femme Mère Enfant Hospital, Lyon)
COURSE DATE AND TIME
The session is now organised. Please register to access the recorded video.
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:
| 13:00 | Introduction |
| 13:05 | Evaluating how to diagnose MPS and alpha-mannosidosis early - the early signs and symptoms - Reviewing pathophysiology of MPS and the alpha-mannosidosis |
| 13:15 | From disease manifestation to diagnosis: diagnostic tools and screening - exploring the latest diagnostic options available to you as a paediatric HCP |
| 13:20 | Reviewing the differential diagnosis between MPS and MA |
| 13:25 | Exploring a case study of typical diagnostic pathways |
| 13:35 | Q&A (via the Text on the EIP Webinar Hub) |
| 13:45 | End of Webinar |
Learning objectives
- Evaluating how to diagnose MPS and alpha-mannosidosis early - the early signs and symptoms - Reviewing the pathophysiology of MPS and alpha-mannosidosis
- From disease manifestation to diagnosis: diagnostic tools and screening - exploring the latest diagnostic options available to you as a paediatric HCP
- Reviewing the differential diagnosis between MPS and MA - Exploring a case study of typical diagnostic pathways
The session is now organised. Please register to access the recorded video.
It's free. . It's free.
This information is intended for healthcare professionals only.
An attendance certificate is provided by EIP to all those attending a live webinar or watching a recorded webinar. Once all 4 webinars have taken place EIP will apply for CME credit/s connected to a combined Spot the Early Signs of AM Course - Further details will be available on the AM Resource Centre at: https://amd.spot-early-signs.org/