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)

LEARNING OBJECTIVES

  • Reviewing the clinical case symptoms and differential diagnosis of the neuro-cognitive signs of AM
  • Examining the differential diagnosis with other LSDs as well as non-LSD Rare Diseases and Conditions
  • Reviewing the latest clinical studies and genetic diagnoses connected to cognitive impairment
  • Exploring the characterisation of CNS pathology and correlation between CNS pathology and cognitive function in Alpha-mannosidosis

 

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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.