Huntington's disease is a lurking danger

Medical manuals give a very complex definition of the disease, which is called Huntington's disease. In order to understand the origins and features of this terrible pathology, it is first necessary to understand what each term used in its definition stands for.

The disease is hereditary, autosomal dominant. This means that the disease is genetically determined and is inherited from any parent with at least one mutated gene. The incidence of diseases among boys and girls is the same.

Huntington's disease is a chronic progressive disease. It is not treated, develops slowly, constantly increasing the symptoms, sometimes turning into a stage of exacerbation. The disease is always accompanied by a disturbance of the psyche, extrapyramidal disorders (motor impairment).

The pathogenesis of this disorder has been studied very poorly. However, it is known that in people with sickness there is often a deficiency of GABA (aminobutyric acid, which is the most important inhibitory neurotransmitter) in the brain cells. At the same time, in the cells of black matter, the amount of iron usually increases, there are sharp violations of dopamine metabolism. Some experts believe that the disease of Huntington's chorea is caused by the lengthening of the chain of amino acids. As a result, an "incorrect" protein is synthesized that breaks biochemical processes in the brain.

It is definitely established that the probability of the birth of a child with this disease in the family of carriers of the damaged gene is 1: 1 regardless of the sex of the child.

Symptoms of Huntington's chorea

Huntington's disease usually becomes noticeable by the age of 30 (sometimes later). First, there are intellectual disorders: narrowing of consciousness, "stuck" on one idea. People lose the ability to analyze the situation, draw conclusions.

Gradually, these disorders develop into deep dementia. At the patient the psyche is sharply impoverished, the intellect degrades, life experience disappears. Gradually the personal qualities of the patient are leveled.

In parallel, hyperkinetic disorders develop. Patients with a diagnosis of "Huntington's disease" begin to involuntarily perform many small movements, while losing the ability to produce simple actions. For example, walking is accompanied by grimacing, swinging hands, etc.

Huntington's disease is not the same. Sometimes, especially in the early stages, patients can suppress even strong hyperkinesis by an effort of will, and in other cases it can be extremely poorly expressed. Dementia always accompanies the disease, but the degree of its severity can be different. Sometimes patients, despite the steady degradation, long retain the core of their own personality, and sometimes lose it very quickly. What is connected with such features, medicine has not yet established.

Huntington's disease. Diagnosis and treatment

For the diagnosis, patients must undergo EEG, MRI. Usually, these studies record the atrophy of the cerebral cortex and a change in its electroactivity, and so-called indentation of the thalamus.

To diagnose doctors also examine cerebrospinal fluid, study the history of the disease in the family. Today, the method of preclinical diagnosis for families at risk is becoming more and more widespread. It consists in the study of the sensitivity of lymphocytes to x-ray irradiation. Children born in families where there is a carrier of the disease should be on medical records.

Huntington's disease is incurable. To facilitate the patient's condition, complexes of trifazine, reserpine, other dopamine antagonists and tranquilizers can be prescribed.