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

There are a number of diseases in the world, the percentage of affected people is very low. These are the so-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 resulting in an accelerated decrease in mental function and movement; reach the person in a coma and death.

What is Creutzfeldt-Jakob disease?

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

CJD usually appears in later stages of life and is characterized by a very rapid course. 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 errors
  • Behavior changes
  • Lack of coordination
  • visual disturbances

As the disease progresses, the mental deterioration becomes very severe and can lead to blindness, involuntary movements, limb weakness and coma.

Creutzfeldt-Jakob disease (CJD) is a family of diseases called transmissible spongiform encephalopathies (TSE). In these diseases infected brains have holes or holes that can only be seen under a microscope; making their appearance similar to that of sponges.

cause

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

This protein can be present both normally and harmlessly and infectiously, causing disease. and causes the rest of the common proteins to fold abnormally, affecting their ability to function.

When these abnormal proteins appear and bind together, they form fibers called plaques, which can start to build up 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 still does not have known risk factors for the disease. It manifests itself in 85% of cases.

2.hereditary

It occurs in 5 to 10 percent of cases. These are people with a family history of the disease or with positive evidence of an associated genetic mutation.

3. Acquired

There is no evidence that ECJ is contagious through occasional contact with a patient, but it is transmitted through exposure to the brain or tissues of the nervous system. It occurs in less than 1% of cases.

Symptoms and development of this disease

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

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

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

Although the symptoms of ECJ may appear similar to those of other neurodegenerative disorders such as Alzheimer’s or Huntington’s disease, ECJ causes a much faster deterioration in a person’s abilities and exhibits unique changes in tissue. cerebral palsy which can be seen after the autopsy.

diagnostic

As of yet, there is no conclusive diagnostic test for Creutzfeldt-Jakob disease, so its detection is getting really complicated.

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

In addition, computed tomography (CT) or magnetic resonance imaging (MRI) of the brain can be useful in ruling out that symptoms are due to other problems such as brain tumors, and in identifying common patterns of brain degeneration. .

Unfortunately, the only way to confirm CJD is with a brain biopsy or autopsy. Due to its danger, this first procedure is not carried out if it is not necessary to exclude any other treatable pathology. Outraged, the risk of infection from these procedures makes 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, patients with CJD are receiving palliative treatments with the main goal of relieving their symptoms and providing the patient with the best possible quality of life. In these cases, the use of opioid drugs, clonazepam, and sodium valproate can help reduce pain and relieve myoclonus. After six months or less, after the onset of symptoms, patients are unable to take care of themselves.

usually the disorder becomes fatal in a short time, in about eight months; although a small proportion of people survive for up to one or 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 the ECJ is extremely low; being the doctors who operate on the brain or nervous tissues, those who are most exposed to it.

This disease cannot be transmitted by air, nor by any contact with a person who suffers from it. however, direct or indirect contact with brain tissue and spinal fluid if there is a risk.

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

As for the people in charge of caring for these patients, health professionals and even funeral professionals must take a number of precautions when performing it. Some of them 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 instruments used in any procedure or which have come in contact with the patient

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