Published on Oct 31, 2022 and last reviewed on Feb 02, 2023 - 5 min read
Creutzfeldt-Jakob disease (CJD) is a rare brain disease that causes progressive brain damage that may result in death. Read the article to know more.
Creutzfeldt-Jakob disease (CJD) is a prion disease that affects humans. It is a neurodegenerative disorder with distinct clinical and diagnostic characteristics. This disease progresses quickly and is always fatal. Infection with this disease usually results in death within a year of onset of illness. This rapidly progressive, fatal neurodegenerative disorder is caused by an abnormal isoform of the prion protein, known as cellular glycoprotein. CJD is found all over the world, with an estimated annual incidence of one case per million people in many countries, including the United States.
A majority of CJD patients die within a year of being diagnosed with the illness. Like other prion diseases that affect humans and animals, this disease is classified as transmissible spongiform encephalopathy (TSE). It affects approximately 85% of patients as a sporadic disease with no discernible pattern of transmission. CJD is caused by inherited mutations in the prion protein gene in a smaller proportion of patients (up to 15%). Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia are examples of their inherited forms.
A protein known as a prion causes CJD. This interferes with the ability of other proteins to function, causing the normal proteins to fold abnormally. CJD is extremely rare and has various kinds.
The following are the most common types of CJD:
Sporadic CJD: The majority of CJD cases are sporadic. It happens for no apparent reason. It typically begins at the age of 65.
Acquired CJD: This includes the form associated with the mad cow disease variant of CJD (vCJD). Eating infected meat causes this variant of CJD. It is believed that the infection that causes the disease in cows is the same one that causes vCJD in humans.
Familial CJD: When a person inherits the abnormal prion from a parent, they develop familial CJD under rare circumstances.
Iatrogenic CJD: This is another type of acquired CJD. Iatrogenic CJD can be transmitted through blood products, transplants, or contaminated surgical instruments.
Variant CJD: This accounts for less than 1% of all CJD cases. It primarily affects young people. This disease has only affected about 200 people worldwide. Almost all of the incidents occurred in England and France.
CJD may be linked to a number of other prions-related diseases, including:
Chronic wasting illness (found in deer).
Scrapies (found in sheep).
Kuru's disease (affects mostly women in New Guinea who eat the brains of dead relatives as part of a funeral ritual).
Other extremely rare inherited human diseases include Gerstmann-Straussler disease and fatal familial insomnia.
Creutzfeldt-Jakob disease is distinguished by rapid mental deterioration, which usually occurs within a few months.
Typical early signs and symptoms include:
Blindness or blurred vision.
Mental symptoms worsen as the disease progresses.
Difficulties speaking and swallowing.
Quick and jerky movements.
The majority of people eventually go into a coma. The most common causes of death are heart failure, lung (respiratory) failure, pneumonia, or other infections, which usually occur within a year.
CJD is a low-risk disease. Coughing, sneezing, touching, or sexual contact cannot spread the disease.
CJD can manifest in three ways:
Sporadic: The majority of people who develop classic CJD do so for no apparent reason. This type is known as spontaneous CJD or sporadic CJD.
Inheritance: Only about 15 % of people with CJD have a family history of the disease or test positive for a genetic mutation linked to the disease. This type is known as familial CJD.
Contamination: CJD has been diagnosed in a small number of people who were exposed to infected human tissue during a medical procedure such as a cornea or skin transplant. Furthermore, because standard cleaning methods do not destroy abnormal prions, a few people have developed CJD after having brain surgery using contaminated instruments. A few people have also contracted the disease after eating contaminated beef.
Iatrogenic: These are the cases of CJD caused by medical procedures. The CJD variant is primarily linked to eating mad cow disease-infected beef.
The majority of Creutzfeldt-Jakob disease cases occur for unknown reasons, with no risk factors identified. However, a few factors like age, genetics, and contamination appear to be linked to different types of CJD. Sporadic CJD usually appears later in life, around the age of 60. The onset of familial CJD is slightly earlier, and vCJD affects people much younger, usually in their late twenties. The disease is caused by a genetic mutation in people who have familial CJD. To develop familial CJD, a child must inherit one copy of the mutated gene from either parent. If a person has the mutation, they have a 50 % chance of passing it on to their children. In addition, people who have received infected manufactured human growth hormone or who have had transplants of infected brain tissues (dura mater) may be at risk of iatrogenic CJD.
Creutzfeldt-Jakob disease has a significant impact on the brain and body. CJD usually spreads quickly. People with CJD gradually withdraw from friends and family, eventually losing the ability to recognize or relate to them. They also lose their ability to care for themselves, and many end up in a coma. The illness is always fatal.
Creutzfeldt-Jakob disease cannot be prevented. If there is a family history of neurological disease, one must consider consulting a genetics counselor. They can assist people in assessing the risks associated with their situation.
The treatment of prion diseases is still palliative; no specific therapy has been shown to halt the progression of these diseases. People with CJD will require extensive nursing care and practical assistance as the disease progresses. Some people may require assistance with peeing in addition to feeding, washing, and mobility. A catheter (a tube inserted into the bladder to drain urine) is frequently required. Many people will have difficulty swallowing and may require nutrition and fluids through a feeding tube. Depending on the severity and progression of the disease, it may be possible to treat someone with CJD at home. Many caretakers prefer to use the specialist services of a hospital or hospice because caring for someone with CJD can be distressing and difficult to cope with.
CJD has a very poor prognosis. People suffering from sporadic CJD are unable to care for themselves six months or less after symptoms appear. The disorder is fatal in a relatively short period of time, usually within eight months. The progression of variant CJD is slower, but the disease is still fatal. Few people live for more than a year or two. Infection, heart failure, or respiratory failure are the most common causes of death.
Last reviewed at:
02 Feb 2023 - 5 min read
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