This is a collective term denoting a group of pathological conditions that affect nervous system and the whole complex of human behavioral reactions. Such disorders can develop as a result of failures in the metabolic processes occurring in the brain. In a broad sense, this expression is commonly understood as a state of the human psyche that differs from the generally accepted norm.
Download your mobile gadget. No doctor convinced her to keep her health. The conviction was so strong that the girl simply could not live a normal life: all her thoughts were overtaken by the disease. There was only one way - straight to the psychiatrist. Psychological illusions and delusions come in many forms and scales - from isolated episodes to severe forms. mental illness. But they all have one thing in common - the gap between reality and a distorted perception of the environment. A person who is overwhelmed by illusions does not believe in facts and does not listen to the voices of the mind.
Mental disorders
The resistance of an individual to mental disorders depends on the general development of his psyche and a complex of his specific physical characteristics.
Many of the mental disorders (especially those early stages development) may be invisible to the eyes of others, but, at the same time, significantly complicate the patient's life.
And mental disorders very varied. Here is some of them. Alice in Wonderland Syndrome is named after the novel by Lewis Carroll. The patient may see objects around him that are smaller or larger than they really are. Sometimes such visual images can be seen in childhood or before sleep, because the darkened brain receives fewer signals that describe the size of objects. In some cases, this syndrome causes migraines, which were also suffered by Lewis Carroll himself.
The writer probably used his experience to write this book. Cotard syndrome is also known as "walking death syndrome". This mental disorder is common in patients with schizophrenia. A person believes that he died a long time ago, simply does not exist or that he does not have internal organs. As a rule, such a patient loses a sense of reality and closes.
Causes of mental disorders
The factors that provoke the occurrence of mental disorders are very diverse, but all of them can be divided into two large categories: exogenous (this includes external influences, for example, trauma, infectious diseases, intoxication) and endogenous (this group includes hereditary, genetic diseases, chromosomal mutations, developmental disorders of the psyche).
Kapfor's Syndrome The patient suffering from this syndrome is firmly convinced that someone in his environment has been replaced by another twin who looks like him outside of him. The name of this syndrome is associated with the name of the psychiatrist Joseph Capgro, who called this syndrome "double illusion". Kapfar syndrome is often associated with schizophrenia, but may also occur due to brain damage or weakness.
Thought transmission It seems to the patient that his thoughts are being transmitted at a distance and become known to someone else. Sometimes it seems to him that something interferes with his thoughts. This false illusion often becomes a symptom of schizophrenia. Otelo Syndrome Hotel Syndrome or Jealousy is when a person sincerely believes that their partner is unfaithful despite good reasons. An anxious person is tormented by anxious thoughts, and this is not innocent jealousy: he can constantly check on his partner, follow him, steal where he was, and in difficult cases even cruelly.
The main causes of mental dysfunction:
Signs of a mental disorder
Such symptoms can cause a prolonged depressive state, interspersed with episodes of short-term bursts of affect.
Ekbomo. People with this disability usually seek help from a dermatologist or infectious disease specialist rather than a psychologist or psychotherapist. As a result of this syndrome, they believe that they have a twin who looks just like themselves, but they have a separate life and are characterized by special characteristics of the character. Sometimes a twin can be a stranger or family member.
In some cases, the patient may burst into tears and even use physical force because someone stole his appearance. Art that breaks free from social conventions treated mental illness as an acceptable part of human existence, which often enhanced creativity. In addition, the path to creativity is an unreasonable journey that did not go unnoticed by Greek philosophers. Plato stated that "madness is the gift of the gods" and poetic ecstasy is believed to be the only source of divine truth.
Classification of mental illness
According to the etiology (origin), all mental illnesses can be divided into two groups:
- Endogenous- the causes of the disease in these cases are internal factors; this includes genetic diseases, diseases with a hereditary predisposition.
- exogenous- the causative factors of these diseases are poisons, alcohol, traumatic brain injury, radiation, infections, stressful situations, psychological trauma. A variety of exogenous diseases are psychogenic diseases that occur as a result of emotional stress, or may be associated with social or family problems.
There are the following types of mental disorders:
Van Gogh would undoubtedly agree with the latter. So we start with a religious perspective on mental illness, with a painting by Carpaccio Vittore, "The Liberation of the Demonized Man in the Rialto." Vittore Carpaccio, Italian painter of the Venetian school. Photo by David Leese.
