Creutzfeldt Jakob Disease

content provided by National Organization for Rare Disorders

Important
It is possible that the main title of the report Creutzfeldt Jakob Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

• CJD
• Jakob-Creutzfeldt Disease
• Subacute Spongiform Encephalopathy
• Jakob's Disease

Disorder Subdivisions

• Variant Creutzfeldt-Jakob Disease (V-CJD)

General Discussion

Creutzfeldt-Jakob disease (CJD) is an extremely rare degenerative brain disorder (i.e., "spongiform" encephalopathy) characterized by sudden development of rapidly progressive neurological and neuromuscular symptoms. With symptom onset, affected individuals may develop confusion, depression, behavioral changes, impaired vision, and/or impaired coordination. As the disease progresses, there may be rapidly progressive deterioration of cognitive processes and memory (dementia), resulting in confusion and disorientation, impairment of memory control, personality disintegration, agitation, restlessness, and other symptoms and findings. Affected individuals also develop neuromuscular abnormalities such as muscle weakness and loss of muscle mass (wasting); irregular, rapid, shock-like muscle spasms (myoclonus); and/or relatively slow, involuntary, continual writhing movements (athetosis), particularly of the arms and legs. Later stages of the disease may include further loss of physical and intellectual functions, a state of unconsciousness (coma), and increased susceptibility to repeated infections of the respiratory tract (e.g., pneumonia). In many affected individuals, life-threatening complications may develop less than a year after the disorder becomes apparent.

In approximately 90 percent of cases, CJD appears to occur randomly for no apparent reason (sporadically). About 10 percent of affected individuals may have a hereditary predisposition for the disorder. Reports in the medical literature suggest that familial cases of CJD are consistent with an autosomal dominant mode of inheritance. In addition, in some extremely rare cases, CJD may take an infectious form. The disorder is thought to result from changes (mutations) in the gene that regulates the production of the human prion protein or direct contamination (transmission) with abnormal prion protein in infected brain tissue.

A variant form of CJD (V-CJD) has been reported in the United Kingdom that affects younger people (median age at onset: 28 years) than does classic CJD. In 1996, experts suggested the possibility that this variant might be associated with consumption of beef from cows with a related infectious brain disorder known as Bovine Spongiform Encephalopathy (BSE) or "Mad Cow Disease." BSE was first identified in the UK in 1986 and the number of reported cases grew rapidly, peaking in the winter of 1992-93 when almost 1,000 new cases were reported each week. Later, BSE also began to appear in some other European countries. Scientific research and debate continue concerning the potential link between BSE and V-CJD. In addition, coordinated national and international efforts are in place concerning the prevention, study, and surveillance of BSE and CJD. In early December 2000, European Union agriculture ministers agreed upon new measures to combat the spread of mad cow disease, including incinerating any cow over 30 months of age that had not tested negative for BSE. (BSE is thought to become detectable and infectious when cattle are approximately 30 months old.)
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Resources

Alzheimer's Association
225 North Michigan Avenue
Suite 1700
Chicago, IL 60601-7633
USA
Tel: 3123358700
Fax: 3123351110
Tel: 8002723900
Email: info@alz.org
Internet: http://www.alz.org

Alzheimer's Disease Education and Referral Center
P.O. Box 8250
Silver Spring, MD 20907-8250
Tel: (301)495-3311
Fax: (301)495-3334
Tel: (800)438-4380
Email: adear@alzheimers.org
Internet: http://www.alzheimers.org

Centers for Disease Control and Prevention
1600 Clifton Road NE
Atlanta, GA 30333
Tel: (404)639-3534
Tel: (800)311-3435
Email: http://www.cdc.gov/netinfo.htm
Internet: http://www.cdc.gov/

National Hospice and Palliative Care Organization
1700 Diagonal Rd
Suite 625
Alexandria, VA 22314
USA
Tel: 7038371500
Fax: 7038371233
Tel: 8006588898
Email: nhpco_info@nhpco.org
Internet: http://www.nhpco.org

NIH/National Institute of Allergy and Infectious Diseases
6610 Rockledge Drive
MSC 6612
Bethesda, MD 20892-6612
Tel: (301)496-5717
Fax: (301)402-3573
TDD: (800)877-8339
Internet: http://www.niaid.nih.gov/

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

World Health Organization (WHO) Regional Office for the Americas (AMRO)
Pan American Health Organization (PAHO)
525 23rd Street NW
Washington, DC 20037
Tel: (202)974-3000
Fax: (202)974-3663
Email: postmaster@paho.org
Internet: http://www.who.ch/

Creutzfeldt-Jakob Disease Foundation, Inc.
843 N. Cleveland-Massillon Road
Suite 7A
Akron, OH 44333
USA
Tel: 3306655590
Fax: 3306682474
Tel: 8006591991
Email: crjakob@aol.com
Internet: http://www.cjdfoundation.org

CJD Voice

Email: tunket60@sbcglobal.com
Internet: http://www.cjdvoice.org

CJD Aware!
2527 South Carrollton Avenue
New Orleans, LA 70118-3013
USA
Tel: 5048614627
Email: info@cjdaware.com; cjdaware@iwon.com
Internet: www.cjdaware.com

National Prion Disease Pathology Surveillance Center
Case Western Reserve University
Division of Neuropathology
Institute of Pathology, Room 418
2085 Adelbert Rd
Cleveland, OH 44106-4907
USA
Tel: 2163680587
Fax: 2163684090
Email: cjdsurv@cwru.edu
Internet: http://www.cjdsurveillance.com

Human BSE Foundation
Matfen Court
Chester Le Street
County Durham, DH2 2TX
UK
Tel: 0191 389 4157
Email: info@hbsef.org
Internet: http://www.hbsef.org

C-Mac Informational Services, Inc.
120 Clinton Lane
Cookeville, TN 38501-8946
Tel: (931)268-1201
Email: caregiver_cmi@hotmail.com
Internet: http://www.caregivernews.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:   5/12/2006
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Last updated:	May 12, 2006