Creutzfeldt-Jakob disease (CJD): causes, symptoms, diagnosis and treatment.

A rare and relatively unknown disease. We explain what it is.

There are a number of diseases in the world where the percentage of people affected is very small. These are the so-called rare diseases. One of these rare diseases is Creutzfeldt-Jakob disease (CJD). Creutzfeldt-Jakob Disease (CJD)which will be discussed in this article.

In Creutzfeldt-Jakob disease (CJD), an abnormality in a protein causes progressive brain damage resulting in an accelerated decline in mental function and movement, leading to coma and death.

What is Creutzfeldt-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, affecting approximately one in a million people.

CJD usually appears late in life and is characterized by a very rapid progression of the disease.. Its first symptoms usually appear at the age of 60 and 90% of patients die within a year of diagnosis.

These first symptoms are:

• Memory lapses
• Behavioral changes
• Lack of coordination
• Visual disturbances

As the disease progresses, mental deterioration becomes very significant, and can lead to blindness, involuntary movements, weakness in the limbs and coma.

Creutzfeldt-Jakob disease (CJD) belongs to a family of diseases called transmissible spongiform encephalopathies (TSE). In these diseases infected brains have holes or holes only visible under a microscope.making its appearance similar to that of sponges.

Causes

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

This protein can present both in a normal and harmless form and in an infectious form, which causes the disease and causes the rest of the common proteins in the body to become infected. and causes the rest of the common proteins to fold in an abnormal way, affecting their ability to function.

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

Types of Creutzfeldt-Jakob disease

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

1. Sporadic CJD

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

2. Hereditary

It occurs in 5 to 10 percent of cases. They are people with a family history of the disease or with positive tests of 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 course of the disease

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

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

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

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

Diagnosis

At present, there is no conclusive diagnostic test for CJD, making its detection very difficult.

The first step in making an effective diagnosis is to rule out any other treatable form of dementia.For this purpose, a complete neurological examination is necessary. Other tests used to diagnose CJD include spinal tap and electroencephalogram (EEG).

Also, a computed tomography (CT) scan or magnetic resonance imaging (MRI) of the brain can be useful to rule out that symptoms are due to other problems such as brain tumors, and to identify common patterns in the brain degeneration of CJD.

Unfortunately, the only way to confirm CJD is by brain biopsy or autopsy. Because of its danger, this first procedure is not performed unless it is necessary to rule out any other treatable pathology. In addition, the risk of infection of these procedures makes them even more complicated to perform..

Treatment and prognosis

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

Currently, patients with CJD receive palliative treatments with the main objective of alleviating 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 palliate myoclonias.As for prognosis, the outlook for a person with CJD is quite grim. Within six months or less after the onset of symptoms, patients are unable to care for themselves.

Generally, the disorder becomes life-threatening in a few months, the disorder becomes fatal within a short period of time, approximately eight months, although a small proportion of people who survive thealthough a small proportion of people survive for up to one to two years.

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

How it is transmitted and ways to avoid it

The risk of transmission of CJD is extremely low; physicians who operate on brain or nerve tissue are most at risk.

The 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 with suspected or diagnosed CJD should not donate blood, tissues or organs.

As for the people who care for these patients, health care professionals and even funeral professionals should take a number of precautions when carrying out their work. Some of these are:

• Wash hands and exposed skin
• Cover cuts or abrasions with waterproof bandages
• Wearing surgical gloves when handling patient tissues and fluids
• Wear face protection and bed linen or other disposable clothing.
• Thoroughly clean instruments used in an operation or that have been in contact with the patient.