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NINDS Leukodystrophy Information Page


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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.

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.

NIH Patient Recruitment for Leukodystrophy Clinical Trials

Organizations

Column1 Column2
National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT   06810
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA   02135
info@ntsad.org
http://www.ntsad.org
Tel: 800-90-NTSAD (906-8723)
Fax: 617-277-0134

United Leukodystrophy Foundation
224 North 2nd Street, Suite 2
DeKalb, IL   60115
office@ulf.org
http://www.ulf.org
Tel: 815-748-3211 800-728-5483
Fax: 815-748-0844

Hunter's Hope Foundation [A Leukodystrophy Resource]
P.O. Box 643
Orchard Park, NY   14127
info@huntershope.org
http://www.huntershope.org
Tel: 716-667-1200 877-984-HOPE (-4673)
Fax: 716-667-1212

Myelin Project
P.O. Box 39
Pacific Palisades, CA   90272
info@myelin.org
http://www.myelin.org
Tel: 800-869-3546 310-459-1071
Fax: 310-230-4298

MLD Foundation
21345 Miles Drive
West Linn, OR   97068
info@MLDFoundation.org
http://www.mldfoundation.org
Tel: 800-617-8387 503-656-4808

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Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

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Last updated February 14, 2014