Essentially, the scene of everyday life in 15th-century Venice depicts the perception of diagnosing and treating diseases in the Middle Ages. It is often called "a mockery of the madman", but the concept of "demon" is more suited to modern religious perception. A man is miraculously viewed by a priest before the eyes of the people on the Rialto Bridge. The patient's pain is not related to medicine or psychology, but is a religious experience, a conflict with a demon that has taken the faithful.
Flow
Most often, mental illness occurs and debuts in childhood or adolescence. The main features of mental disorders in these cases:
Diagnostics
When diagnosing, it is imperative to examine the patient for the presence (absence) of somatic diseases. The presence of complaints characteristic of internal diseases in the absence of pathology from the internal organs will be one of the indirect signs of the presence of a mental illness.
A common theme for many artists of the Middle Ages was the incidents of the Bible, especially the life of St. Anthony's Germanic life and the temptation by demons. However, for Matthias Grunewald, with The Temptation of St. Anthony, martyrdom becomes more personal, symbolizing the psychological pain of a man with questionable manners. What's more, a merciful painting adorned the foundation wall for deformity patients, so the shape of the demons resembled mischievous thoughts. In addition, the demon is shown swollen and with gray skin, symbolizing illness.
Francisco Goya was influenced by the above work, and three centuries after the original painting created The Sleep of Logic Produces Monsters, where the sleeping human artist is attacked by the evil creatures of the night, nightmares implying that logic resides in all parts of the mind such as the subconscious .
A significant difficulty in treatment is the fact that a person suffering from a mental disorder is either not aware of it, or tends to deny his condition due to fear of treatment or due to stereotypes. Meanwhile, in the early stages of many mental disorders, treatment can provide significant improvement and cause a stable, long-term remission.
The illogical logic shown in the table is consistent with the end of the Enlightenment, a spiritual movement that tried to change the world through encyclopedias, scientific experiments, and the first factories. But it seems that the world of "madness" affected Goya in general, especially after he lost his hearing. "Funnel", already in the title, explains the table.
Francisco de Goya, Madness, detail. In fact, the stupidity of a person is presented when claims cease to be observed. The gathering of lunatics drains the nervousness and the patients become victims of daily accidents. Naked or ragged, the madmen are depicted in the moments of their "underground" life, in a strange allegory of people's everyday habits. In the so-called "black paintings", a series of paintings made on the walls of Koufos' mansion is found in the obsession of his "passion".
It is desirable to carry out therapy in conditions conducive to the psychological comfort of the patient.
- Psychotherapy aims to stop or at least alleviate the discomfort of the patient, felt by him in the form of unpleasant obsessive thoughts, fears, anxiety; helps in getting rid of unpleasant character traits. Psychotherapy can be carried out both individually with the patient and in a group (with relatives, or with other patients who have similar problems).
- Somatic therapy, features, pharmacotherapy, aims to influence the patient's well-being and behavioral characteristics, as well as eliminate unpleasant symptoms that cause him concern. Somatic therapy is now widely used in psychiatry, although the pathogenesis of some types of disorders is still not completely clear.
There are about 8,000 rare diseases identified by the European Committee of Experts on Rare Diseases (EUCERD). There is no single indicator of such ailments, because in different countries the number of patients may vary. But there are diseases and mental disorders that are distinguished by their unusualness, because they are caused by extremely rare factors. In this article, we will introduce precisely such ailments.
William decided to again depict a similar space to that exhibited by The Temptation of Saint Anthony. In particular, two mentally "healthy" women are depicted enjoying the spectacle with the patients of the famous medieval Bendlam Hospital in London. Hogarth's goal was to show that the boundaries between reason and paranoia are far from clear and well-defined.
Other artists were actively involved in the observation of mental illness, especially during the period of Romanticism, which dealt with extreme mental states and inner pain. For example, Théodore Géricault painted ten portraits of patients, clients of his doctor and friend, Dr. Etienne-Jean Georgette. The series is called Paralog Portraits, and today only half have been saved. The mood of the artist towards the suffering is visceral and respectful of the state. The interest in the whole exercise is found in the fact that mental illness is considered as part of the psychosynthesis of a person without prejudices and stereotypes.
alien hand syndrome
Alien hand syndrome is a complex neuropsychiatric disorder in which one or both upper limbs suddenly begin to function, regardless of the will of the person. In some cases, this syndrome is accompanied by epilepsy.
