How manifests itself Huntington's chorea disease - who is more often than Huntington's chorea, photo and video pathology

About 7000 Americans suffer from this disease. In Europe, the frequency of the disease is 10: 100 000. It affects the disease of both men and women, depriving them of the opportunity to serve themselves, and significantly shortening their lives. She does not spare children at times.

What becomes the cause of its occurrence and whether it is treatable - everyone should know about this.

Definition disease

Huntington's chorea is an chronic disease of the nervous system , which slowly progresses and neis inherited.

The disease is characterized by mental disorders, increasing choreic hyperkinesis( unregulated involuntary movements that limit the motor activity of the patient), as well as dementia( dementia).

Chorea is a violation of the motor function, which manifests itself in the form of disorderly, gusty movements that can not be controlled by the patient. It can be like gestures with your hands, and mimic gestures, grotesque in its manifestation.

For the first time the disease was described in 1872 by the American psychiatrist George Huntington, whose name she was called.

Causes and at-risk groups

Huntington's chorea disease develops due to genetic disorder and has features:

• type of inheritance in Huntington's chorea is autosomal dominant: in a couple where there is at least one patient, in more than half of cases a child with chorea is born;
• if the disease is observed in the father, the progression of chorea in the child goes much faster;
• as a result of the disease is the death of neurons of the brain, which are responsible for the control and coordination of voluntary movements, as well as the regulation of muscle tone.

It has also been observed that men are more likely to suffer from Huntington's chorea.

The pathogenesis of

What sways the pathogenesis of Huntington's chorea, there are manifestations of the disease at the molecular level - this topic has not been sufficiently studied.

It is known only that Huntington's disease develops as a result of an increase in trinucleotide repeats-cytosine-adenine-guanine in the first exon of the gene.

Upon expansion, the polyglutamine region of the huntingthin protein, by changing its information, combines with other proteins. At the same time, their adhesion occurs, as a result of which protein-protein interactions are violated. All this leads to apoptosis( death) of cells.

There is atrophy of the brain , loss of control over the movements and muscle tone from the side of black matter responsible for these functions. Also affected are the basal ganglia, which control movement and behavior.

The symptomatology of the

pathology of Huntington's chorea is expressed by such symptoms:

• at the outset, there may be restlessness and fussy movements on the part of the patient, which are not regarded by his relatives as a sign of the disease;
• there are grimaces and involuntary facial expressions;
• muscle tone weakens;
• there are uncontrollable movements, expressed in sharp swings of hands and feet, twitching of the neck( all this resembles dance movements);
• gradually these manifestations progress, which leads to disability of the patient;
• in a dream, hyperkinesia disappear, but when stress or emotional stress develops;
• in children's form of the disease often there are convulsions;
• gait becomes dancing and swinging, accompanied by a nod of the head;
• observed memory impairment, recognition of persons and objects, dementia develops;
• speech due to hyperkinesis of the speech muscles becomes slow, accompanied by unnecessary sounds and movements( smacks, sighs);
• lost the ability to dress or eat alone;
• there is a quick temper, delusions, panic, inclinations to suicide, sometimes there is apathy;
• can increase bad habits - alcoholism, gambling and other;
• is often observed in hypersexuality;
• in the late stages of psychosis may occur, accompanied by visual and auditory hallucinations;
• complications of the disease are pneumonia, heart failure, which often lead to death;
• at first the patient can by force of will suppress symptoms of display of illness and independently move, but then the control function weakens.

Types of the disease

There are two types of chorea Huntington:

1. Classical chorea - symptoms begin to appear after 35 years, the disease can be transmitted from either parent and proceeds quite slowly. It also happens that because of late manifestation of the disease and its slow progression, relatives may not notice that a person is sick, since he can die for some other reason.
2. The Westphal version of is a less common form of the disease( approximately 7 to 10% of all cases).The optimal condition for its occurrence is a high content in the body of the gene that provokes Huntington's disease. As a rule, it is transmitted from the father, manifested up to 20 years( the so-called juvenile form).It is characterized by rapid progression.

