Diagnosis

Only a brain biopsy or an exam of brain tissue after death (autopsy) can confirm the presence of Creutzfeldt-Jakob disease (CJD). 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 may also have areas of blindness and changes in visual-spatial perception.

In addition, doctors commonly use these tests to help detect CJD:

  • Electroencephalogram (EEG). This test measures the brain's electrical activity using electrodes placed on the scalp. People with and vCJD show a characteristically abnormal pattern.
  • MRI. This imaging technique uses radio waves and a magnetic field to create cross-sectional images of the 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 the brain and spinal cord. In a test called a lumbar puncture — commonly known as a spinal tap — doctors use a needle to withdraw a small amount of this fluid for testing. This test is often used to rule out other neurological diseases, but elevation of certain proteins that usually occurs in the brain may indicate CJD or vCJD.

    Real-time quaking-induced conversion (RT-QuIC), is a newer test that can detect the presence of the prion proteins that cause in spinal fluid and help establish the diagnosis.

Treatment

No effective treatment exists for Creutzfeldt-Jakob disease or any of its variants. Many drugs have been tested and haven't shown benefits. For that reason, doctors focus on relieving 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 doctor. 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?