This neuropsychiatric disorder was first identified by the German neurologist Goldstein in 1909. He encountered in his practice with a patient who, during sleep, left hand started trying to choke her. No other abnormalities in the patient's psyche were identified, and subsequently the attack did not recur. After her death, an autopsy was performed, and the doctor found damage in the brain that caused an interruption in the transmission of signals between the hemispheres. It was this pathology that led to the development of alien hand syndrome.
Perhaps one of the most characteristic works that has had a significant impact on modern psychology is Albercht Dürer's engraving of Melancholia. Here we have both a diagnosis and a proof of a condition that is now recognized as a disease. Personalized melancholy was known in medieval times as a dark state of mind resulting from mental imbalance. This "darkness" is depicted on the frowning face of melancholy, which, with its geometric tools, is similar to geometric, architectural, mathematical, of course, with the Renaissance model.
According to doctors, the development of such a neuropsychiatric deviation is associated with the treatment of epilepsy, aneurysms and other diseases. Despite these conclusions, many mysticists still try to link the development of the "anarchist" hand syndrome with demonic possession.
zombie syndrome
Zombie syndrome (or Cotard syndrome) is a rare mental disorder, accompanied by the appearance of a delusion that the whole body or some part of it does not exist or has died. The patient may consider:
In addition, Dürer himself is an emblem of his personal life, implying the complex nature of the intellect. A shadow of melancholy cannot continue his wonderful work, because practically "the result of his desire to learn and create is to fall into despair." Misfortune is tender to the artist. It seems that this is also a creative approach, I will add.
Albrecht Dürer - Melancholy. Photo by Antonia Reeve. If there is a table that could express its message as aptly and comprehensively as a mathematical theorem, it would be Edvard Munch's The Scream. "It makes us feel today," he says. The desire to "cry" is not the result of human pathology, as in the Middle Ages, but from the existential agony of an alienated society, a logical reaction to an absurd world. The concept of mental illness is being redefined in the context of contemporary society.
- that part of the world or some people are no longer alive;
- that he is missing some organ;
- that his body has acquired enormous dimensions (“the size of the Universe”).
Some patients with zombie syndrome believe in their immortality, and almost all patients are suicidal. To test their immortality, they may attempt suicide or demand that they be killed.
Rembrandt's version is probably the most remarkable because it added political content to the table, as his death caused the Roman people to revolt, leading to the expulsion of the monarchy and the proclamation of a republic. To capture the essence of the scene, the artist focuses solely on his psychological aspects, eliminating any distraction. Therefore, she prefers to dress her, not to be naked, to exude eroticism. The dark background, the anguish on the face, and the deep red lines of blood create a sad scene with Caravaggio's influences.
The only safe conclusion to draw from the above cases is that art, like any other form of expression, does not distinguish between mentally ill and non-psychiatric patients. Maybe sometimes in favor of the former, helping them find their mental balance. This is evidenced by the collection of works by Dr. Hans Prinzhorn, the discovery of "outsider art".
Sometimes zombie syndrome is observed with schizophrenia, hallucinations, or depressive states. This mental disorder can be detected among people different ages but is more common in middle-aged people. His attacks occur suddenly, against the background of complete mental health. Before the first episode, there are signs of anxiety lasting several weeks or years. Sometimes only irritability is a precursor to the onset of a zombie attack.
So far, scientists do not give a clear answer about the reasons for the development of this rarely observed mental disorder. There are versions that it can be provoked by structural changes in the brain, toxic or metabolic disorders. But they are not supported by the data. computed tomography. Researchers from Japan suggest that beta-endorphins, which affect behavior regulation, hormonal secretion and pain perception, may be the cause of zombie syndrome. And scientists from the University of Cambridge are inclined to the version of the depressive nature of this mental disorder, because in the course of research, 100% of patients with this disease had psychotic depression.
synesthesia syndrome
Patients with synesthesia may perceive sounds as colors.Synesthesia refers to the unusual perception of sounds, colors, or smells that most people experience. People with this deviation literally see color in response to music or human speech, describe the color of the fragrance of a flower, and so on. There can be many reasons for such a deviation. Depending on them, this syndrome is divided into intoxication, traumatic, hypnopompic and hypnagogic (at the moment of transition from wakefulness to sleep and vice versa), etc.
