Medical guides provide a very complex definition of a disease called Huntington's disease. In order to understand the origins and features of this terrible pathology, you will first need to understand what each term used in its definition means.
The disease is considered hereditary, autosomal dominant. This means that the disease is genetically determined and inherited from any of the parents who have at least one mutated gene. The frequency of diseases among boys and girls is the same.
Huntington's disease is a chronically progressive disease. It is not treated, it develops slowly, constantly increasing symptoms, sometimes moving to the stage of exacerbation. The disease is always accompanied by a mental disorder, extrapyramidal disorders (motor disorders).
The pathogenesis of this disorder is very poorly studied. However, it is known that sick people often have a deficiency of GABA (aminobutyric acid, which is the most important inhibitory neurotransmitter) in brain cells. At the same time, the amount of iron usually increases in the cells of black matter, and there are sharp violations of dopamine metabolism. Some experts believe that Huntington's chorea disease is caused by lengthening the chain of amino acids. As a result of this, the “wrong” protein is synthesized, which disrupts the biochemical processes in the brain.
It has been reliably established that the probability of having a child with this disease in the family of carriers of the damaged gene is 1: 1, regardless of the gender of the child.
Huntington's Chorea Symptoms
Huntington's disease usually becomes noticeable by the age of 30 (sometimes later). First, intellectual disorders appear: narrowing of consciousness, “getting stuck” on one idea. People lose their ability to analyze the situation, draw conclusions.
Gradually, these disorders develop into deep dementia. The patient’s psyche is sharply impoverished, intellect is degrading, life experience disappears. Gradually, the patient’s personal qualities are leveled.
In parallel, hyperkinetic disorders develop. Patients with a diagnosis of Huntington's disease begin to involuntarily make many small movements, while losing the ability to perform simple actions. For example, walking is accompanied by grimacing, waving hands, etc.
Huntington's disease is not uniform. Sometimes, especially in the early stages, patients can suppress even severe hyperkinesis by force of will, and in other cases it can be expressed very weakly. Dementia always accompanies a disease, but its severity may vary. Sometimes patients, despite steady degradation, retain the core of their own personality for a long time, and sometimes lose it very quickly. What are the reasons for such features, medicine has not yet been established.
Huntington's disease. Diagnosis and treatment
For diagnosis, patients must undergo an EEG, MRI. Typically, these studies record atrophy of the cerebral cortex and a change in its electrical activity, and the so-called thalamus indentation is also noted.
To make a diagnosis, doctors also examine cerebrospinal fluid and study the history of the disease in the family. Today, the method of preclinical diagnosis is spreading more and more for families at risk. It consists in examining the sensitivity of lymphocytes to x-ray irradiation. Children born in families where there is a carrier of the disease must be registered with the medical community.
Huntington's disease is incurable. To alleviate the condition, the patient may be prescribed complexes of triftazine, reserpine, other dopamine antagonists and tranquilizers.