Hagberg described 4 clinical stages in the course of the infantile form of metachromatic leukodystrophy (MLD).
Onset: between 6 months and 4 years of age
Survival after onset: about 5 years
Clinical Findings
Stage
hypotonia of the limbs; unsteady gait; requires support when walking; progressive polyneuropathy with loss of deep tendon reflexes
I
unable to stand unaided; early mental deterioration; dysarthria and aphasia; nystagmus; optic atrophy; grayish discoloration of the macula; further progression of neuropathy; ataxia with a staggering or stumbling gait (titubation)
II
flaccid paresis followed by spastic tetraplegia and pathologic reflexes; bedridden; bulbar and pseudobulbar palsies; difficulty with feeding; airway obstruction; variable seizure activity; able to interact with others but this declines as mental status and speech deteriorates
III
blind; decerebrate with no purposeful movement; requires nutritional support for survival
IV
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