Creutzfeldt-Jakob disease
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Creutzfeldt-Jakob disease (CJD) is a rare, degenerative, invariably fatal brain disorder. It affects about one person in every one million people per year worldwide. CJD usually appears in later life and runs a rapid course. Typically, onset of symptoms occurs about age 60, and about 90 percent of patients die within 1 year. In the early stages of disease, patients may have failing memory, behavioral changes, lack of coordination and visual disturbances. As the illness progresses, mental deterioration becomes pronounced and involuntary movements, blindness, weakness of extremities, and coma may occur.[1]
CJD belongs to a family of human and animal diseases known as the transmissible spongiform encephalopathies (TSEs). Spongiform refers to the characteristic appearance of infected brains, which become filled with holes until they resemble sponges under a microscope. CJD is the most common of the known human TSEs. Other human TSEs include kuru, fatal familial insomnia (FFI), and Gerstmann-Straussler-Scheinker disease (GSS).[1]
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Creutzfeldt-Jakob disease
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General | Management Guidelines | Selected Full-Text Journal Articles | Insurance Issues
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More Detailed Information (Found 13 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer
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General
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You can obtain comprehensive information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States. Click on the link to read information on this condition.
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Genetics Home Reference (GHR) contains information on Creutzfeldt-Jakob disease. Click on the link to go to GHR and review the information.
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MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
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Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
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The National Endocrine and Metabolic Diseases Information Service, a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), provides information on this topic. Click on the link to view the information on this topic.
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The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
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The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Creutzfeldt-Jakob disease. Click on the link to go to OMIM and review these resources.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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PubMed is a searchable database of medical literature and lists journal articles that discuss Creutzfeldt-Jakob disease. Click on the link to view a sample search on this topic.
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Management Guidelines
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GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
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Selected Full-Text Journal Articles
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Insurance Issues
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The Social Security Administration (SSA) created the Compassionate Allowance Initiative to speed up the processing of disability claims for applicants with certain conditions. Click on the link to view the Compassionate Allowance information for this condition. More information about applying for Social Security disability benefits is available online.
Link: https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022145
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Testing | Genetic Services | Parent Resources
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Services (Found 4 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer
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Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.
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Testing
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GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
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Genetic Services
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You may wish to discuss your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:
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Parent Resources
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The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
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Scientific Conferences (Found 3 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer
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Past Conferences
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RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
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Third Genome Dynamics in the Neurosciences Conference, July 18, 2010 - July 22, 2010
Location: The Hilton Metropole, Brighton
Description: The goal of this meeting was to integrate basic processes of DNA damage signaling and repair and clinical aspects of neurological and neurodegenerative disease. The program was designed to bring together leading scientists with primary interests in DNA damage signaling with those working in specific related neurodegenerative disease areas as a means for integrating these fields. It was anticipated that this would generate insights into how normal processes of genome maintenance in the brain contribute to the prevention of a wide range of diseases.
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VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
Location: Palais Rouge Convention Center, Palermo, Buenos Aires
Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
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Clinical Trials & Research (Found 4 resources)
Resources where you may find research studies and clinical trials. Disclaimer
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ClinicalTrials.gov lists trials that are studying or have studied Creutzfeldt-Jakob disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
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The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
Link: http://projectreporter.nih.gov/reporter.cfm
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Patient Registry
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ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.
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