What is Leukodystrophy?
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 Nervous System 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. Diabetes