The main forms of the disease

According to the forms, Huntington's chorea is classified by the following way:

• classical hyperkinetic - the clinical picture is expressed, mainly, by the manifestation of hyperkinesia( uncontrolled movements);
• akinetic-rigid( variant of Westphal) - mainly muscle tone is observed, while hyperkinesis is insignificant;
• mental - manifested in mental disorders( memory weakens, thinking slows down, often there is a short temper).

Neurochemical changes

During the neurochemical study of the brain in patients suffering from Huntington's chorea, it was found that the concentration of GABA( aminobutyric acid, which is responsible for the neurotransmitter and metabolic processes of the brain) in the striatum is significantly reduced.

Patients were found to have a decrease in choline acetyltransferase activity in the striatum, which may indicate the loss of cholinergic neurons. Though basically they are saved. The same applies to the substance P, which is located in the middle styloid neurons of the striatum.

At the same time, the level of glutamate increases with chorea, as does the synthesis of cholic acid.

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Diagnostic Techniques for

In order to diagnose Huntington's chorea, first performs an initial examination of the patient and assesses its neurological status. Based on the results of the study, an instrumental and laboratory examination is appointed, which includes the itself:

1. Computer tomography - assesses the state of the brain, making it possible to identify violations in it.
2. Magnetic resonance imaging - gives the same results as the previous method, and also helps to see the state of the myelin sheath of nerves and allows to exclude demyelinating( autoimmune) diseases.
3. Positron Emission Tomography - allows you to draw conclusions about the metabolic processes in the central nervous system( CNS).With the help of such a study, pathology can be detected even before the onset of manifestation.
4. Genetic study of .A blood test is performed, the patient's DNA is studied, which makes it possible to identify the disease.
5. Diagnosis before birth .The study of cells of the fetus located in the womb of the mother, for the purpose of genetic deviations.

Treatment of the disease

Ways of treating Huntington's chorea are not detected by modern medicine. All that doctors can do - is to reduce the incidence of and to prolong the patient's working capacity, preventing his disability.

How is Huntington's chorea disease manifested in children on photos

Therefore, at the first signs of the disease, you should immediately contact a neurologist for advice.

As for the medications used in this case, antidopaminergic drugs related to neuroleptics are used to reduce the severity of hyperkinesis.

They also have an antipsychotic effect.

Dementia in Huntington's disease

Against the background of chorea, usually develops dementia - a disease that manifests itself in the violation of intelligence. Features of this form of dementia are:

1. Slow progression of the disease, which is 10-15 years. In this case, the patient can serve himself, but loses his intellectual abilities.
2. The patient's attention has been disturbed, and his thinking is "jumping".
3. There is an inverse relationship between the development of dementia and the degree of severity of the mental disorder( delirium, persecution mania).

Rehabilitation for the detection of mild to moderate dementia usually employ employment therapy, trainings for the development of thinking. Also a big role is played by the support of those who look after the patient.

Forecast

On average, people suffering from Huntington's chorea live 45-55 years. In this case, death occurs after 10-15 years from the time when the disease manifested itself.

Usually the cause is not the disease itself, but its various complications, such as pneumonia, heart disease. Often, the cause of death of a patient is also suicide.

Prevention of disease

If a person in the genus has patients with chorea, requires the genetic analysis of for the presence of a defective gene. If it is found, then the carrier is contraindicated to have children in order to prevent their disease.

Because even if the heir of a sick parent does not suffer from the manifestations of this disease, then the risk of its development in a future child is 25%.

To prevent the same disease is not possible, since it laid down at the genetic level.

And the only way to prevent the development of chorea in your family is to abandon the idea of ​​having your own children if you have relatives in the family who suffer from this ailment.

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A detailed presentation on the theme of Huntington's chorea is a chronic disease that leads to dementia and dementia.