Only a brain biopsy or an examination of brain tissue after death (autopsy) can confirm the presence of Creutzfeldt-Jakob disease. But doctors often can make an accurate diagnosis based on your medical and personal history, a neurological exam, and certain diagnostic tests.
The exam is likely to reveal characteristic symptoms such as muscle twitching and spasms, abnormal reflexes, and coordination problems. People with CJD also may have areas of blindness and changes in visual-spatial perception.
In addition, doctors commonly use these tests to help detect CJD:
- Electroencephalogram (EEG). Using electrodes placed on your scalp, this test measures your brain's electrical activity. People with CJD and vCJD show a characteristically abnormal pattern.
- MRI. This imaging technique uses radio waves and a magnetic field to create cross-sectional images of your head and body. It's especially useful in diagnosing brain disorders because of its high-resolution images of the brain's white and gray matter.
- Spinal fluid tests. Cerebral spinal fluid surrounds and cushions your brain and spinal cord. In a test called a lumbar puncture — popularly known as a spinal tap — doctors use a needle to withdraw a small amount of this fluid for testing. The presence of a particular protein in spinal fluid is often an indication of CJD or vCJD.
No effective treatment exists for Creutzfeldt-Jakob disease or any of its variants. A number of drugs have been tested and have not shown benefits. For that reason, doctors focus on alleviating pain and other symptoms and on making people with these diseases as comfortable as possible.
Preparing for your appointment
You're likely to start by seeing your family doctor or a general practitioner. In some cases when you call for an appointment, you may be referred immediately to a brain specialist (neurologist).
Here's some information to help you prepare for your appointment.
What you can do
- List your symptoms, including any that may seem unrelated to the reason for which you scheduled the appointment.
- Write down key personal information, including recent life changes.
- List medications, vitamins and supplements you take.
- Bring a family member or friend along, if possible. Someone who accompanies you might help you remember something you missed or forgot.
- Write down questions to ask your doctor.
For Creutzfeldt-Jakob disease, some basic questions to ask your doctor include:
- What is likely causing my symptoms?
- Other than the most likely cause, what are other possible causes for my symptoms?
- What tests do I need?
- What is the best course of action?
- Are there restrictions I need to follow?
- Should I see a specialist?
- I have other medical conditions. How do I manage them together?
- Are there brochures or other printed material I can have? What websites do you recommend?
Don't hesitate to ask other questions.
What to expect from your doctor
Your doctor is likely to ask you a number of questions, including:
- When did your symptoms begin?
- Have your symptoms been continuous or occasional?
- How severe are your symptoms?
- What, if anything, seems to improve your symptoms?
- What, if anything, appears to worsen your symptoms?
- Has anyone in your family had Creutzfeldt-Jakob disease?
- Have you lived or traveled extensively outside the United States?
Oct. 04, 2018
- Creutzfeldt-Jakob disease fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/cjd/detail_cjd.htm. Accessed July 30, 2015.
- Relationship with BSE (mad cow disease). Centers for Disease Control and Prevention. http://www.cdc.gov/prions/vcjd/relationship-with-bse.html. Accessed July 30, 2015.
- Brown HG, et al. Creutzfeldt-Jakob disease. http://www.uptodate.com/home. Accessed July 30, 2015.
- Brown HG, et al. Variant Creutzfeldt-Jakob disease. https://www.uptodate.com/contents/search. Accessed May 24, 2018.
- Kleinman S. Blood donor screening: Medical history. https://www.uptodate.com/contents/search. Accessed May 30, 2018.