Creutzfeldt-Jakob Disease

What is Creutzfeldt-Jakob Disease?

Creutzfeldt-Jakob Disease (CJD) is a rare and serious brain disorder that causes rapid and progressive damage to the brain. It leads to a quick decline in thinking, memory and movement abilities, often worsening over weeks and months rather than years. CJD is in a group of conditions known as prion diseases, which are caused by abnormal proteins that damage brain tissue.

Who is Affected?

CJD is extremely rare and affects a very small number of people each year. It most often occurs in older adults. Men and women are affected at similar rates.

CJD is caused by abnormal prion proteins that trigger a chain reaction, causing normal proteins in the brain to change shape and function abnormally. This process leads to rapid brain-cell damage and loss.

Most cases occur sporadically with no known cause.

What Are the Causes and Risk Factors?

Uncontrollable Risk Factors

• Increasing age
• Genetic mutations associated with inherited forms of CJD
• Rare exposure to contaminated instruments or tissue
• Inherited prion diseases

Controllable Risk Factors

• There are no known controllable risk factors

What Are the Signs & Symptoms?

Symptoms of CJD progress quickly and worsen rapidly.

• Rapid decline in memory and thinking abilities
• Confusion and difficulty concentrating
• Personality or behavior changes
• Coordination problems and unsteady walking
• Muscle stiffness or jerking movements
• Visual disturbances
• Hallucinations

How is Creutzfeldt-Jakob Disease Diagnosed?

There is no single test that can definitively diagnose CJD. Diagnosis is based on symptoms, medical history and specialized testing.

What Tests Are Used?

• Neurological exam
• Brain imaging (such as MRI or PET)
• Electroencephalogram (EEG)
• Cerebrospinal fluid testing obtained through lumbar puncture
• Blood tests

How is CJD treated?

There is no known cure for CJD and no treatments to slow disease progression. Care focuses on comfort, safety and symptom management. Palliative care and support for caregivers and family members are also important.

When to See Your Doctor

You should talk to your doctor if your or your loved one experiences a decline in memory, thinking or behavior.

When to Seek Emergency Medical Care

Seek immediate medical assistance for any rapid change in memory, behavior or personality as well as any rapid changes in neurological symptoms such as balance, speech or weakness on one side of the body as it could indicate another neurological emergency, such as a stroke.

What Should You Do Next?

If you are concerned about symptoms you or your loved one are experiencing, talk to your healthcare provider. They may refer you to a neurologist for further evaluation. Early evaluation and diagnosis can help guide symptom management, provide support resources and assist with future planning.