Synonyms in a broader sense
Medical: Myospasia impulsiva
- Gilles de la Tourette’s syndrome
- Tourette’s disease/disorder
- Generalized tic disease with motor and vocal tics
Tourette’s syndrome is a neurological-psychiatric disorder characterized by muscular (motor) and linguistic (vocal) tics, which do not necessarily occur simultaneously. Tourette’s syndrome is often associated with behavioural disorders. Tics are simple or complex, suddenly emerging, short-lived, involuntary or semi-autonomous movements or noises and sounds.
The incidence of Tourette’s syndrome in the general population is between 0.03% and 1.6%, although there are also studies with values between 0.4% and 3.8%. This suggests that the incidence of the disease varies between different populations. Tourette’s syndrome, for example, seems to occur significantly less frequently among African Americans and is hardly ever found in the sub-Saharan African population.
However, Tourette’s syndrome is found in all cultures, albeit with different frequencies. In general, however, it can be said that about 1% of all young people worldwide are affected. In Germany, it affects 0.2% – 1.5% of the total population, with men being affected three times more frequently than women.
History
The disease was first mentioned in medical literature in 1825 by Jean Itard, a French doctor and educator (1774-1838). He described the conspicuous behavior of the Marquise de Dampierre, who had had complex vocal tics since she was 7 years old, which included strange movements, strange sounds and often obscene utterances. Because of this behavior she had to withdraw from public life and died lonely at the age of 86.
The name Tourette’s syndrome goes back to the French neurologist George Gilles de la Tourette, who 60 years later published a study on the Marquise de Dampierre and eight other patients suffering from similar tics. The study was published under the title: “Étude sur une affection nerveuse caracterisée par l’incoordination motrice accompagnée d’écholalie et de coprolalie de la Neurologie, paris 9, 1885, 19-42 et 158-200” Dr. Tourette described the nerve disorder as the “Maledie des Tics. “Mozart and André Malraux are also said to have suffered from Tourette’s syndrome.
The cause of Tourette’s syndrome is not known. However, it is assumed that there are functional disorders in the area of the brain systems, such as the basal ganglia, which have the messenger substance (transmitter) dopamine. Transmitters are substances that serve to transmit signals in the brain and are excessively active in the case of Tourette’s syndrome.
The thesis is supported by the fact that opponents of dopamine (dopamine antagonists) reduce the tics, whereas substances that imitate the action of dopamine (dopamimetics) and thus increase the dopamine effect, as well as substances such as amphetamines, trigger tics. Furthermore, the number of docking sites (receptors) for dopamine (D2-receptor) corresponds to the degree of severity of the disease. In addition, disorders in the systems in which serotonin is present as a messenger substance are also assumed to be the cause.
It is also assumed that Tourette’s syndrome is a hereditary disease. In 60% of the patients, tics can be detected in family members, so there is a so-called “positive family history”. The hereditary process is probably dominant or even semi-dominant, i.e. only one parent must have the diseased gene for their child to also suffer from tics or Tourette’s syndrome.
A Tourette’s patient therefore inherits the diseased gene with a probability of 50%. However, the severity of the illness can vary greatly, so the illness does not necessarily have to have the full picture of Tourette’s syndrome, but can also contain only slight tics. For example, the expression depends on whether the diseased gene was inherited from the mother or the father (genomic imprinting).
In general, it can be said that women are affected less often and less severely than men. The exact gene location of the affected gene has not yet been found. Tics have also been observed when so-called nerve suppressants (neuroleptics) and drugs for epilepsy (antiepileptic drugs) are discontinued.
Symptoms are the already mentioned motor and vocal tics.This may include: Twitching of the neck and face, decreased control of impulses, compulsion to clear the throat, repeated emission of obscene and aggressive expressions (coprolalia), indecent movements such as masturbation movements (copraxia), repetition of sounds or words that have just been heard (echolalia), repetition of coordinated movements that have just been seen (echopraxia), and repetition of syllables (palilalia). Motor tics can be so pronounced that normal voluntary movements of the hands are impossible. About 10% of patients suffer from the so-called restless leg syndrome, which causes involuntary movements of the legs.