The prevalence of synesthesia is about 4.4% of cases, and it is more often seen in creative or artistic people. Its most common variant can be considered the feeling of the days of the week in colors. And the composer A.N. Scriabin, for example, had "color hearing": he could distinguish colors in the notes of a musical scale.
In most cases, this syndrome does not affect the quality of life and does not manifest externally. The most common manifestations of it are the following phenomena:
- musical-color - music is perceived in the form of color spots, stripes, waves, etc.;
- phonemic-color - human speech is heard in the form of different colors;
- grapheme-color - letters are perceived in a certain color;
- phonemic-gustatory - individual words cause taste associations.
Synesthesia syndrome begins to manifest itself in early childhood and develops over the years. Society may treat such people differently. Some consider this a pathology, while others put unique people on a pedestal of unusualness and try to apply this syndrome in their work. For example, the car company Ford has created a position that requires the person holding it to "listen and smell cars."
Delusion Capgras
The delusion of Capgras (or the delusion of having a negative double) is a psychiatric syndrome in which the patient believes that he or someone from his relatives or acquaintances has been replaced by a double. At the same time, he attributes all the negative actions committed by the double to the double, and the positive ones to himself. Capgras delusion is often accompanied by signs of other psychiatric or neurological disorders (such as schizophrenia). In some cases, it is supplemented by other symptoms.
Delusion Fregoli
This syndrome is the exact opposite of the negative twin delusional syndrome described earlier in this article. If it is present, the patient is sure that the people around him are one of his acquaintances, who has disguised himself as them or knows how to change his appearance. The name "Fregoli delusion" comes from the name of a famous Italian actor who can quickly change his appearance during performances.
Amputephilia
Patients suffering from amputophilia experience obsessive thought that their limbs (upper or lower) are simply superfluous and need to be amputated. With the progression of such a violation of the perception of their body, they can independently perform such actions, making themselves disabled. To do this, the patient can injure himself, leading to paralysis of the limb, or amputate his arm or leg on his own. After performing the “operation”, they feel satisfied from the onset of the long-awaited harmony with their body.
Repetitive paramnesia
Patients with repetitive paramnesia are sure that an existing place or institution in one city (or other geographical object) exists in another. At the same time, they certainly need to get to an imaginary “twin” place. For example, while undergoing treatment in a hospital on Veteranov Street in the city of Volgograd, the patient is sure that the same street and clinic exist in Moscow or Barnaul. At the same time, for some inexplicable reason, he needs to get there.
Androphobia
This phobia consists in the development of fear of men, which occurs against the background of psychological trauma received in childhood. Androphobia is treatable, but only in cases where the person suffering from it himself recognizes the need for therapy. This mental disorder has nothing to do with feminism (a political movement), as some relatives of the patient believe. With androphobia, the representative of the weaker sex has certain symptoms, and with feminism, the behavior of a woman depends on her social tasks performed to achieve political goals.
The reason for the development of this mental deviation may be episodes of assault by male relatives, violence or disrespect towards the mother observed by the girl, sexual harassment, etc. The same mental deviations can also be observed in boys who subsequently reject any manifestations of male brutality .
In some cases, the reason for the development of such a phobia lies in the unsuccessful first sexual experience of a girl who is faced with infidelity, violence or betrayal. In especially impressionable representatives of the weaker sex, androphobia can even be provoked by watching or reading films or news with scenes of rudeness and violence.
The fear of men is accompanied by the following symptoms that occur upon contact with them:
- redness or blanching of the skin;
- (up to vomiting);
- profuse sweating;
- urge to defecate or urinate.
Psychological techniques and psychotropic drugs can be used to treat this mental disorder. The choice of therapy tactics depends on each clinical case, but most doctors are inclined to believe that it is psychotherapeutic treatment that is more effective.
Lim syndrome
Lim's syndrome manifests itself at the moments of hostage-taking by terrorists and is expressed in the appearance in the process of communication of both parties of sympathy for the captured people on the part of the rapists. As a result, the invaders are so imbued with sympathy that they let people go.
Lima syndrome was first observed at the Peruvian Embassy in Japan, when terrorists from the Tupac Amaru Revolutionary Movement captured hundreds of people participating in a reception taking place at the ambassador's residence. The prisoners included diplomats, military officers of high ranks and businessmen from different countries.
