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Metachromatic leukodystrophy, late infantile form

Disease definition

A subtype of Metachromatic leukodystrophy characterized by rapidly progressive psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, seizures, painful spasms, muscle weakness, ataxia, paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life.


Classification level: Subtype of disorder
  • Synonym(s):
    • Arylsulfatase A deficiency, late infantile form
    • MLD, late infantile form
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: E75.2
  • ICD-11: 5C56.02
  • OMIM: 250100
  • UMLS: C0751278
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

General public


Disease review articles

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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