Children with MLD
appear normal at birth. During the first months, or even years, of the child's life,
growth and development take place as though the he/she were an average infant. Functional
motor skills such as walking then begin to deteriorate as the disease takes hold. These
children seem to progress rapidly over a period of several months -- alternating between
stabilization and rapid decline. Independence is quickly lost, and the child becomes
bedridden. Seizures are often seen, but they soon disappear. Full body contractions are
very common, and appear quite painful to the child. Probably the most painful realization
is that the child may still express emotion at this stage. S/he is still able to smile,
cry, and respond to the devastated on-looking parents. Soon after this stage the infant
loses its sight. A state of general unresponsiveness sets in as more and more
body-functions are lost. A feeding tube is often used to maintain nutrition now that
swallowing has grown impossible. Months, or perhaps days later infections such as
pneumonia begin to run rampant through the victim's body. Death often follows an infection
such as this. As more and more modern treatments become available, a child suffering from
late infantile Metachromatic Leukodystrophy may survive for many years, but in general the
prognosis is not a good one.
Juvenile onset MLD is
characterized by the appearance of symptoms between the ages of 4 and 12. Diagnosis occurs
most often during the early years of schooling when there is a noticeable decline in
intellectual performance. Juvenile patients have difficulty following directions, show
behavioral abnormalities, have periods of incontinence, slur their words, and show
difficulty controlling and coordinating their gate. As the disease progresses, as
seen in infantile MLD, seizures begin to occur and full body contractions cause
significant pain to the child. The ability to walk is eventually lost, causing patients to
become bedridden. The final stages of juvenile onset MLD are similar to those observed in
late infantile form.