Tourette syndrome - Causes, symptoms and treatment. MF.

Tourette's syndrome is a neurological disorder with a genetic predisposition that manifests itself in early childhood or in adolescence under the age of 18.Tourette's syndrome is determined by the presence of several motor tics and one mechanical or vocal tic, the duration of which should be more than a year. The first symptoms are usually involuntary movements( tick) of the face, hands, legs or torso. These tics are frequent, repetitive and rapid. The most common is the symptom of facial tics( eye blinking, nose twitching, grimace), and other additional tics of the neck, trunk and extremities are possible.

The first case of Tourette's syndrome was recorded in 1825 by Dr. Itard. He described a pathology similar to the syndrome, from the rather famous Marquise de Dampierre - the French courtier, who was remembered for the world by the presence of multiple motor and vocal tics. In 1885, the French neurologist Georges Gilles De la Tourette, on the instructions of his teacher, the famous French neurologist Charcot, observed in his hospital nine patients with similar symptoms, which he systematized into one disease, describing it in his writings. Later, the syndrome began to bear his name. Previously, people with this disease were called demoniacs. Of the most famous famous people - football player David Beckham suffers from a mild degree of Tourette's syndrome in the form of coprolalia( screaming abusive words without reason).

Among patients with the syndrome, psychiatric disorders are more common: schizophrenia, obsessive-compulsive disorder, panic attacks.

Causes of Tourette's

Syndrome Tourette's syndrome is a polygenic disorder, for a mild degree of syndrome a combination of twenty genes is necessary. If the combination of genes increases, the course of the disease can become more complicated. Research data from individual families show that Tourette's syndrome is a hereditary disease with a presumably autosomal recessive type of inheritance. Later studies suggested an autosomal dominant type of inheritance( an autosomal dominant disease in which only one copy of the defective gene is inherited from one of the parents).Studies in different racial and territorial populations indicate that the inheritance mechanism is much more complex than previously thought.

Symptoms of Tourette's syndrome

The main manifestation of the disease is a tick. Tics are involuntary( beyond the control of the patient), rapid, repetitive and stereotyped( identical) movements of individual muscle groups. Various symptoms can be divided into motor, vocal and behavioral.

The motor tics appear suddenly, quickly and senselessly. They can be uncomfortable or even painful for the patient. They easily differ from simple muscle twitching, for example, the eyelids or lips. The motor tick can manifest itself in the form of various movements that a person can produce: jumping, clapping hands, tension of the arms or muscles of the neck, involuntary touches of people or objects, obscene gestures. At some point, complex tics of motor character can acquire a ritual character. The patient begins to do, and then repeat or cancel the same actions a certain number of times( for example: pull the hand ten times before starting to write anything).These complications of symptoms are accompanied by considerable internal discomfort of the patient. Motor tics greatly impair the working or learning conditions of a person.

Motor tick in a patient with Tourette's syndrome

Vocal tics are more extensive in structure than motor tics. Patients begin to reproduce linguistically meaningless sounds or noises, such as hissing, coughing or barking. Vocal symptoms can interfere with an unhindered flow of speech and resemble stuttering or other defects. Often, but not always, vocal symptoms occur at the points of a language transition, for example, at the beginning of a sentence, where the main part of the meaning may be, or at the beginning of a word or phrase. Patients can suddenly change the volume of speech information, omit the necessary phrases or focus on words or phrases.

The vocal symptom - coprolalia, explosive utterance of profanity or more complex sexual, aggressive or offensive statements causes the greatest social alarm. These are not just words expressed in anger or resentment, it is a sudden speech unintelligible impulse. As a rule, patients voice only the first syllable, an inappropriate word, and then goes the rest of the information that the person wanted to voice. While coprolalia occurs only in a small number of patients from 5 to 30%, it remains the most famous of all the symptoms of Tourette's syndrome.

Some patients with the syndrome tend to unconsciously imitate what they just saw, heard or said. These phenomena are called echopraxia, echolalia and palylalia. For example, a patient may feel the impulse to imitate the movements of the body of the person with whom he is talking, or try to reproduce the speaker's speech. Some patients describe the occurrence of "triggers", the so-called signs, which tell them about the beginning of a tick, for example the coughing of another person.

