Creutzfeldt-Jakob disease

A brain biopsy or an exam of brain tissue after death, known as an autopsy, is the gold standard to confirm the presence of Creutzfeldt-Jakob disease, known as CJD. But health care providers often can make an accurate diagnosis before death. They base a diagnosis on your medical and personal history, a neurological exam, and certain diagnostic tests.

A neurological exam may point to Creutzfeldt-Jakob disease (CJD) if you're experiencing:

• Muscle twitching and spasms.
• Changes in reflexes.
• Coordination problems.
• Vision problems.
• Blindness.

In addition, health care providers commonly use these tests to help detect CJD:

• Electroencephalogram, also known as an EEG. This test measures the brain's electrical activity. It's done by placing small metal discs called electrodes on the scalp. electroencephalogram (EEG) results of people with CJD and variant CJD show a pattern that's not typical.
• Magnetic resonance imaging (MRI). This imaging uses radio waves and a magnetic field to create detailed images of the head and body. MRI is especially useful in looking for brain disorders. MRI creates high-resolution images. People with CJD have characteristic changes that can be detected on certain MRI scans.

• Spinal fluid tests. Spinal fluid surrounds and cushions the brain and spinal cord. In a test called a lumbar puncture, also known as a spinal tap, a small amount of spinal fluid is taken for testing. This test can rule out other diseases that cause similar symptoms to CJD. It also can detect levels of proteins that may point to CJD or variant Creutzfeldt-Jakob disease (vCJD).

  A newer test called real-time quaking-induced conversion (RT-QuIC) can detect the presence of the prion proteins that cause CJD. This test can diagnose CJD before death, unlike an autopsy.

No effective treatment exists for Creutzfeldt-Jakob disease or any of its variants. Many medicines have been tested and haven't shown benefits. Health care providers focus on relieving pain and other symptoms and on making people with these diseases as comfortable as possible.

You're likely to start by seeing your primary care provider. In some cases when you call for an appointment, you may be referred immediately to a brain specialist, known as a 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 medicines, vitamins and supplements you take.
• Bring a family member or friend along, if possible. A family member or friend might help you remember something you missed or forgot.
• Write down questions to ask your health care provider.

For Creutzfeldt-Jakob disease, some basic questions to ask your provider 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 materials I can have? What websites do you recommend?

Don't hesitate to ask other questions.

What to expect from your doctor

Your health care provider 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?