Leukodystrophy

Overview

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 10 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.

Resources

Organizations

National Organization for Rare Disorders (NORD)

55 Kenosia Avenue

Danbury, CT 06810

orphan@rarediseases.org

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

www.ntsad.org

Tell: 800-90-NTSAD (906-8723)

Fax: 617-277-0134

United Leukodystrophy Foundation

224 North 2nd Street, Suite 2

DeKalb, IL 60115

office@ulf.org

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

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

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

www.mldfoundation.org

Tel: 800-617-8387; 503-656-4808

Source: __National Institutes of Health; National Institute of Neurological Disorders and Stroke

Last reviewed by a Cleveland Clinic medical professional on 09/11/2015.

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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy

Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy