Rare diseases (English rare disease, orphan disease) – diseases affecting a small part of the population. To stimulate their research and create medicines for them (Orphan drugs) usually require support from the state.
Many rare diseases are genetic, and therefore accompany a person throughout life, even if the symptoms do not manifest immediately. Many rare diseases occur in childhood, and about 30% of children with rare diseases do not survive 5 years.
There is no uniform level of prevalence in the population to be considered rare. The disease can be considered rare in one part of the world or among a group of people, but be spread in other regions.
This rare disease occurs only in some cultures (for example, in Malaysia), especially for some reason, it affects adult women. Lat is characterized by the fact that the patient (ly) loses control over his behavior, begins to imitate the people around them, their speeches and gestures and shout out coarse or meaningless words. Usually such a condition is a consequence of a psychological shock, a person becomes restless and easily submits to suggestion. Thus, the patient can turn into a zombie, fully obeying orders from the outside. The patient can easily hit someone for no apparent reason, following extraneous suggestions.
Syndrome of Stendhal.
If a person is sick with this unusual disease, when he hits a place where a large number of art objects are located, he begins to experience not just excitement but dizziness, increased 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 symptoms of the ailments of tourists in this place that the disease was described. The name was given to Stendhal, who described the signs of discomfort in his book “Naples and Florence: The Journey from Milan to Reggio”, which described his own feelings of visiting the city in 1817. Despite the multiple evidence, the syndrome was clearly described only in 1979 by the Italian psychiatrist Maharini, who examined more than 100 identical cases. The first scientific diagnosis of this kind was made in 1982, today this term is also used to describe the reaction of people when listening to the music of the era of Romanism.
Syndrome of an exploding head.
People with this disease hear different noises in their heads and even explosions. Usually it comes in a dream, two hours after falling asleep, or in front of it. Patients complain of anxiety, accompanied by an increase in heart rate. Possible flash of bright light in the head. All these sensations are quite painful, it seems to many that they have had a stroke. Someone characterizes the attack, like the sound of cymbals, for someone it’s a bomb explosion, and someone seems to hear the sound of a stringed instrument. Doctors believe that such unusual sleep disorders, until recently, little studied, are associated with stress and overexertion. The majority of patients are women, there have been incidences of disease in people under 10 years old, although the average age of patients is 58 years. Doctors believe that the reason has nothing to do with epilepsy or hallucinations. The absence of a syndrome in many textbooks testifies not so much to its rarity as to the small information about the disease in general. There is no effective treatment, but there are some improvements with clonazepam and clomipramine. Patients are encouraged to do their daily routine, include walks, relaxation, yoga. This will help relieve stress and prevent symptoms.
People with such deviations believe that someone from close family members, most often a spouse or a spouse, is replaced by a clone. As a result, the patient categorically refuses to be near the “impostor”, sleeping with him in the same bed.Doctors believe that this may be a consequence of brain damage or overdose of medicines. There is also a version that such behavior arises from traumas of the right hemisphere of the brain.
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 justified in something – a person feels in his body a lack of some trace elements or minerals and subconsciously tries to fill this gap. Similar behavior is typical of animals, cats, for example, eat grass, pursuing their goals. So, having felt the need to taste something unusual, it is probably worth to pass the tests and find out the true reason for this behavior. The true cause of such a disease has not yet been ascertained. Syndrome of a living corpse.
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 lives and even their own bodies. The sick feel like the most real corpses, the syndrome leads to the fact that they can even physically smell their rotting flesh and how they are eaten by worms. Vampire disease (porphyria).
People with such deviations specifically avoid the sun, it seems to them that from the sunlight their skin is covered with burns and blisters. Light brings them unbearable pain, the skin begins to “burn.” In a patient with porphyria, the pigment metabolism is disturbed, and in the skin, the decomposition of hemoglobin begins under the influence of sunlight. The cover acquires a brown tinge, thinner and bursting. After ulcers and inflammations, scar tissue damages even the cartilage, that is, the nose and ears, which are deformed from it. The name of the disease appeared due to the similarity of symptoms with the properties of vampires. It is even possible that the very traditions of the monsters-bloodsuckers appeared thanks to the patients with this unusual disease. So, deformed and nails, which can later look like the claws of a predator. The skin around the gums and lips dries out, teeth are exposed, forming an unnatural grin. And the very behavior of the patient raises fear, during the day such people feel a decline of strength and lethargy, preferring to doze. But at night, in the absence of ultraviolet light, patients noticeably brightened up.
Patients with this disease react violently to extraneous noise or object. An acute reaction is accompanied by cries, swings of the hands, especially when someone creeps up from behind. In order to calm down, patients need much more time than usual. For the first time such manifestations were discovered in Maine by Canadians of French origin, but then it turned out. That such a syndrome is spread all over the world. The reason for this behavior is sensitivity, determined by low self-esteem, heightened sensitivity and suspiciousness.
Lines of Blaschko.
Some people around the body may have strange strips that have their name in honor of the German dermatologist Alfred Blaschko. This unexplained anatomical phenomenon was discovered by him in 1901. It turned out that the invisible figure was laid 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, the body forms visible bands that are visible at birth or formed during the first months of life. Syndrome of Alice in Wonderland (microsy).
This neurological disorder affects the visual perception of people. Patients observe objects, people and animals much smaller than they are, moreover, the distances between them appear distorted. The disease is often called “dwarf hallucinations” or “Lilliput eyes.”Changes affect not only sight, but also hearing and touch, even your own body may seem different. Usually, the syndrome continues with closed eyes. Doctors note the connection, and perhaps the origin, of the disease with migraines. A microscope may be caused by epilepsy, as well as exposure to a drug. This effect can occur in children aged from five to ten years. Often unusual sensations come with the arrival of darkness, when the brain lacks information about the size of surrounding objects.
Blue skin syndrome.
People with this diagnosis have a skin of unusual blue color, purple shades, indigo or plum colors are possible. There is a case when in the 60s a whole family of such “blue” people, known as the Blue Fugates, lived in Kentucky. Such skin color did not prevent them from living peacefully, some people lived up to 80 years. This unique feature is transmitted from generation to generation.
Werewolf syndrome (hypertrichosis)
is characterized in patients with increased hairiness. The disease also occurs in young children, whose dark and long hair grows on the face. This disease is also called a wolf syndrome, since such people are very reminiscent of their wolf 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 performances in the circus of the artist Julia Pastrana, who showed a beard on her face and hair on her arms and legs. People who suffer from the disease often get a wide flat nose, a big 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 to study. But the Chinese scientists for 4 years of searches have found out among the multibillion population only 16 sick people and have found out, that the harmful mutation bears in itself the 17th chromosome, at patients besides the long fragment of DNA with copies of genes is absent. The chromosome reorganizes and reads the neighboring gene, which is responsible for the growth of the hair, as a result, the body begins to intensively produce the corresponding proteins, which give such an external effect.
This disease is characterized by hyper-increased parts of the body in patients. Elephant disease, or lymphatic filaria, is spread by the larvae of worms-parasites. The carriers are mosquitoes. Such a disease is by no means a rarity, it suffers from all over the world more than 120 million people, while a third of them are in serious condition. When a man is bitten by an infected mosquito female, the larvae of the worm enter the blood, which multiply in the human body, being there for several years. In the end, there are many parasites, they start to hit the nearest tissues. The disease manifests itself in intense swelling and an increase in such places as the legs, arms, chest or genitals. Another variant of the disease is stasis of lymph, which leads to the formation of edema. Treatment is usually conservative, eradicating inflammatory diseases, improving lymphatic drainage. Surgical intervention is used only in extreme cases. In 2007, scientists announced the decoding of the parasite genome, which will help to fight disease more successfully and carry out prevention.
This disease is caused by a small malfunction in the child’s genetic code, and the consequences of it are terrible and unavoidable. Almost all children with this diagnosis die prematurely, their average life expectancy is 13 years. Only one patient crossed the 27-year boundary. In their body, the mechanism of aging is much accelerated, all signs of a physically aged person are quickly manifested – early baldness, arthritis, heart disease.These symptoms manifest themselves to 2-3 years of life, the child’s growth slows down sharply, the skin becomes thin, the head sharply enlarges, while the upper part protrudes sharply above the small face. In the world there are about 50 kids with such a disease. There is also a progeria of adults, detected at the age of 30-40 years. Effective ways to combat the disease has not been found so far.
This neurological disease is also referred to as the sleeping beauty disease. It is characterized by episodes of increased drowsiness and behavioral disorders. Most of the day, patients simply sleep, waking up to eat and go to the toilet. The attempt to return them to normal mode causes aggression. Usually people with such a syndrome have confused consciousness, they are often unable to lead an independent life at all. Possible amnesia and hallucinations, rejection of noise and light. 75% of patients experience hunger without saturation. Sick men behave hypersexually, and women are more depressed. Usually, the syndrome is observed at the age of 13-19 years, seizures are observed every few months and last 2-3 days. In the rest of the time, people can lead a completely normal life. It is believed that the disease is passing to adulthood, its true causes have not been established.