Creutzfeldt-Jakob disease (CJD): causes and symptoms

There are a number of diseases in the world whose percentage of those affected is very low. They are called rare diseases. One of these rare pathologies is Creutzfeldt-Jakob disease (CJD), which will be discussed throughout this article.

In Creutzfeldt-Jakob disease (CJD), an abnormality in a protein causes progressive brain damage that results in an accelerated decline in mental function and movement; reaching the person a coma and death.

What is Creutzfeld-Jakob disease?

Creutzfeldt-Jakob disease (CJD) is established as a rare brain disorder that is also degenerative and invariably fatal. It is considered a very rare disease, since it affects approximately one in every million people.

CJD usually appears in advanced stages of life and is characterized by evolving very quickly. Its first symptoms usually appear at the age of 60 and 90% of patients die within a year of being diagnosed.

These early symptoms are:

• memory failures
• behavior changes
• Lack of coordination
• visual disturbances

As the disease progresses, the mental deterioration becomes very significant, and can cause blindness, involuntary movements, weakness in the extremities and coma.

Creutzfeldt-Jakob disease (CJD) belongs to a family of diseases called transmissible spongiform encephalopathies (TSEs). In these diseases infected brains present holes or holes only perceptible under a microscope; making their appearance similar to that of sponges.

Causes

The main scientific theories maintain that this disease is not caused by a virus or bacteria, but by a type of protein called a prion.

This protein can present both in a normal and innocuous way and in an infectious way, which causes the disease and causes other common proteins to fold abnormally, affecting their ability to function.

When these abnormal proteins appear and stick together, they form fibers called plaques, which can begin to accumulate several years before the first symptoms of the disease begin to appear.

Types of Creutzfeldt-Jakob disease

There are three categories of Creutzfeldt-Jakob disease (CJD):

1. sporadic CJD

It is the most common type and appears when the person does not yet have known risk factors for the disease. It manifests itself in 85% of cases.

2. hereditary

It occurs between 5 to 10 percent of cases. They are people with a family history of the disease or with positive tests for a genetic mutation associated with it.

3. acquired

There is no evidence that CJD is contagious through casual contact with a patient, but there is evidence that it is transmitted by exposure to brain or nervous system tissue. It occurs in less than 1% of cases.

Symptoms and development of this disease

Initially Creutzfeldt-Jakob disease (CJD) manifests as dementia, with personality changes, impaired memory, thinking, and judgment; and in the form of muscular coordination problems.

As the disease progresses, mental deterioration worsens. The patient begins to suffer involuntary muscle contractions or myoclonus, loses bladder control and may even go blind.

Eventually, the person loses the ability to move and speak; until finally the coma occurs. In this last stage, other infections arise that can lead the patient to death.

Although the symptoms of CJD may appear similar to those of other neurodegenerative disorders such as Alzheimer's wave Huntington's disease, CJD causes a much more rapid decline in a person's abilities and has unique changes in brain tissue that can be seen after autopsy.

Diagnosis

For now there is no conclusive diagnostic test for Creutzfeldt-Jakob disease, so its detection is really complicated.

The first step in making an effective diagnosis is to rule out any other treatable forms of dementia.For this, it is necessary to perform a complete neurological examination. Other tests used when diagnosing CJD are spinal extraction and electroencephalogram (EEG).

Also, a computed tomography (CT) or magnetic resonance imaging (MRI) of the brain may be helpful in ruling out that symptoms are due to other problems such as brain tumors, and to identify common patterns in brain degeneration of the ECJ.

Unfortunately, the only way to confirm CJD is through a brain biopsy or autopsy. Due to its danger, this first procedure is not performed unless it is necessary to rule out any other treatable pathology. Besides, the risk of infection from these procedures make them even more complicated to perform.

Treatment and prognosis

Just as there is no diagnostic test for this disease, there is also no treatment that can cure or control it.

Currently, CJD patients receive palliative treatments with the main objective of relieving their symptoms and making the patient enjoy the highest possible quality of life. For these cases, the use of opioid drugs, clonazepam and sodium valproate can help reduce pain and alleviate myoclonus. As for the prognosis, the outlook for a person with CJD is quite grim. Six months or less after the onset of symptoms, patients are unable to care for themselves.

Generally, the disorder becomes fatal in a short period of time, approximately eight months; although a small proportion of people survive up to one or two years.

The most common cause of death in CJD is infection, and cardiac or respiratory failure.

How it is transmitted and ways to avoid it

The risk of CJD transmission is extremely low; doctors who operate on brain or nervous tissue are the ones who are most exposed to it.

This disease cannot be transmitted through the air, nor through any contact with a person who has it. However, direct or indirect contact with brain tissue and spinal cord fluid does pose a risk.

To avoid the already low risk of infection, people suspected or already diagnosed with CJD should not donate blood, tissue, or organs.

Regarding the people who are in charge of caring for these patients, health professionals and, Even funeral professionals must adopt a series of precautions when carrying out their job. Some of these are:

• Wash hands and exposed skin
• Cover cuts or abrasions with waterproof bandages
• Wear surgical gloves when handling patient tissue and fluids
• Wear face protection and bedding or other disposable clothing
• Thoroughly clean the instruments used in any intervention or that have been in contact with the patient