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: Dr. Monica Lopez Rodriguez (Ramón y Cajal University Hospital, Madrid, Spain) & Ms. Sophie Thomas (The Society for Mucopolysaccharide and Related Diseases, UK)
LEARNING OBJECTIVES
- Analysing changes in mobility, pain or discomfort, and patients’ self-care over time (MLR)
- Practical insights from the survey on listening to patient voices and needs (MLR)
- Exploring the ways to support MA Patients and families (ST)
- Improving the support offered by HCPs - understanding what questions patients/families would like answered and what HCPs should ask (MLR & ST)