Leukodystrophy
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What is Leukodystrophy?Is there any treatment?What is the prognosis?What research is being done?OrganizationsWhat 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.
Is there any treatment?
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.
What is the prognosis?
The prognosis for the leukodystrophies varies according to the specific type of leukodystrophy.
What research is being done?
The NINDS supports research on genetic disorders, including the leukodystrophies. The goals of this research are to increase
scientific understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them.
Select this link
to view a list of studies currently seeking patients.
Organizations
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined
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Last updated June 18, 2007
