Huntington's chorea is a chronic hereditary progressive neurodegenerative disease, which is accompanied by mental and motor disorders. The main reason for the development of pathology is a defective gene, which contributes to the appearance in the nerve cells of a pathological protein that disrupts normal intracellular metabolism and leads to the appearance of biochemical abnormalities in the brain. Over time, the disease progresses, and its symptoms become more severe.
With a disease, an increased amount of gamma-aminobutyric acid accumulates in the brain cells, and the volume of iron increases in the cells of the skull nerves and the dopamine metabolism is disrupted.
Huntington's syndrome is transmitted from an ill parent who carries a poor-quality gene in an autosomal dominant manner. If one of the parents has chorea, the risk of a child's illness is fifty percent. The first symptoms of pathology appear at the age of 30-40 years.
The disease occurs in 3-7 cases per hundred thousand people among Europeans, among other nations, one in a million is sick.
Huntington's Chorea: Symptoms
At the very beginning of the disease, hyperkinesis characteristic of chorea, irregular, fast, erratic movements appear. If in the first stages, patients manage to suppress these manifestations by a willpower, then with the development of the ailment this ability weakens. Congenital and mental disorders usually begin to notice after a certain time after the onset of the disease.
With a disease, a person's intelligence decreases and dementia develops.
In the process of disease progression, patients experience great difficulties if they want to perform some purposeful movements. For example, when walking, a person performs excessive gestures, performs squats, grimaces, staggers while moving. Patients have difficulty speaking, muscle tone decreases, dementia gradually develops. A person cannot hold a pose for a long time (clench his fist, fix his gaze on the subject).
Endocrine and neurotrophic disorders can occur.
Huntington's chorea: diagnosis
The diagnosis is made on the basis of clinical symptoms and family history. In the process of research, diffuse and atrophic changes in the brain of the head are determined. In the diagnosis, chorea is separated from Alzheimer's, Parkinson's, syphilis, encephalitis, brain tumors that have similar symptoms.
Huntington's chorea: treatment
Today there are no treatment methods for the disease that would eliminate all manifestations of Huntington's syndrome or stop its progression. In most cases, symptomatic therapy is performed. To suppress hyperkinesis, patients take special medications.
When depression occurs, antidepressants and psychotherapy are prescribed. To alleviate the condition of patients, antipsychotic (antipsychotics) drugs, tranquilizers, sympathomimetics, antidepressants are prescribed.
The disease is complicated by infectious manifestations, aspiration pneumonia may occur .
The average life expectancy of people suffering from the disease is 15 years from the moment of detection of the first signs of the disease. Usually, with the manifestation of primary symptoms at an earlier age, the pathology progresses faster. So, if for the first time signs of the disease are noticed in patients under 20 years old, then their life expectancy does not exceed 8 years. Most often, death occurs from complications accompanying chorea. A fifth of patients commit suicide.