Events unfolded over many days: from December 17, 1996 to April 22, 1997. Two weeks after the start of the seizure, the terrorists released 220 hostages. They held the remaining captives for another 4 months and conducted unsuccessful negotiations. As a result, the captured people were released and only one of them was killed during this process.
Against the background of Lim's syndrome, the opposite syndrome, Stockholm syndrome, is often observed. After the release of the captives in Japan, some of those captured expressed the opinion that the head of the terrorists, previously characterized as a very cruel person, made only a favorable impression on them. They described him as polite, dedicated and educated.
Prosopagnosia
Prosopagnosia refers to a mental disorder in which there is a violation of the perception of people's faces, but the recognition of objects remains preserved. This pathology can be congenital or acquired.
Cases of prosopagnosia have been known since the 9th century, but the term itself was introduced into the practice of doctors by the German neurologist Bodamer only in 1947. He described the symptoms of a military man who received a bullet wound in the head and stopped recognizing previously familiar people and his reflection in the mirror. At the same time, he retained other sensory senses: hearing, tactile sensations and visual memory for the gait and manners of movement of relatives and relatives.
Depending on the severity, the symptoms of prosopagnosia can be expressed in the following disorders:
- visual non-recognition of previously familiar faces;
- inability to distinguish women's faces from men's;
- inability to see facial expressions;
- the use of workarounds to recognize others (recognition by voice, hairstyle, gait, the smell of your favorite perfume, etc.);
- impaired recognition of birds and animals;
- the impossibility of recognizing oneself in one's own mirror image or in a photograph.
The severity and variability of the above signs of this mental disorder are associated with the severity of the clinical case. With a mild course, recognition impairment is present only when viewing photographs or films, and in severe cases, the patient is not able to recognize his own face.
Prosopagnosia can be caused by:
- the presence of injuries or in its lower occipital region;
Trichotillomania
Trichotillomania is characterized by the compulsive and often repetitive pulling out of one's own body or head hair. At the same time, their pronounced loss is observed from the outside. To perform such actions, the patient may use his nails, tweezers, needles, or other mechanical devices.
More often, hair pulling is performed in the head area: the scalp, eyelashes, eyebrows, mustache, beard, nostrils or ear canal. In more rare cases, hair is removed in the chest, upper and lower extremities, pubic or perirectal region.
The process of destroying hair is often accompanied by a strong and intense desire to perform such an action, and after the result achieved, the person experiences relief. Usually the patient pulls out his hair when no one sees him or during activities that occupy him so much that he does not think that people around him can notice him (while talking on the phone, watching an interesting movie, etc.). Sometimes trichotillomania is accompanied by eating hair - trichophagia.
With this mental disorder, the patient is well aware that his actions are abnormal. They try to hide the fact that they have no hair and may wear a hat, tattoo their eyebrows, put on false eyelashes, etc. to do this.
For the treatment of trichotillomania, various methods of psychotherapy are used: individual, group, hypnosis, cognitive-behavioral psychotherapy. The therapy program is compiled individually for each patient and depends not only on the severity of the mental disorder and its causes, but also on personal characteristics.
group craziness
Group insanity, or, as this syndrome was previously called, shared mental illness, manifests itself in the transmission of a mental disorder from one person to another. The syndrome was first described by French psychiatrist Charles Lasegue in the 9th century. In most cases, the disease occurs in two people (usually a married couple), but episodes of this mental pathology can be detected among a larger number of people. Group insanity may occur first in one patient and then be transmitted to another or others. However, there are also cases of independent madness occurring at the same time in several patients at once.
One of the most famous cases of this syndrome is the married couple of actor Randy Quaid and Evy Motolanez. They saw themselves as Hollywood refugees fleeing a gang of Hollywood star hunters. The actor's wife was sure that representatives of organized crime were trying to kill her and her husband. Randy Quaid echoed his wife and stated that the gang, which he calls "cancer", is trying to follow their every move.
Genital retraction syndrome
Genital retraction syndrome is a mental disorder that is accompanied by the sensation that in men the penis or the breasts in women are retracted into the body. At the same time, a sick person is sure that full retraction will lead to death. The unusualness of this mental illness lies in the fact that it is observed only among the inhabitants of Southeast Asia. So far, scientists have not found an explanation for the occurrence of this syndrome.
