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.
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.
The prognosis for the leukodystrophies varies according to the specific type of leukodystrophy.
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.
National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT 06810
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Boston, MA 02135
Tel: 800-90-NTSAD (906-8723)
United Leukodystrophy Foundation
224 North 2nd Street, Suite 2
DeKalb, IL 60115
Tel: 815-748-3211 800-728-5483
Hunter's Hope Foundation
[A Leukodystrophy Resource]
P.O. Box 643
Orchard Park, NY 14127
Tel: 716-667-1200 877-984-HOPE (-4673)
P.O. Box 39
Pacific Palisades, CA 90272
Tel: 800-869-3546 310-459-1071
21345 Miles Drive
West Linn, OR 97068
Tel: 800-617-8387 503-656-4808
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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Last Modified September 11, 2015