EIP is delighted to announce a NEW free-to-access webinar on Spotting the Signs of Metachromatic Leukodystrophy (MLD) | ||||
MLD-S2-M2: Identification of Pre-Symptomatic Patients - The Importance of Family Screening |
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4 May 2022 |
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The webinar is now organised. Register to access the video. |
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COURSE DESCRIPTION |
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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 | ||||
TARGET AUDIENCE |
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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. | ||||
LEARNING OBJECTIVES |
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✓ 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 | ||||
Click below to start your free registration |
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