The strangest names of diseases. The most terrible diseases that disfigure people

Not only external signs, but also diseases can be inherited. Malfunctions in the genes of ancestors ultimately lead to consequences in the offspring. We will talk about the seven most common genetic diseases.

Hereditary properties are passed on to descendants from ancestors in the form of genes arranged in blocks called chromosomes. All cells of the body, with the exception of sex cells, have a double set of chromosomes, half of which comes from the mother, and the second part from the father. Diseases caused by certain malfunctions in genes are hereditary.

Myopia

Or myopia. A genetically determined disease, the essence of which is that the image is formed not on the retina, but in front of it. The most common cause of this phenomenon is an enlarged eyeball. As a rule, myopia develops during adolescence. At the same time, a person sees perfectly near, but poorly sees into the distance.

If both parents are nearsighted, then the risk of developing myopia in their children is over 50%. If both parents have normal vision, then the probability of developing myopia is no more than 10%.

Studying myopia, employees of the Australian National University in Canberra came to the conclusion that myopia is characteristic of 30% of Caucasians and affects up to 80% of natives of Asia, including residents of China, Japan, South Korea, etc. Having collected data from more than 45 thousand people, Scientists have identified 24 genes associated with myopia, and also confirmed their connection with two previously identified genes. All these genes are responsible for the development of the eye, its structure, and the transmission of signals in the eye tissue.

Down syndrome

The syndrome, named after the English physician John Down, who first described it in 1866, is a form of chromosomal mutation. Down syndrome affects all races.

The disease is a consequence of the fact that in cells there are not two, but three copies of the 21st chromosome. Geneticists call this trisomy. In most cases, the extra chromosome is passed on to the child from the mother. It is generally accepted that the risk of having a child with Down syndrome depends on the age of the mother. However, because young births in general are more common, 80% of all children with Down syndrome are born to women under the age of 30.

Unlike genetic disorders, chromosomal disorders are random failures. And there can be only one person in a family suffering from such a disease. But here, too, there are exceptions: in 3-5% of cases, rarer translocation forms of Down syndrome are observed, when the child has a more complex structure of the chromosome set. A similar variant of the disease can be repeated in several generations of the same family.
According to the Downside Up charity foundation, about 2,500 children with Down syndrome are born in Russia every year.

Klinefelter syndrome

Another chromosomal disorder. For about every 500 newborn boys, there is one with this pathology. Klinefelter syndrome usually appears after puberty. Men suffering from this syndrome are infertile. In addition, they are characterized by gynecomastia - enlargement of the mammary gland with hypertrophy of glands and adipose tissue.

The syndrome got its name in honor of the American doctor Harry Klinefelter, who first described the clinical picture of the pathology in 1942. Together with endocrinologist Fuller Albright, he found out that if normally women have a pair of sex chromosomes XX, and men have XY, then with this syndrome in men there are from one to three additional X chromosomes.

Colorblindness

Or color blindness. It is hereditary, much less often acquired. Expressed in the inability to distinguish one or more colors.
Color blindness is associated with the X chromosome and is transmitted from a mother, the owner of a “broken” gene, to her son. Accordingly, up to 8% of men and no more than 0.4% of women suffer from color blindness. The fact is that in men, the “marriage” in the only X chromosome is not compensated for, since, unlike women, they do not have a second X chromosome.

Hemophilia

Another disease that sons inherit from their mothers. The story of the descendants of the English Queen Victoria from the Windsor dynasty is widely known. Neither she herself nor her parents suffered from this serious disease associated with blood clotting disorders. Presumably, the gene mutation occurred spontaneously, due to the fact that Victoria’s father was already 52 years old at the time of her conception.

Victoria's children inherited the fatal gene. Her son Leopold died of hemophilia at age 30, and two of her five daughters, Alice and Beatrice, were carriers of the ill-fated gene. One of Victoria's most famous hemophiliac descendants is her granddaughter's son, Tsarevich Alexei, the only son of the last Russian Emperor, Nicholas II.

