Creutzfeldt-Jakob Disease

Medically Reviewed By William C. Lloyd III, MD, FACS
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What is Creutzfeldt-Jakob disease (CJD)?

Creutzfeldt-Jakob disease (pronounced KROYTS-felt YAH-kuhb) is a rapidly progressing, fatal neurodegenerative disease thought to be caused by a pathologic agent called the prion protein. CJD occurs sporadically worldwide, with about 1 to 1.5 cases per 1 million of the population per year.

The risk of CJD increases with age, averaging an annual rate in the United States of 3.6 cases per million in individuals 50 years and older. A small proportion of patients develop CJD because of inherited mutations of the prion protein gene.

Signs and symptoms of Creutzfeldt-Jakob disease appear within a few months of disease onset and are characterized by mental deterioration, dementia, and neurological symptoms. As the disease progresses, symptoms rapidly worsen and most people fall into a coma. Heart and lung failure, pneumonia, or other infections are typically the cause of death. Death usually occurs within a year of symptom onset.

Currently, no effective treatment for Creutzfeldt-Jakob disease exists. Many drugs have been tested but none has proven successful. Treatment is focused on making patients with CJD as comfortable as possible and helping relieve symptoms of the disease. People with CJD or their caregivers should seek immediate medical care or call 911 for serious symptoms including impaired thinking, difficulty swallowing, or difficulty speaking.

What are the different types of Creutzfeldt-Jakob disease?

There are three major types of Creutzfeldt-Jakob disease:

  • Sporadic CJD: This is the most common type, which accounts for 85% of cases. This type appears with no prior risk factors.

  • Hereditary CJD: The person may have a family history of the disease and have a genetic mutation. This type accounts for about 10 to 15% of cases in the United States.

  • Acquired CJD: Transmission occurs through exposure of the disease to brain or nervous system tissue, usually through medical procedures. This type accounts for fewer than 1% of cases. Variant CJD (vCJD) can be acquired by eating meat from cattle with bovine spongiform encephalopathy, commonly called mad cow disease.

What are the symptoms of Creutzfeldt-Jakob disease?

Common symptoms of Creutzfeldt-Jakob disease

Initial symptoms of CJD include problems with muscle coordination, memory loss, personality changes, incoordination, and impaired vision. Advanced symptoms develop as the disease progresses and include involuntary muscle jerks and possible blindness. In the final stages of CJD, people lose the ability to move or speak and eventually enter into a coma. Variant CJD typically presents with psychiatric symptoms.

What causes Creutzfeldt-Jakob disease?

Creutzfeldt-Jakob disease is caused by the smallest known life forms called prions. Prions are much smaller than viruses. Normal prion proteins are found throughout the body but are most abundant in the nervous system. In sporadic CJD, the infectious prions are thought to be caused by an error in the part of the cell that makes proteins and controls their quality. The errors are most likely to occur with aging.

The hereditary form of CJD arises when mutations occur in the gene of the body’s normal prion protein. As the mutated gene replicates, it spontaneously changes shape to the infectious form.

In the acquired form of CJD, the infectious prion agent originates from outside the body, such as through contaminated meat. The infectious protein then clings to and changes the shape of the normal prion protein and progressively spreads towards the brain, causing lesions.

What are the risk factors for Creutzfeldt-Jakob disease?

Most causes of Creutzfeldt-Jakob disease are unknown; however, a few factors seem to be associated with CJD. Some risk factors for Creutzfeldt-Jakob disease include:

  • Age

  • Genetics

  • Exposure to contaminated tissue

Reducing your risk of Creutzfeldt-Jakob disease

Although there is no way to prevent Creutzfeldt-Jakob disease, having a discussion with a genetic counselor may be beneficial if you have a family history of neurological disorders. You can also discuss any risk factors with your primary care provider.

What are tips for Creutzfeldt-Jakob disease caregivers?

Caregivers for people with Creutzfeldt-Jakob disease face a variety of physical and emotional challenges. It is important for caregivers to seek support and avoid burnout through steps including:

  • Asking friends or hiring professional services to provide respite care, so the caregiver can take breaks

  • Finding services or asking friends to help provide meals or run errands

  • Seeking out online or in-person support groups with other caregivers to share experiences

  • Talking to a professional counselor about the stress of caregiving and to learn coping tools

  • Using stress reduction techniques, such as therapy, massage, exercise, or meditation

Caregivers may sometimes feel guilty about taking time for themselves or asking for help. But by keeping themselves healthy, both physically and mentally, caregivers will be better able to provide the support their loved one needs.

What are some conditions related to Creutzfeldt-Jakob disease?

