Speaker: Simon Jones, Consultant in Paediatric Inherited Metabolic Disease, Senior Lecturer, The University of Manchester (UK)

Learning Objectives: (1) Understanding the main neurological presenting signs of Metachromatic Leukodystrophy in children through real-world case studies (2) Reviewing the early-onset clinical manifestations and presenting symptoms that should trigger an immediate referral to a specialist (3) Understanding that delays in the start of treatment have significant consequences on the conditions’ development and quality of life

Metachromatic Leukodystrophy (MLD) is a rare hereditary disease characterized by the accumulation of fats called sulfatides. This causes the destruction of the protective fatty layer (myelin sheath) surrounding the nerves in both the central nervous system and the peripheral nervous system, ultimately affecting intellectual and motor function. Early-onset clinical manifestations are often overlooked or confused with other conditions causing confusion among non-trained HCPs at first contact, resulting in misdiagnosis, wrong referral routes and delays in the early start of treatment. Delays in starting treatment have significant consequences on the conditions’ development, and the patient’s health and quality of life. This delay in referral and treatment must be overcome.

The webinar is free-to-view and a certificate of attendance will be provided by the EIP Institute for those who attend online or watch the video after the webinar is organised.