Synonyms|Editors|Languages|Comments|Home|Sponsors|Health Information
 
  Krabbe Disease 
Synonym(s):  Globoid Cell Leukodystrophy
Reviewed  11-01-2001  

Get Web page suited for printing
Email this to a friend or colleague
Studies with patients

Table of Contents (click to jump to sections)

What is Krabbé Disease?
Is there any treatment?
What is the prognosis?
What research is being done?

Organizations

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.

Select this link to view a list of studies currently seeking patients.

 Organizations

National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, 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
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 (-4673)
Fax: 716-667-1212

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


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.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.


Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892




Return to top


Home | About NINDS | Disorders | Funding | News & Events | Find People | Jobs & Training | Accessibility

H H S Logo - link to U. S. Department of Health and Human Services     N I H logo - link to U. S. National Institutes of Health    N I N D S logo - link to National Institute of Neurological Disorders and Stroke    FirstGov Logo - link To FirstGov