This mental disorder causes patients to begin to carry out manipulations that, in their opinion, can prevent the retraction of the genitals. They use various tricks for this - tying weights, gluing with tape, refusing to sleep, etc. In some cases, the syndrome becomes the subject of a local epidemic - the whole village is afraid that the penises will retract and the men will die. After a period of time, the symptoms of the disorder disappear on their own.
fatal familial insomnia
Fatal familial insomnia is a hereditary disease and is inherited. That is why this disease is called familial. This pathology was described by the writer Jorge Luis Borges in his work One Hundred Years of Solitude.
This disorder is one of the most severe and debilitating diseases. It is caused by a mutation in the PRNP gene, which leads to a change in protein molecules that, when colliding, form a sticky substance in the part of the brain responsible for sleep. Because of this, a person develops insomnia, which is not treatable and progresses over time. As a result, after 12-16 months, nervous exhaustion leads to death.
Kleine-Levin syndrome
Sleeping beauty syndrome is characterized by excessive sleepiness, which is replaced by an acute feeling of hunger. Kleine-Levin syndrome (or Sleeping Beauty syndrome) is a rare neurological disorder that is accompanied by severe bouts of drowsiness, followed by a sharp feeling of hunger and nervous breakdowns. The reasons for the development of such a disease are not fully established. Some scientists suggest that the disease is provoked by malfunctions in the hormonal system, while others are sure of its genetic nature, since the disease is often inherited. In addition to these two versions, acute lesions of the hypothalamus that have not yet been fully studied can become the cause of the development of Kleine-Levin syndrome.
Mari, the 19-year-old heroine of Haruki Murakami's novel After Darkness, tells her interlocutor about her sister Eri, who sleeps all the time, waking up only to eat. It turns out that writers often describe rare diseases to give expression to one or another of his ideas.
Symptoms of pathology are expressed in the appearance of an episode of sudden drowsiness. The patient can sleep for about 20 hours. After waking up, he begins an attack of gluttony, in which he does not pay much attention to the quality of food and does not feel its taste well. Such manifestations of the disease have their own periodicity.
In most cases, the syndrome occurs among adolescent boys. After 20 years, it usually disappears on its own or the period of remission of the disease stabilizes significantly. Doctors do not recommend treating this rare disorder, because the disease can heal itself, and the patient during periods of exacerbation needs only the support of loved ones.
Congenital insensitivity to pain
The innate inability to feel pain is a genetic disease. It is caused by a mutation on chromosome 1 (1q21-q22), which encodes a receptor that plays a key role in the regulation of pain.
The main symptoms of congenital insensitivity to pain are expressed in the following signs:
- congenital absence of pain reaction arising from habitual factors;
- tendency to self-harm;
- as an exception, late psychomotor development is noted;
- violations of thermoregulation;
- fever of unknown origin;
- lack of sweat response to heat, pain, emotional or chemical factors;
- episodes.
In patients suffering from this rare congenital disease, the diagnosis of other pathologies is extremely difficult, because they do not feel pain. It is this fact that can become the cause of their death. About 100 patients with this rare driving pathology are registered in the world.
Fibrodysplasia ossificans, progressive
Fibrodysplasia ossificans progressive is an extremely rare disease that is accompanied by ossification of the tendons, fascia and connective tissue areas of the muscles. It proceeds in the form of outbreaks, accompanied by swelling of an inflammatory nature in soft tissues skeleton, and periods of remission. Subsequently, the affected tissues are transformed into cartilage, and then into bone tissue. Such changes occur in the following sequence: back and neck muscles, shoulders, hips. Only smooth muscles and myocardium do not give in to changes.
The causes of this rare disease are not yet fully understood by scientists. There is a version about the possible genetic origin of the disease, since there have been many cases (about 75%) when the disease was inherited. In 2006, scientists from Pennsylvania discovered a gene whose mutation can provoke this disease. Later, they were able to identify the location of the gene on chromosome 2q23-24.
There is no effective therapy for this rare disease yet, but doctors have learned how to use drugs to slow the progression of fibrodysplasia. For this, the drug Interferon is used. Scientists see promise in gene therapy for this rare, deadly disease. Since 2014, they have been conducting clinical trials of the drug Palovaroten, which can block a gene mutation.