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



Presenter: Dr Lucia Laugwitz, Department of Neuropediatrics, University of Tuebingen, University of Tuebingen, Germany - Institute for Medical Genetics and Applied Genomics, University of Tuebingen, Germany


  1. Natural history of MLD: disease onset, clinical course and treatment options
  2. Early diagnosis: first symptoms and MRI signs
  3. The latest on newborn screening for MLD, sibling screening and family screening
  4. The identification of pre-symptomatic patients - Chances and challenges for disease prediction and clinical management



Metachromatic Leukodystrophy (MLD) is a rare hereditary disease characterized by the accumulation of fats called sulfatides. 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 significantly affect the conditions’ development and the patient’s health and quality of life.


This educational activity is designed for an international audience of General Pediatricians, General Practitioners, Pediatric Neurologists, and other physicians and healthcare professionals interested in Metabolic Diseases.


Watch the video!