The Creutzfeldt-Jakob disease (CJD) affects about one to two people per million every year and is a rare and fatal brain disease. The disease is a form of prion disease caused by abnormal proteins that damage brain cells. Within a year of onset, CJD can cause rapid deterioration of mental and physical abilities, resulting in death.
There are three main types of CJD, depending on how the disease is acquired:
It occurs when a normal prion protein in the brain spontaneously changes into an abnormal one for unknown reasons, causing sporadic CJD.
It occurs when a person inherits a mutation that makes the prion protein more likely to become abnormal, which accounts for approximately 10% of cases.
CJD acquired from another source, such as contaminated human tissue or animal products, is a very rare type of CJD, occurring in less than 1% of cases.
The symptoms of CJD vary depending on the type and the stage of the disease, but they generally include:
Personality changes, such as mood swings, anxiety, depression, or loss of interest
Memory loss and impaired thinking, such as confusion, disorientation, or dementia
Problems with coordination, such as difficulty walking, balancing, or speaking
Vision problems, such as blurred vision, double vision, or blindness
Insomnia and other sleep disturbances
Muscle spasms, twitching, or jerking movements
Seizures and coma
It is difficult to diagnose CJD, especially in its early stages, because the symptoms can mimic those of other neurological conditions.
Medical history and physical examination
Neurological tests, such as electroencephalogram (EEG), magnetic resonance imaging (MRI), or positron emission tomography (PET) scan
Cerebrospinal fluid (CSF) analysis, which can detect abnormal prion proteins or other markers of the disease
Brain biopsy, which involves taking a small sample of brain tissue and examining it under a microscope
Treatment options for CJD are mainly supportive and palliative, aiming to relieve the symptoms and improve the quality of life of the patient and caregivers. They include:
Medications, such as painkillers, sedatives, anticonvulsants, or antidepressants
Nursing care, such as feeding, bathing, dressing, or preventing bedsores
Physical therapy, such as massage, stretching, or exercises
Occupational therapy, such as providing aids or devices to help with daily activities
Speech therapy, such as teaching alternative ways of communication
Psychological support, such as counseling, education, or support groups
Sporadic and familial CJD cannot be prevented, but acquired CJD can be prevented by avoiding exposure to potentially contaminated human or animal products.
Following strict infection control guidelines in health care settings, such as using disposable instruments, sterilizing reusable equipment, or screening blood donors
Avoiding consumption of meat or organs from animals that may have prion diseases, such as cows, sheep, or deer
Avoiding use of products that may contain animal-derived ingredients, such as cosmetics, vaccines, or supplements
Seeking medical advice before undergoing any procedures that involve the brain or the nervous system, such as surgery, transplantation, or injections
In order to receive adequate treatment and support throughout the course of the disease, it is important to seek medical attention as soon as possible if any of the symptoms are noticed.
