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Diseases & Conditions

Leukodystrophy

(Also Called 'Central Hypomyelination')

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.

Organizations

National Organization for Rare Disorders (NORD)

55 Kenosia Avenue
Danbury, CT 06810
Phone: 203.744.0100
Voice Mail: 800.999.NORD (6673)
Fax: 203.798.2291
Email: orphan@rarediseases.org
Website: www.rarediseases.org

National Tay-Sachs and Allied Diseases Association

2001 Beacon Street, Suite 204
Boston, MA 0213
Toll-free: 800.90.NTSAD (906.8723)
Fax: 617.277.0134
Email: info@ntsad.org
Website: www.ntsad.org

United Leukodystrophy Foundation

2304 Highland Drive
Sycamore, IL 60178
Phone: 815.895.3211
Toll-free: 800.728.5483
Fax: 815.895.2432
Email: office@ulf.org
Website: www.ulf.org

Hunter's Hope Foundation (A Leukodystrophy Resource)

P.O. Box 643
Orchard Park, NY 14127
Phone: 716.667.1200
Toll-free: 877.984.HOPE (4673)
Fax: 716.667.1212
Email: info@huntershope.org
Website: www.huntershope.org

Myelin Project

P.O. Box 39
Pacific Palisades, CA 90272
Phone: 310.459.1071
Toll-free: 800.869.3546
Fax: 310.230.4298
Email: candace.root@myelin.org
Website: www.myelin.org

MLD Foundation

21345 Miles Drive
West Linn, OR 97068
Phone: 503.656.4808
Toll-free: 800.617.8387
Email: info@MLDFoundation.org
Website: www.mldfoundation.org

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

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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 5/6/2010...#6034

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