In a person who has heard the word “chorea” for the first time in his life, the first association can be with choreography, dancing. Indeed, the name of the disease comes from the Greek word “choreia”, which means dance, dance.
The movements of the patient resemble chaotic dance performances. They are caused by involuntary contractions of muscles of various parts of the body.
The etiology of diseases associated with choreic hyperkinesis is different. In this regard, it is customary to distinguish 3 types of chorea.
Huntington’s chorea (named after the researcher George Huntington who discovered it) belongs to this species. This is a rare disease characterized by a slow progressive course. It occurs on average in 5 cases per 100,000 people. It appears mainly in the age from 30 to 40 years and older, to a greater extent in men. The most pronounced motor disorders, mental disorders, intelligence, memory.
At the first stages, its signs cannot be found always. Over time, there is a twitching of the muscles of the face, a person begins to make involuntary swallowing, sucking movements. Uncoordinated eye movements, nystagmus, are noted. Hands are amazed, a symptom of fingers playing appears. The gait changes, it becomes impossible to maintain body position. The disease affects more and more muscle groups, gradually they not only begin to move randomly, but also become rigid. In the later stages, the person loses the ability to move independently.
Over time, attention worsens memory. A person loses the ability to analyze, to think logically, to solve even the simplest tasks, to concentrate. As the disease progresses, dementia develops.
Against the background of the inability to control movements, the awareness of the severity of the processes occurring in the body that are pathological in nature, apathy, a tendency to depression, and increased anxiety appear. Huntington’s disease is characterized by a flattening of emotions. Reduced critical thinking leads to bouts of rage, increased aggression. In some cases, a tendency to suicide.
The consequence of the defeat of the muscles of the face, nasopharynx is a violation of speech. It becomes blurred, slurred. A decrease in intelligence and memory leads to a decrease in vocabulary.
As part of other diseases
Chorea syndrome is found in other hereditary diseases associated with the lesion of the extrapyramidal system. This is a rare (1: 300 000) Lesch-Nihena syndrome associated with impaired uric acid content.
Another pathology is congenital Westfal-Wilson’s disease, which is based on a violation of the absorption of copper.
Chorea occurs as a result of injuries, vascular diseases, exposure to bacteria, viruses, intoxication, imbalance of metabolism.
The secondary diseases include rheumatic (small) chorea. Its occurrence is preceded by an exacerbation of rheumatism or streptococcal infections. The disease most often occurs in children and under the age of 20 years, more in girls.
At the initial stages, the child grimaces, disrupts eye movements, and simple uncontrollable gestures appear. Further other muscle groups are affected. With strongly pronounced manifestations of hyperkinesis, the child loses the ability to walk; he cannot eat or dress himself. The speech, intelligence, breath is broken. Reducing the brightness of symptoms with proper treatment takes place mainly after six months. Relapse is possible.
Reappearance is possible, in particular, during pregnancy. Associated with the formation of antibodies to phospholipids. Signs of illness occur in the third month. Manifested by hyperkinesis, muscle weakness, intoxication. The disease usually proceeds very hard. It is the basis for ending the pregnancy.
Regardless of the type of chorea, there is a lesion of the medulla oblongata, which is responsible for reflex motor activity, and also takes part in the performance of voluntary movements.
The medulla oblongata performs a number of functions:
- Reflex. Regulates breathing, muscle tone, oculomotor, protective reflexes. The latter, in particular, include swallowing, blinking, coughing, sneezing.
- Conductor. Here pass nerve impulses to the brain from the spinal cord and back.
- Integrative. The medulla oblongata is responsible for performing some complex functions, for example, regulating the position of the eyes while moving the head.
The defeat of the areas of the medulla oblongata leads to the violation of these functions.
A number of reasons lead to the disease.
Huntington’s chorea has a genetic basis. It is inherited by an autosomal dominant trait. The section of the short arm of the fourth chromosome, which is responsible for the production of the huntingtin protein, normally has 36 repeats of cytosine adenine-guanine trinucleotides. In some cases, pathological changes lead to an increase in repetitions to 121. The resulting abnormal protein structure leads to the death of brain neurons. The researchers noted the pattern – the more repetitions, the earlier the trochee will occur. At change of repetitions to 39 speak about the doubtful status.
