Leukodystrophy
On this page:
Leukodystrophy refers to progressive
degeneration of the white matter of the brain due to imperfect
growth or development of the myelin sheath, the fatty covering that
acts as an insulator around nerve fiber. Myelin, which lends its
color to the white matter of the brain, is a complex substance made
up of at least ten different chemicals. The leukodystrophies are
a
group of disorders that are caused by genetic defects in how myelin
produces or metabolizes these chemicals. Each of the
leukodystrophies is the result of a defect in the gene that controls
one (and only one) of the chemicals. Specific leukodystrophies
include metachromatic leukodystrophy, Krabbé disease,
adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease,
Childhood Ataxia with Central Hypomyelination or CACH (also known
as
Vanishing White Matter Disease), Alexander disease, Refsum disease,
and cerebrotendinous xanthomatosis. The most common symptom of a
leukodystrophy disease is a gradual decline in an infant or child
who previously appeared well. Progressive loss may appear in body
tone, movements, gait, speech, ability to eat, vision, hearing, and
behavior. There is often a slowdown in mental and physical
development. Symptoms vary according to the specific type of
leukodystrophy, and may be difficult to recognize in the early
stages of the disease.
Return to top 
Treatment for most of the leukodystrophies is
symptomatic and supportive, and may include medications, physical,
occupational, and speech therapies; and nutritional, educational,
and recreational programs. Bone marrow transplantation is showing
promise for a few of the leukodystrophies.
Return to top
The prognosis for the leukodystrophies varies
according to the specific type of leukodystrophy.
Return to top
National Organization for Rare Disorders
National Tay-Sachs and Allied Diseases Association
United Leukodystrophy Foundation
Return to top
