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Articles » NINDS Krabbe Disease Information Page: NINDS
 

NINDS Krabbe Disease Information Page: NINDS

Article title: NINDS Krabbe Disease Information Page: NINDS

Main condition: Krabbe Disease

Conditions: Krabbe Disease


What is Krabbé Disease?
Krabbé disease is a rare, degenerative disorder of the central and peripheral nervous systems. It is one of a group of genetic disorders called the leukodystrophies that affect the growth of the myelin sheath, the fatty covering-which acts as an insulator-on nerve fibers in the brain. Symptoms vary in prevalence and severity among patients and may include loss of previously attained developmental skills, unexplained fevers, irritability, myoclonic seizures (sudden, shock-like contractions of the limbs), blindness, spasticity (stiffness of the limbs), and paralysis. Prolonged weight loss may occur also. Onset of the disorder generally occurs at 3 to 6 months of age, but juvenile and even adult-onset patients are known.

Is there any treatment?
Although there is no cure for Krabbé disease, bone marrow transplantation has been shown to have benefit for mild cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation.

What is the prognosis?
The prognosis for individuals with Krabbé disease is poor. The disorder is generally fatal before age 2. Prognosis may be significantly better with early bone marrow transplantation in some patients.

What research is being done?
The NINDS supports research on genetic disorders including leukodystrophies such as Krabbé disease. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and cure them.

 Organizations

National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA 02135
NTSAD-boston@worldnet.att.net
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
ulf@tbcnet.com
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
hunters@huntershope.org
http://www.huntershope.org/
Tel: 716-667-1200 877-984-HOPE
Fax: 716-667-1212

National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
orphan@rarediseases.org
http://www.rarediseases.org/
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892


 

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