Differential Diagnosis Of Alpha-mannosidosis (AM) – Cognitive Development As An Early Sign In Children

30 minutes
English
Rare Diseases
Alpha-Mannosidosis
AM

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.

Learning Objectives

Reviewing the clinical case symptoms and differential diagnosis of the neuro-cognitive signs of AMExamining the differential diagnosis with other LSDs as well as non-LSD Rare Diseases and ConditionsReviewing the latest clinical studies and genetic diagnoses connected to cognitive impairmentExploring the characterization of CNS pathology and correlation between CNS pathology and cognitive function in Alpha-mannosidosis