In addition, there are certain concomitant symptoms of Tourette’s syndrome, but these are not necessarily part of the clinical picture. These are non-fluent speech, hyperactivity disorder in childhood, attention deficit disorder, compulsive behavior such as counting or touching, self-destructive behavior such as deliberately hitting the head, or other behavioral abnormalities. Twitching in the neck and face area also includes twitching of the eyelids, but the causes are very diverse and cannot be caused exclusively by Tourette’s syndrome: Twitching eyelid – These are the causesFirst symptoms of Tourette’s syndrome usually occur between the 2nd and 15th year of life and rarely after the 20th year of life.
Motor tics are the initial symptoms; about 50% develop complex motor tics, i.e. tics involving several muscle regions, such as clapping. In up to 35% of cases echolalia and in 60% coprolalia occur. In many patients, the symptoms subside completely (remission) or at least improve considerably.
Often, patients with Tourette’s disease also have an obsessive-compulsive disorder or had an attention deficit and hyperactivity disorder as children. For a disorder to be diagnosed as Tourette’s syndrome, it must meet the following diagnostic criteria according to the Diagnostic and Statistical Manual of Mental Disorders (American Psychiatric Association 1987):
- Several motor and one or more vocal tics at a time during the course of the disease, but not necessarily simultaneously
- Multiple occurrence of tics during the day, practically every day or recurring over a period of more than a year
- Regular changes in the number, frequency and type of tics, as well as the body region in which they occur and the changing course of the symptoms
- Occurrence before the age of 21
Thus, coprolalia, copropraxia, echolalia, echopraxia and palilalia, which are probably the most noticeable and remarkable symptoms for the layperson, are not necessarily relevant for the diagnosis of Tourette’s syndrome. The diagnosis is made by questioning (anamnesis) the patient and observing the symptoms over a longer period of time so that the severity of the disease can be determined.
This is done using questionnaires and estimation scales that have been specially developed for the reliable diagnosis of Tourette’s syndrome. It is also important to assess the patient’s own and family medical history. However, there is no specific examination, neither laboratory nor imaging.
However, a measurement of the brain waves (electroencephalogram, EEG) and a method for producing virtual sectional images (single-photon emission computer tomography, SPECT) of the brain can be used to distinguish Tourette’s syndrome from other diseases. SPECT shows reduced binding of dopamine to the D2 receptors in advanced stages of the disease. If the cause is an autoimmune reaction, certain antibodies can be detected.
The motor tics, which are an integral part of Tourette’s syndrome, must be distinguished from rapid involuntary muscle twitches (myoclonia) and movement disorders (dystonia). Tics can be suppressed for a certain period of time, but myoclonies cannot be suppressed at all and dystonia can only be suppressed to a certain degree. In addition, tics are accompanied by a preceding paresthesia that triggers the actual movement.
This sensory component is the essential difference to other movement disorders. Genetic studies have proven a connection between Tourette’s syndrome, chronic tics and obsessive-compulsive disorders.This close connection between the diseases is important in therapy, since Tourette’s patients are often more severely affected by the psychiatric disorder than by motor or vocal tics. However, there are also patients who, over time, learn to handle their tics themselves and thus do not require psychotherapeutic or drug treatment.
However, it is always important to educate the social environment of the patient about the disease, so that the acceptance is greater and the isolation of the patients is prevented. The therapy of Tourette’s syndrome can only be carried out symptomatically, i.e. only the symptoms, i.e. the tics, are treated, but the cause is usually unexplained and cannot be treated.
Often a behavioral therapy is useful, in which the patient should learn how to master the tics in everyday life. For example, they become weaker when concentrating on a thing or an action, but become stronger under stress. Drug therapy is usually only used if the tics are so frightening to the environment that the patient is too restricted, or in the case of aggressive tics that are directed against the patient himself or other people.
The most effective tic-reducing drugs are neuroleptics such as haloperidol, pimozide and fluphenazine, whose effect is due to the influence of dopamine receptors. However, the benefits of the therapy must be weighed against the possible side effects of the drugs. The use of neuroleptics leads to fatigue and reduced motivation, which is particularly problematic in school children. In addition, neuroleptics carry the risk of a disturbance of movement coordination (dyskinesia), which is why they should only be prescribed in severe cases. Clonidine, tiapride and sulpiride have fewer side effects, but are not as effective.
