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Rare disease (orphan disease) - diseases that affect a small part of the population. To stimulate their research and create drugs for them (Orphan drugs) usually requires government support.
Many rare diseases are genetic and, therefore, accompany a person throughout his life, even if the symptoms do not appear immediately. Many rare diseases occur during childhood, and about 30% of children with rare diseases do not survive 5 years.
There is no uniform level of disease prevalence in a population to be considered rare. The disease may be considered rare in one part of the world or among a group of people, but is common in other regions.
Lata. This rare disease occurs only in some cultures (for example, in Malaysia), especially for some reason adult women are susceptible to it. Lata is characterized by the fact that the patient (s) loses control over his behavior, begins to imitate those around him, their speech and gestures and shout out rude or meaningless words. Usually this condition is a consequence of the psychological shock suffered, the person becomes restless and easily obeys suggestion. Thus, the patient can turn into a zombie, completely obeying orders from the outside. The patient can easily hit someone for no apparent reason, following extraneous suggestions.
Stendhal's syndrome. If a person is sick with this unusual disease, then when he gets into a place where a large number of art objects are located, he begins to experience not just anxiety, but dizziness, an increase in heart rate and even hallucinations. One of the most dangerous for patients with the syndrome is the Uffizi Gallery in Florence. Actually, it was on the basis of the symptoms of ailments of tourists in this place that the disease was described. It got its name from Stendhal, who described the symptoms of ailments in his book Naples and Florence: A Journey from Milan to Reggio, which described his own feelings from visiting the city in 1817. Despite multiple evidence, the syndrome was clearly described only in 1979 by the Italian psychiatrist Magherini, who examined more than 100 identical cases. The first scientific diagnosis of this kind was made in 1982, today this term is used to describe the reaction of people when listening to music of the era of Romanism.
Exploding head syndrome. People with this disease hear various noises in their heads and even explosions. This usually comes in a dream, two hours after falling asleep, or before him. Patients complain of anxiety accompanied by an increase in heart rate. Flashes of bright light in the head are also possible. All these sensations are quite painful, it seems to many that they have had a stroke. Someone characterizes the attack as the sound of cymbals, for someone it is a bomb explosion, and someone sees the sound of a string instrument. Doctors believe that these unusual sleep disorders, until recently little studied, are associated with stress and overexertion. Most of the patients are women, there have been cases of the disease in people younger than 10 years old, although the average age of patients is 58 years. Doctors believe the cause has nothing to do with epilepsy or hallucinations. The absence of the syndrome in many textbooks indicates not so much its rarity as about little information about the disease in general. There is no effective treatment, but there have been some improvements with clonazepam and clomipramine. Patients are advised to take up their daily routine, include walks, relaxation, yoga classes. This will help relieve stress and prevent symptoms.
The Capgras delusion. People with such disabilities believe that one of the close members of his family, most often a spouse, has been replaced by a clone. As a result, the patient categorically refuses to be near the "impostor", to sleep with him in the same bed. Doctors believe that this may be due to brain damage or drug overdose. There is also a version that this behavior occurs due to injuries to the right hemisphere of the brain.
Pica. People with cicero are forced to eat absolutely inedible things. As a result, glue, dirt, paper, clay, coal and other unappetizing substances enter the stomach. Scientists believe that this behavior is even somewhat justified - a person feels a lack of some trace elements or minerals in his body and subconsciously tries to fill this gap. Similar behavior is typical for animals, cats, for example, eat grass in pursuit of their goals. So, having felt the need to taste something unusual, it might be worth getting tested and find out the true reason for this behavior. The true cause of this disease has not yet been clarified.
Living corpse syndrome. Some people seriously believe that they have already died. This can be accompanied by depression and suicidal tendencies. People complain about the loss of everything in their life and even their own body. Patients feel like real corpses, the syndrome leads to the fact that they can even physically smell their rotting flesh and how worms eat them.
Vampire disease (porphyria). People with such deviations deliberately avoid the sun, it seems to them that from the sunlight their skin is covered with burns and blisters. The light brings them unbearable pain, the skin begins to "burn". In a patient with porphyria, pigment metabolism is disturbed, and in the skin, under the influence of sunlight, the breakdown of hemoglobin begins. The cover becomes brown, thinning and bursting. After ulcers and inflammations, scar tissue even damages the cartilage, that is, the nose and ears, which are deformed from this. The name of the disease appeared due to the similarity of symptoms with the properties of vampires. It is even possible that the very legends about bloodsucking monsters appeared thanks to patients with this unusual disease. So, the nails are deformed, which may later look like the claws of a predator. The skin around the gums and lips dries up, teeth are exposed, forming an unnatural grin. And the very behavior of the patient causes concern, during the day such people feel a lack of strength and lethargy, preferring to doze. But at night, in the absence of ultraviolet radiation, patients noticeably revive.