Other human prion diseases include:

  • Fatal familial insomnia (FFI), a rare genetic disease in which a person increasingly becomes unable to sleep, leading to physical and mental decline

  • Gerstmann-Straussler-Scheinker disease (GSS), a progressive degenerative condition that affects the cerebellum

  • Kuru, a very rare condition found among people who practiced a form of cannibalism that involved eating contaminated human brain tissue

How do doctors diagnose Creutzfeldt-Jakob disease?

To diagnose Creutzfeldt-Jakob disease, doctors often perform a few tests:

  • Electroencephalography (EEG), which records the brain’s electrical patterns and allows doctors to identify changes

  • Lumbar puncture, in which a sample of cerebrospinal fluid is removed and tested for abnormal cells, viruses or bacteria

  • Magnetic resonance imaging (MRI), a scan that provides images of the brain to identify areas of damage or deterioration

Magnetic resonance imaging has been shown to be accurate in 90% of cases; however, a brain biopsy is the only way to confirm a diagnosis of Creutzfeldt-Jakob disease. This procedure is very invasive and is not done unless absolutely necessary to treat the disease.

What are the treatments for Creutzfeldt-Jakob disease?

There is no current treatment to cure or control Creutzfeldt-Jakob disease. Care focuses on providing comfort measures and helping relieve symptoms. Opioid medication can help provide pain relief and anti-epileptic medication can help for reducing tremors or involuntary muscle jerks. Currently, there are a variety of drug studies being done to help people living with Creutzfeldt-Jakob disease.

How does Creutzfeldt-Jakob disease affect quality of life?

Because CJD is a fatal disease, it may be helpful to have a discussion about medical wishes if you or a loved one is diagnosed with Creutzfeldt-Jakob disease. This can include a living will and appointing a power of attorney.

During end-of-life care, resources are available that can provide support for patients, caregivers, and loved ones, including:

  • Home hospice, inpatient hospice, or nursing home care

  • At-home nursing visits

  • Social workers to guide in end-of-life decisions

  • Grief counseling for loved ones

People with chronic conditions and their caregivers may benefit from joining a support group. Art therapy and music therapy can also offer comfort and calm for people living with Creutzfeldt-Jakob disease.

What are the potential complications of Creutzfeldt-Jakob disease?

Complications of Creutzfeldt-Jakob disease include:

  • Social withdrawal from loved ones

  • Inability to recognize or relate to loved ones

  • Inability to care for oneself

  • Coma

What is the survival rate and prognosis for Creutzfeldt-Jakob disease?

Creutzfeldt-Jakob disease is a fatal disease with an average age of death at about 68 years and illness lasting about 4 to 5 months. CJD progresses quickly but can be helped by medications that reduce symptoms and pain. It is important to remember that each case—and person—is unique. Your doctor and care team can work with you to plan for next steps following a Creutzfeldt-Jakob disease diagnosis.

Creutzfeldt-Jakob disease awareness

There is still much research being done to learn more about Creutzfeldt-Jakob disease. Medical organizations such as the National Institute of Neurological Disorders and Stroke conduct research to better understand and help individuals with Creutzfeldt-Jakob disease. Advocacy groups such as the Creutzfeldt-Jakob Disease Foundation exist to help raise awareness of this condition and to support families and caregivers.

The CJD foundation hosts an annual walk/run called Strides for CJD to raise awareness for Creutzfeldt-Jakob disease.

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Medical Reviewer: William C. Lloyd III, MD, FACS
Last Review Date: 2021 Aug 17
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THIS TOOL DOES NOT PROVIDE MEDICAL ADVICE. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. Never ignore professional medical advice in seeking treatment because of something you have read on the site. If you think you may have a medical emergency, immediately call your doctor or dial 911.
  1. Creutzfeldt-Jakob Disease, Classic (CJD). Centers for Disease Control and Prevention. https://www.cdc.gov/prions/cjd/index.html
  2. Creutzfeldt-Jakob Disease Fact Sheet. National Institute for Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Creutzfeldt-Jakob-Disease-Fact-Sheet#2
  3. Creutzfeldt-Jakob Disease. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/creutzfeldt-jakob-disease/symptoms-causes/syc-20371226
  4. Supporting Families Affected by Prion Disease. Creutzfeldt-Jakob Disease Foundation, Inc. https://www.cjdfoundation.org/
  5. Lumbar Puncture. Johns Hopkins Medicine. https://www.hopkinsmedicine.org/health/treatment-tests-and-therapies/lumbar-puncture
  6. Fatal Familial Insomnia. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/fatal-familial-insomnia/
  7. Gerstmann-Straussler-Scheinker disease. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/7690/gerstmann-straussler-scheinker-disease
  8. Kuru. MedlinePlus, National Library of Medicine, National Institutes of Health. https://medlineplus.gov/ency/article/001379.htm