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Important Answers about Creutzfeldt-Jakob Disease
- Creutzfeldt-Jakob Disease Overview
- CJD Causes and Risks
- CJD Symptoms
- Diagnosing Creutzfeldt-Jakob Disease
- Treating Creutzfeldt-Jakob Disease
- Preventing Creutzfeldt-Jakob Disease
Creutzfeldt-Jakob Disease Overview
The CDC (Centers for Disease Control and Prevention) claims that classic Creutzfeldt-Jakob Disease (CJD) is a rare human prion disease neurodegenerative disorder that progresses rapidly, eventually leading to dementia and eventual death. The disease is thought to be caused by an abnormal prion protein. Creutzfeldt-Jakob Disease affects approximately one out of every 1 million in the population. Classic CJD is not in any way related to “variant” Creutzfeldt-Jakob (mad cow) Disease, which has been tied to consuming diseased cattle.
Scientists have yet to discover why or understand how prion protein can kill brain cells and cause a rapid decline in reasoning, memory and thinking or how it produces involuntary muscle movements or causes mood changes, confusion, and difficulty when walking. There are three specific types of Creutzfeldt-Jakob Disease (CJD) including:
- Sporadic – This form of Creutzfeldt-Jakob Disease is known to develop spontaneously. Nearly 9 out of every 10 cases of the disease is the sporadic type that generally first appears in individuals between the age of 60 and 65. No apparent risk factors have been determined, though scientists are constantly searching for clues.
- Familial (inherited) – This hereditary form of Creutzfeldt-Jakob Disease is directly related to the prion protein gene that can be inherited from an affected parent. Typically, 10 to 15 out of every 100 cases involve the Familiar CJD type of this memory loss disease. While the prion protein does not contain genetic data or require that the gene reproduces itself, a gene mutation can cause the prion protein to act abnormally.
- Acquired – Approximately one percent of all Creutzfeldt-Jakob Disease cases are required from exposure of abnormal prion protein from an external source that could be acquired by:
- Medical Procedures involving transplanted human tissue (especially corneal transplants or a meningeal graph), human growth hormone use, or neurosurgery instruments.
- Contaminated Cattle that were infected with “mad cow disease” (bovine spongiform encephalopathy).
Creutzfeldt-Jakob Disease Causes and Risks
Classic (sporadic) cases of CJD have no known cause. In addition, there is no specific identified link between the abnormal protein and transmission from blood transfusions or sexual activity. It is yet to be determined if a mutation of the prion protein has any effect in making individuals vulnerable to acquiring the horrific disease from an external source.
There is a link between animals and humans involving acquired CJD that include infected cows (bovine spongiform encephalopathy (BSE), feline encephalopathy, Mink encephalopathy and scrappy which affects goats and sheep. Similar diseases have also been leaked to exotic zoo animals, deer and elk.
An individual suffering from classic Creutzfeldt-Jakob Disease can experience a variety of symptoms that could include:
- Difficulty in walking
- Increasingly worsening disorientation, confusion, judgment, planning, thinking, and memory.
- Involuntary jerking movements, twitches, and muscle stiffness
- Agitation, mood swings, and apathy
Many of the symptoms involving Creutzfeldt-Jakob Disease are like other progressive neurological disorders such as Huntington’s disease and Alzheimer’s disease. However, the damage to the brain tissue is uniquely different from other dementias which tend to deteriorate more rapidly in Creutzfeldt-Jakob Disease compared with Alzheimer’s disease or another form of dementia.
Diagnosing Creutzfeldt-Jakob Disease
A rapid progression of symptoms is one of the most essential clues to a doctor when making a diagnosis of an individual who might be suffering from Creutzfeldt-Jakob Disease. There are no simple or comprehensive diagnostic tests or a combination of tests that exist to conclusively verify that a living individual has sporadic Creutzfeldt-Jakob Disease. Because of that, doctors can only use three specific tests to gain insight to determine if the individual suffering from CJD. These tests include:
- Spinal Tap (lumbar puncture) – The doctor will test the patient’s spinal fluid to determine if certain proteins are present. If the 14-3-3 protein is found in the spinal fluid, and the individual is experiencing common symptoms of the disease, doctors often conclude that there is a high probability the individual has Creutzfeldt-Jakob Disease.
- Brain MRI (magnetic resonance imaging) – An image of the brain can help identify specific brain changes known to occur with all forms of Creutzfeldt-Jakob Disease.
- EEG (electroencephalogram) – This test measures electrical activity patterns in the brain. It is often used in conjunction with an ECG (electrocardiogram) that can measure the patient’s heart electrical activity.
Extensive biopsies of the brain have been conducted on the patient after death to reveal spongy brain tissue with tiny holes where nerve cell clumps were destroyed. An autopsy is usually the only procedure that can accurately verify the disease.
Treating Creutzfeldt-Jakob Disease
No known treatment for Creutzfeldt-Jakob Disease or another prion disease is available and no known cure exists. Common drugs used for memory loss have not proven to be effective at providing benefit to patients who suffer from the disease. Some clinical studies involving potential treatment for the disease are complicated.
The rarity of Creutzfeldt-Jakob Disease and its rapid progression in the decline of the patient have made it difficult in determining what medication, treatment or procedure could be effective. Even so, researchers have used a variety of prescription medications to determine the effectiveness of the drug an individual suffering from CJD. These medications include:
- Antiviral agents
- Anti-seizure medications and muscle relaxers to help the patient with stiffness
- Opiate drugs to relieve or minimize pain
- Clonazepam and sodium valproate which are effective at relieving myoclonus
Because the disease progresses rapidly, many individuals suffering from the condition quickly lose the capacity to speak or move. In relatively short time, the individual will require full-time caregiving to ensure that their ADL (activities of daily living) are met. Approximately 9 out of every 10 individuals suffering from Creutzfeldt-Jakob Disease will die within one year after their diagnosis.
Individuals who have developed familial Creutzfeldt-Jakob Disease tend to live longer than individuals suffering from the sporadic and variant types of CJD. However, scientists and researchers have not yet determined why there is a significant difference in the length of their survival longevity. No studies exist that show a correlation between sporadic CJD and the infectious prions of variant Creutzfeldt-Jakob Disease and BSE.
Preventing Creutzfeldt-Jakob Disease
Preventative measures can be taken to prevent Creutzfeldt-Jakob Disease including sterilizing all medical equipment used by the patient to kill off any organism known to cause the disease. In addition, individuals should avoid accepting any cornea donation from individuals who have a medical history of possible or diagnosed CJD. The U.S. and other countries have strict guidelines on managing cows used for milking and consumption to avoid the risk of transmitting the disease to humans.
If an individual is exposed to a patient diagnosed with Creutzfeldt-Jakob Disease, it is advisable to follow specific guidelines that include:
- Cover cuts, open wounds, and skin abrasions.
- Wear gloves when handling fluid, blood or tissue from the patient.
- Wear disposable clothing or gowns when making contact with the diagnosed patient
- Sterilize equipment used near or on the patient.
- Wear eye protection, a mask, or face shield if there is any potential of splashing any contaminated fluid around or from the patient.