Huntington's chorea is an incurable genetic disorder that is manifested as a serious mental disorder.
What is chorea?
Huntington's disease, Huntington's disease - is an autosomal dominant, hereditary, chronic, progressive disease with extrapyramidal disorder of the nervous system and a mental disorder.
The essence of this genetic defect is the extension of a certain triplet code in the gene, which leads to the appearance of pathological protein in the nerve cells, followed by intracellular metabolic disorders and biochemical changes in the brain.
Huntington's chorus is transmitted from sick parents (carriers of mutation). The statistical relation between sick and healthy children in the family is 1: 1. The probability of giving to sons and daughters is the same.
The first symptoms of the disease are usually manifested after 30 years, so far people already have children, and the pathological gene can already be passed from generation to generation.
In more severe cases, an early onset of the disease is possible. The age of the debut can be predicted by the number of CAG repeats in the fourth chromosome (the more they are, the earlier the disease begins).
The fatal outcome comes more often from concomitant pathologies or suicide (20%) 10-20 years after the onset of the disease. The frequency of birth in a population varies from 3 to 10 cases per 100 thousand men.
Symptoms of Huntington's chorea disease
Key clinical manifestations of Huntington's chorea:
- Hyperkinesis (disorderly, fragmentary, "grotesque" movements that gradually cover all muscles);
- Seriously increasing changes in the psyche (reduction of attention, memory, suicidal thoughts, dementia, defeat of the emotional and intellectual sphere).
Chorea hyperkinesis also leads to speech impairment through clicks, dashes, nose scratches, grimace. In the early stages of the disease, short-term arbitrary suppression of hyperkinesis is possible. Muscle tone gradually decreases.
Treatment for Huntington's chorea
The diagnosis is based on clinical symptoms, family history, taking into account the data of computer and magnetic resonance imaging, which will show signs of atrophy of the brain, EEG will be visible diffuse changes. Analyzes of laboratory tests often remain in the norm. A differential diagnosis of Parkinson's disease, Wilson's disease, Sydenhem chorea, tumor, infectious and metabolic diseases of the brain is conducted.
Treatment that would stop the progression of the disease does not exist. To suppress hyperkinesis use neuroleptics. Depression shows psychotherapy and treatment with antidepressants. Emotional disturbances are trying to eliminate the methods of valproicacid.
There are interesting positive studies on the prospect of using csstatin for the protection of brain cells at Huntington's chorea, conducted by scientists led by Maria Borelli-Paigez (France).
Patients with Huntington's chorea need care. Emerging personality disorders may require the patient to stay in a hospital.