Heightened reflection. Patients with this disease react with strong fright to extraneous noise or object. An acute reaction is accompanied by screams, waving hands, this is especially manifested if someone sneaks up on people from behind. It takes patients much longer than usual to calm down. For the first time such manifestations were found in Maine in French Canadians, but then it turned out. That this syndrome is common all over the world. The reason for this behavior is sensitivity, determined by low self-esteem, heightened sensitivity and suspiciousness.
Blaszko lines. Some people may have strange streaks all over their bodies, which are named after the German dermatologist Alfred Blaschko. This inexplicable anatomical phenomenon was discovered by him in 1901. It turned out that the invisible pattern is embedded in the DNA. Many inherited and acquired diseases of the mucous membrane and skin arise precisely with the help of information from DNA. In this case, visible stripes are formed on the body, which are visible already at birth or are formed during the first months of life.
Alice in Wonderland Syndrome (Micropsia). This neurological disorder affects people's visual perception. Patients observe objects, people and animals much smaller than they are, moreover, the distances between them appear distorted. The disease is often referred to as "dwarf hallucinations" or "Lilliputian vision." Changes affect not only vision, but also hearing and touch, even your own body may seem different. The syndrome usually continues with closed eyes. Doctors note the connection, and perhaps the origin, of the disease with migraines. Micropsia can be caused by epilepsy as well as drug exposure. This effect can also occur in children between the ages of five and ten. Often, unusual sensations come with the arrival of darkness, when there is not enough information in the brain about the size of the surrounding objects.
Blue skin syndrome. People with this diagnosis have an unusual blue skin color, purple hues, indigo or plum colors are possible. There is a known case when in the 60s in Kentucky lived a whole family of such "blue" people known as Blue Fugates. This skin color did not prevent them from living in peace, some people lived to be 80 years old. This unique feature is passed down from generation to generation.
Werewolf syndrome (hypertrichosis) is characterized in patients by the presence of increased hair growth. The disease also occurs in young children, who have dark and long hair on their face. This disease is also called wolf syndrome, since such people very much resemble wolves in their cover, only claws and fangs are of course absent. This disease is quite rare, and its roots lie in genetic mutations. Not only men, but also women suffer from the disease. The syndrome gained fame in the 19th century, thanks to the performances in the circus of the artist Julia Pastrana, who showed a beard on her face and hair on her arms and legs. People with the disease often develop a wide flat nose, large mouth and ears, thick lips, and an enlarged jaw. The true causes of the onset of the disease became clear only recently, this was hampered by a small amount of information for study. But over 4 years of searching, Chinese scientists have found only 16 sick people among their multibillion-dollar population and found that the 17th chromosome carries a harmful mutation, and patients also lack a long DNA fragment with copies of genes. The chromosome is reorganized and reads the neighboring gene, which is precisely responsible for hair growth, as a result, the body begins to intensively produce the corresponding proteins, which give such an external effect.
Elephantiasis. This disease is characterized by hyper-enlarged body parts in patients. Elephantiasis, or lymphatic filaria, is spread by the larvae of parasitic worms. The vectors are mosquitoes. Such a disease is by no means uncommon; more than 120 million people worldwide suffer from it, and a third of them are in serious condition. When a person is bitten by an infected female mosquito, the larvae of the worm enter the bloodstream, which multiply in the human body after being there for several years. In the end, the parasites become a lot, they begin to infect the nearest tissues. The disease manifests itself as intense swelling and enlargement of places such as the legs, arms, chest, or genitals. Another variant of the disease is lymph congestion, which leads to the formation of edema. Treatment is usually conservative, inflammatory diseases are eradicated, and lymph drainage improves. Surgical intervention is used only in extreme cases. In 2007, scientists announced the decoding of the parasite's genome, which will help to more successfully fight the disease and carry out prevention.
Progeria. This disease is caused by the smallest malfunction in the genetic code of the child, and its consequences are terrible and inevitable. Almost all children with this diagnosis die prematurely, their average life expectancy is 13 years. Only one patient crossed the 27-year mark. The aging mechanism is much accelerated in their bodies, all the signs of a physically aged person quickly appear - early baldness, arthritis, heart disease. These symptoms appear by 2-3 years of age, the child's growth slows down sharply, the skin becomes thinner, the head increases sharply, while the supra-frontal part protrudes sharply above the small face. There are about 50 babies with this disease in the world. There is also progeria in adults, detected at the age of 30-40 years. Effective ways to combat the disease have not yet been found.
Klein-Levin syndrome. This neurological disease is also called the disease of the sleeping beauty. It is characterized by episodes of increased sleepiness and behavioral disturbances. Most of the day, patients simply sleep, waking up to eat and go to the toilet. Trying to bring them back to normal causes aggression. Usually people with this syndrome have confused consciousness, they are often unable to lead an independent life at all. Amnesia and hallucinations, rejection of noise and light are possible. In 75% of patients, there is a feeling of hunger without satiety. Sick men behave hypersexually, while women are more depressed. Usually the syndrome occurs at the age of 13-19 years, seizures occur every few months and last 2-3 days. The rest of the time people can lead a completely normal life. It is believed that by adulthood the disease passes, its true causes have not been established.