Metachromatic Leukodystrophy Clinical Presentation

Updated: Dec 10, 2019
  • Author: Theodore Moore, MD, MS; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Features of symptoms found in patients with each of the 4 forms of metachromatic leukodystrophy (MLD) are shown below.

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

The early juvenile form includes the following:

  • Gait disturbances

  • Tremors

  • Clumsiness

  • Loss of previously achieved skills

  • Intellectual decline

  • Behavioral changes

  • Seizures (possible)

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



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

  • 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 metachromatic leukodystrophy:

  • Dementia

  • Memory loss

  • Disinhibition

  • Impulsiveness

  • Decreased motor function

  • Optic atrophy