Developmental trajectory of MLD (metachromatic leukodystrophy).

Metachromatic Leukodystrophy (MLD): Developmental Trajectories

Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disease characterized by deficiency of the enzyme arylsulfatase A (ARSA), causing the accumulation of sulfatides and progressive demyelination of the central and peripheral nervous system.

Clinical Forms and Trajectory

• Late Infant (typical): It appears between the first and second year of life. Infants lose acquired walking ability, present severe motor regression, progressive spastic quadriparesis, and blindness.
• Youth and Adult: Slower progression, initially characterized by learning difficulties, behavioral disorders, ataxia and subsequent global motor impairment.