Leukodystrophy
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What is Leukodystrophy?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
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?
What is the prognosis?
What research is being done?
Select this link to view a list of studies currently seeking patients.
National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 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 Brighton, MA 02135 info@ntsad.org http://www.ntsad.org Tel: 617-277-4463 800-90-NTSAD (906-8723) Fax: 617-277-0134 |
United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 office@ulf.org http://www.ulf.org Tel: 815-895-3211 800-728-5483 Fax: 815-895-2432 |
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 |
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National Institute of Neurological Disorders and Stroke
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Last updated July 18, 2008