Streptococcal infection, rheumatism, disorders of the immune system, craniocerebral injuries, vascular disorders, and intoxication lead to the development of secondary chorea. It is believed that the causes of the disease lie in metabolic disorders, systemic lupus erythematosus.
The age of the first manifestation of chorea symptoms depends on the form of the disease. In rheumatic chorea and juvenile form, symptoms occur in childhood and adolescence. When trophy Huntington they appear after 30 years.
The appearance of a grimace is noted, the patient involuntarily sticks out the tongue, frowns, makes strange sounds, sniffs. A little later, she starts nodding, waving her arms, swaying. A person loses the ability to hold his gaze on any object, he cannot maintain his posture. At the beginning of the development of pathology, he tries to refrain from involuntary actions, but later on he succeeds in doing it all with great difficulty.
A sign that attracts attention early enough is nystagmus.
Over time, the manifestations of hyperkinesis weaken, the tone increases. In this case, the sensitivity does not suffer.
Mental and emotional disorders occur. Patients become hot-tempered, emotional, and sometimes aggressive. In the later stages, hallucinations and thoughts of suicide are possible. Memory, critical thinking is disturbed, attention is reduced. Speech becomes slurred and unintelligible.
Symptoms of juvenile form are complemented by epileptic seizures.
The most reliable method is the method of polymerase chain reaction. To do this, blood is taken from a vein and the number of cytosine adenine-guanine trinucleotide repeats is counted during the study. DNA diagnostics is performed.
Among other methods, allowing to see violations of the medulla oblongata and signs of infections:
- magnetic resonance imaging;
- blood test;
On examination, the doctor uses provocative tests. In the course of one of them, the patient is asked to stand up so that the legs are together, and the arms are spread apart, with the palms facing down. The patient is asked to open and then close his eyes.
Another test is to ask the patient to lie down and stretch his arms.
Read also … Why tremor of the limbs and head appears: causes, types, diagnosis and prognosis of treatment
Huntington’s disease is not treated. If this pathology is diagnosed, symptomatic therapy is carried out. It helps to reduce the brightness of some manifestations, but is unable to stop the development of chorea. To reduce involuntary movements, improve coordination, alleviate the signs of mental disorders, antipsychotics are prescribed. In particular, it is Haloperidol, Sonapaks.
At the initial stages of chorea, the use of sedatives is shown (tinctures or tablets with extract of valerian, motherwort, Persen, Reserpine).
Antidepressants (Amitriptilin, Fluoxetine) will help reduce the manifestations of anxiety, apathy.
To reduce convulsive effects used drugs containing valproic acid, for example, Konvulex. Effective Phenobarbital.
At the same time, benzodiazepines, for example, Nimetazepam, Diazepam, have an anticonvulsant and sedative effect.
In the later stages, Levodopa and other anti-Parkinsonian symptoms are used to normalize muscle tone.
Therapeutic measures for rheumatic chorea, in addition, include antibiotics. They are aimed at preventing the re-development of the disease.
Currently there are no ways that could help stop the development of Huntington’s disease. The only way – knowing about the probable presence of the disease in relatives, it is necessary before the planning of pregnancy to do a DNA analysis to detect a genetic mutation.
Preventive measures aimed at preventing secondary pathologies include a healthy lifestyle, timely treatment of viral and bacteriological infections, and proper nutrition.
How long a person who has been diagnosed with chorea will live depends on the type of pathology. With mild chorea, the prognosis is generally favorable, depending on the timeliness of the treatment and how correctly it is selected. The emergence of complications of the respiratory and cardiovascular systems leads to serious consequences.
Rheumatic chorea in pregnant women can lead to death in a short time.
The prognosis in patients with chorea of Huntington is unfavorable. Fatal outcome occurs on average in fifteen years, with the juvenile form – in 10 years.
Some forms of trochee are treatable, the implementation of preventive measures will avoid recurrence. This group of diseases includes rheumatic chorea. It is not amenable to Huntington’s chorea. However, scientists conduct numerous studies and, perhaps, in the near future it will be possible to cope with this genetic pathology.
The following sources were used to prepare the article:
Seliverstov Yu. A., Klyushnikov S. A. Differential diagnosis of chorea // Journal Nervous Diseases – 2015.
Seliverstov Yu. A., Klyushnikov S. A. Current approaches to the medical correction of chorea in Huntington’s disease // Journal Nervous Diseases – 2014.