Creutzfeldt-Jakob Disease (CJD) is a very rare brain disorder that causes rapid mental decline and death. CJD destroys brain cells, making the brain appear sponge-like under a microscope. Most people with CJD die within a year of developing symptoms.
There are four types of CJD, each with a different cause:
Sporadic CJD: The most common type, caused by the abnormal folding of prion proteins in the body. Scientists do not know why this happens.
Familial CJD: Caused by inheriting a faulty gene from a parent. This accounts for 10-15% of CJD cases each year.
Acquired CJD: The rarest form, caused by contact with infected medical instruments, organs, or growth hormones. This accounts for less than 1% of CJD cases.
Variant CJD (vCJD): Thought to be from eating meat from an animal afflicted with bovine spongiform encephalopathy (BSE), commonly known as mad cow disease. This is a separate condition from classic CJD. No definitive connection has been made between ingesting venison from an animal with chronic wasting disease and vCJD.
Symptoms of CJD develop and worsen rapidly. Common signs include:
Confusion
Difficulty walking
Jerky muscle movements or twitching
Personality changes
Memory and judgment problems
Vision issues
Some people with CJD may also experience sleep disturbances or depression. As the disease progresses, individuals may lose the ability to speak or move, develop pneumonia or other infections, or fall into a coma.
In recent years, new tests have been developed with very high diagnostic accuracy for CJD. Testing will often include MRI, EEG, and lumbar puncture. More laboratory tests are being developed to make diagnosis quicker, less invasive, and more accurate.
Tests that may help with diagnosis include:
Magnetic Resonance Imaging (MRI) to detect changes in the brain over time
Electroencephalogram (EEG) to measure electrical activity in the brain
Lumbar puncture (spinal tap) to test for certain proteins in the spinal fluid
Ultimately a biopsy or autopsy will give a definitive diagnosis, but biopsies are generally not performed due to the risks involved for both the patient and the doctor.
Currently, there are no effective treatments for CJD. Researchers have tested several drugs, but none have been able to slow or stop the disease. Treatment focuses on managing symptoms and providing comfort. Doctors may prescribe pain medication, muscle relaxers, or anti-seizure drugs to help with stiffness. In the late stages of the disease, individuals with CJD require full-time care.
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