Creutzfeldt-Jakob disease

Creutzfeldt-Jakob disease (CJD) is a rare and serious disease. It causes small holes in the brain. This causes the brain to become spongy. This leads to dementia and is fatal (leads to death).

In Australia, there are 35 cases of CJD each year. It most often occurs in people aged between 50 and 70 years old.

CJD belongs to a group of rare diseases known as transmissible spongiform encephalopathies (TSE) or prion diseases.

CJD is the most common form of TSE that happens in humans.

TSE can also affect animals. The most well-known form of TSE is bovine spongiform encephalopathy (BSE), also known as 'mad cow' disease.

Types of CJD

There are different types of CJD. These include:

• sporadic CJD — CJD that occurs for no known reason
• genetic CJD — CJD that is passed on through families
• acquired CJD — a very rare form of CJD that comes from other sources

CJD is caused by infectious particles called prions.

A prion is a protein. Prions can become infectious when they are misfolded. This changes their shape and function. A build-up of prions changes your brain structure. It can damage your brain cells and your nervous system.

CJD is not spread from person to person through kissing, sneezing, coughing or body contact. The way CJD is caused depends on the type of CJD you have.

Sporadic CJD

Sporadic CJD occurs for no obvious reason. This is very rare, progresses quickly and affects 1 to 2 in every 1 million people each year.

Genetic CJD

Genetic or familial CJD is an inherited form of the disease.

Acquired CJD

Different types of acquired CJD have different causes.

Medically acquired CJD is when the prions are spread accidentally during a medical procedure. It is very rare, but it could happen if medical staff use contaminated instruments. Some people have caught CJD after brain surgery or after receiving contaminated human pituitary hormones or corneal transplants.

Variant CJD (vCJD) is a type of CJD with different symptoms. It can be caused by eating meat from cows that had mad cow disease. Blood and blood products can also transmit vCJD. Mad cow disease is a fatal disease that affects cattle. There have been no cases of mad cow disease or vCJD in Australia. Most cases of vCJD have occurred in the UK, following an outbreak of mad cow disease in the 1990s.

CJD usually causes problems with thinking and movement that get worse very quickly. Symptoms can be different from person to person.

The first symptoms can include:

• changes in mood, such as unexplained anxiety
• changes in behaviour
• decline in concentration and memory
• unsteadiness
• muscle stiffness and jerking movements
• confusion

These symptoms may be followed by:

• blurred vision or blindness
• unclear speech
• hallucinations — seeing or hearing things that don't exist

The symptoms of variant CJD (vCJD) can be different. People with vCJD tend to be younger. It usually begins with symptoms such as:

• depression
• anxiety
• delusions

After about 6 months other symptoms develop, such as:

• memory problems
• pain or unusual sensations
• problems with walking
• loss of control over movements
• vision problems

For sporadic and genetic CJD, death usually occurs within 4 to 6 months after the start of symptoms. vCJD happens more slowly. Death usually occurs after about 14 months from the start of symptoms.

All forms of CJD progress to dementia and the inability to move or speak.

The risk of getting CJD is very low in Australia.

You should see your doctor if you have lost a family member to CJD. This may increase your risk of developing CJD.

Always tell your doctor or dentist if you have a family member with CJD. They will need to follow special infection control guidelines.

Doctors may suspect someone has CJD based on their symptoms. If someone shows signs of CJD, there are tests to help make the diagnosis. These might include:

• an electroencephalogram (EEG)
• magnetic resonance imaging (MRI) scan of the brain
• a lumbar puncture

CJD can be confirmed only by doing special tests on brain tissue. Often these tests are only done during an autopsy (Opens in new tab), after the affected person has died.

There is no cure for CJD. Research for a cure is continuing.

Treatment aims to relieve symptoms. This is known as palliative care and may include:

• medicines to control pain and jerking movements
• fluids to keep the person hydrated
• catheters to help drain urine (wee)
• changing the person's position to prevent pressure sores

People with CJD may receive care from different healthcare professionals, such as a:

• neurologist
• psychiatrist
• speech pathologist
• occupational therapist
• social worker

Many people with CJD are cared for by their loved ones at home. Nurses can also provide care at home. Others are cared for in a:

• hospital
• nursing home
• hospice

You can learn more about end of life health.

CJD is always fatal. Most patients die within a year of the symptoms starting. Only a small number of people survive for more than 2 years.

There is no way to prevent sporadic CJD.

To assess your risk of genetic CJD, you can talk to a genetic counsellor. If there are people in your family with CJD, you can have genetic testing.

Medically acquired CJD is very rare in Australia. The healthcare system has strict infection control rules to prevent this.

In Australia, the rules for blood donation were changed in July 2022. You can donate blood if you lived in the United Kingdom at any time during the 1980s and 1990s. You can't donate blood if someone in your family has inherited CJD.

Australia does not import meat from countries affected by BSE.

For more information, you can contact the CJD Support Group Network (Opens in new tab) on 1800 052 466.

You can read more about coping with learning you have a terminal illness.

If you are caring for someone with CJD, visit Carer Gateway (Opens in new tab) for support or call 1800 422 737.

You can read more about thinking about death and advance care planning.

You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to speak with you 24 hours a day, 7 days a week.