Metachromatic Leukodystrophy Clinical Presentation

Updated: Jan 22, 2021
  • Author: Anna V Blenda, PhD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Presentation

History

Features of symptoms found in patients with each of the 4 forms of metachromatic leukodystrophy (MLD) are provided in the following lists. 

1. The infantile form includes the following:

  • Gait disturbances
  • Memory deficits
  • Seizures (may be present)
  • Loss of motor developmental milestones
  • Decreased attention span
  • Speech disturbances
  • Decline in school performance

2. The early juvenile form includes the following:

  • Gait disturbances
  • Tremors
  • Clumsiness
  • Loss of previously achieved skills
  • Intellectual decline
  • Behavioral changes
  • Seizures (possible)

3. The late juvenile and adult forms include the following:

  • Decreased work or school performance
  • Behavioral changes
  • Memory loss
  • Seizures (may be present)
  • Psychoses
  • Gradual loss of motor skills

A study by Harrington and colleagues [25]  confirmed clear overall differences in symptom profiles and overall disease progression related to late infantile and juvenile MLD; however, each subtype was characterized by some variability among individuals.

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Physical

Neurodevelopmental tests demonstrate the following findings in patients with infantile or early juvenile metachromatic leukodystrophy (MLD):

  • Loss of previously achieved developmental milestones
  • Tremors
  • Truncal ataxia
  • Hyperreflexia progressing to hyporeflexia
  • Hypotonia
  • Gait abnormalities
  • Optic atrophy

Neurocognitive tests demonstrate the following abnormalities in patients with late juvenile or adult MLD:

  • Dementia
  • Memory loss
  • Disinhibition
  • Impulsiveness
  • Decreased motor function
  • Optic atrophy
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