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 amongst HCPs at the first initial contact, resulting in misdiagnosis, wrong referral routes and delays in the early start of treatment.
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