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.
Language: English ● Duration: 30 minutes followed by questions from the audience
Presenter: Federica Deodato, Bambino Gesù Hospital, Rome, Italy
This educational activity is designed for an international audience of General Pediatricians, General Practitioners, Pediatric Neurologists and other physicians and healthcare professionals with an interest in Metabolic Diseases and Genetics.
Providing an overview of MLD in children
Exploring the onset of symptoms and diagnostic delays - looking for the clues for early diagnosis
Reviewing new therapies that may change the natural history
Examining a Case Study example on MLD
Understanding the importance of early detection, the early start of treatment and sibling screening for MLD