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


hypotonia of the limbs; unsteady gait; requires support when walking; progressive polyneuropathy with loss of deep tendon reflexes


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)


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


blind; decerebrate with no purposeful movement; requires nutritional support for survival




To read more or access our algorithms and calculators, please log in or register.