Diagnosis of Tourette's syndrome

Tourette's syndrome is prescribed if the doctor has recorded motor or vocal ticks that have not ceased throughout the year. The presence of other mental or neurological disorders, including the presence in childhood of involuntary motor disorders, such as dystonia, or mental disorders, such as repetitive motions.

There are no special diagnostic systems or laboratory tests that can accurately detect the syndrome. But some of the studies that you may have to offer may exclude a concomitant pathology that may give the same symptoms as Tourette's syndrome. Computer tomography( CT), an electroencephalogram( EEG), as well as magnetic resonance imaging( MRI), or biochemical blood tests can exclude a neurological pathology that occurs again.

Very often, the diagnosis is made on the basis of a family history, when one of the relatives suffers from this disease. Many patients independently diagnose themselves with the disease after they detect characteristic symptoms. If you have noticed the above symptoms and less pronounced manifestations, such as diminished attention, perseverance, unmotivated and uncontrolled actions, which the person himself can not explain, you need to urgently contact a psycho-neurologist or a neurologist.

Treatment of Tourette's syndrome

Because the symptoms of Tourette's syndrome do not often cause any organic disorders, many patients do not need medical treatment. Nevertheless, there are effective medicines for those people whose symptoms cause severe discomfort in their work and everyday life.

A group of antipsychotics is most available and effective for suppressing motor tics. One of the most famous representatives of this group is haloperidol. But, unfortunately, there is not a single drug that would be so effective as to completely remove all manifestations of the disease. Most neuroleptics are happy with side effects, for effective treatment it is necessary to slowly reduce the initial dose when unwanted effects appear. The most common side effect of neuroleptics is sedation, weight gain, dulling of cognitive reactions. Other neurological symptoms, such as tremors, dystonic reactions, parkinsonism-like symptoms and dyskinesias are less common and are easily controlled by dose reduction. Stopping the use of neuroleptic drugs should be slow, so that the withdrawal syndrome does not develop( a sharp increase and intensification of all previously manifested symptoms of the disease).

Other drugs may also be effective in reducing the severity of the disease, but most of them are not well understood and are not as effective as antipsychotics. These include drugs from the group of alpha-adrenomimetics, representatives are clonidine and guanfacine. These drugs are used in programs for the treatment of hypertension, but also in the treatment of tics. Distribution of these drugs were obtained because of the lack of sedation.

Some of the drugs that are used with success for the treatment of other psycho-neurological disorders have a pronounced curative effect on patients with Tourette's syndrome. Recent studies have shown that stimulant medications such as Ritalin and dextroamphetamine can reduce the symptoms of the disease, without side effects. It should be noted that this group of drugs is banned in the Russian Federation and applies to treatment only in some countries( USA, Canada and European countries).

To treat obsessive-compulsive conditions that severely disrupt the patient's daily condition, drugs from the serotonin reuptake inhibitor group( fluoxetine, fluvoxamine, clomipramine, paroxetine and sertraline) are used that have proved effective in many patients.

Psychological problems are not part of Tourette's syndrome, but they can arise as a result of complex adaptation of people. Psychotherapy can help a patient with Tourette's syndrome to cope more effectively with the disorders that arise in the process of social adaptation.

Forecast for Treating Tourette's Syndrome

Although there is no cure that could fully cure this disease, many people's condition improves significantly in late adolescence and in later adulthood. As a result, many of the patients will not need to use drugs to suppress tics. Tourette's syndrome, although it is a chronic lifelong disease, but does not cause any degenerative processes during a person's life, and there are no threats to the lives of these people. Patients with Tourette's syndrome live as long in duration as ordinary people, and there is no deterioration in intelligence.

It is very important to provide all support to patients. Even though symptoms may decrease with age, the risk of developing neurobehavioral disorders such as panic attacks, depression, mood swings and antisocial behavior may persist and lead to worsening already in adulthood.

Doctor therapist Zhumagaziev E.N.