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, confusing 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. 

Language: English ● Duration: 30 minutes, followed by questions from the audience 

Presenter: Dr Francesca Fumagalli, Neurologist, Pediatric Immunohematology Unit and Department of Neurology San Raffaele Hospital, Milan (Italy) 


This educational activity is designed for an international audience of general pediatricians, general practitioners, pediatric neurologists, physicians, and healthcare professionals interested in metabolic diseases and genetics. 


  1. An overview of current treatment options available for patients with MLD
  2. Exploring the development of emerging therapies and treatment options
  3. The importance of early diagnosis and the early start of treatments for both established and emerging therapies


Watch the video!