Cystic fibrosis

A hereditary disease that manifests itself in disruption of the exocrine glands. It is characterized by increased sweating, secretion of mucus, which accumulates in the body and interferes with the child’s development, and, most importantly, prevents the lungs from functioning properly. Death due to respiratory failure is likely.

According to the Russian branch of the American chemical and pharmaceutical corporation Abbott, the average life expectancy of patients with cystic fibrosis is 40 years in European countries, 48 ​​years in Canada and the USA, and 30 years in Russia. A well-known example is the French singer Gregory Lemarchal, who died at the age of 23. Presumably, Frederic Chopin also suffered from cystic fibrosis, and died as a result of lung failure at the age of 39.

A disease mentioned in ancient Egyptian papyri. A characteristic symptom of migraine is episodic or regular severe attacks of headache in one side of the head. The Roman physician of Greek origin, Galen, who lived in the 2nd century, called the disease hemicrania, which translates as “half a head.” The word “migraine” comes from this term. In the 90s In the 20th century, it was found that migraine is predominantly caused by genetic factors. A number of genes have been discovered that are responsible for the inheritance of migraine.

There are a huge number of different human diseases, but some of them are especially rare. Some of them owe their non-prevalence to the development of modern medicine. Well, some even question the existence of various medical figures. Among the many rare diseases, we have highlighted for you the 10 most impressive.

Top 10 rarest human diseases

Smallpox is a highly contagious viral infection that only affects humans. Those who survived this disease completely or partially lost their vision, and instead of former ulcers, deep scars remained on their bodies. It was once a fatal disease because there was no cure. Almost every sick person was doomed to death.

But today they have stopped vaccinating the population against it, since the last time a case of smallpox was registered was in 1977. This is a great victory of medicine over disease. But virus strains are still stored in some laboratories today, which can give impetus to bioterrorism.

Stalin suffered from smallpox; scars and welts remained on his face for the rest of his life.

Today it is a very rare disease that is caused by a virus and leads to paralysis. During the disease, the gray matter of the spinal cord is affected and leads to pathologies of the nervous system. Most often it is asymptomatic and less often in an erased form. If the virus enters the central nervous system, it multiplies there and leads to muscle paralysis.

Back in the nineties, 36 countries around the world publicly declared that they had defeated this disease and it had been completely eradicated, and since 2002, not a single similar case of the disease has been reported in Europe. And only 4 years later it was internationally recognized that this disease no longer existed throughout the globe, but in some countries cases of polio still occur to this day.

The fight against polio is still ongoing in some countries

It affects one child in 8 million. This is one of the rare cases of genetic defects. This disease proceeds as follows - the skin and internal organs age prematurely, by the age of thirteen, sick children look like old people. The body acquires all the symptoms of senility. They tried to treat this disease with growth hormones, as well as antitumor drugs, but all measures were unsuccessful. Such patients always died when they reached no more than 20 years of age.

Progeria causes gene mutations, but is not inherited. To date, more than 80 cases of this disease have been recorded in the world. Most often it affects white-skinned children.

A child with progeria

This disease has been described only once in the history of medicine, so it has not been studied at all. It affected two twin girls named Fields, who lived in Wales. Scientists have suggested that this disease is of hereditary origin and is expressed in the gradual impairment of muscle function, which simply leads to limitation of movement over time. The disease progresses, and patients find themselves in a wheelchair.

Fields disease has only been described once in the history of medicine.

This is a rare disease that occurs once in 2 million. The disease occurs as a result of a gene mutation and manifests itself in the form of congenital developmental defects. As a rule, this is a curvature of the big toes, disorders in the cervical spine.

In total, about 700 such cases are known in the world, and the essence of the disease is that any tissue in the body can turn into bone. This disease is the only example where different tissues can turn into completely different ones.

Any tissue with the slightest injury forms foci of bone growth. To date, there are no treatments for this disease. If you cut out a bone tumor, it grows even more.

With progressive fibrodysplasia, any tissue at the slightest injury forms foci of bone growth.

This disease is caused by prions, molecules that are even simpler than viruses but have some of the characteristics of living organisms and are infectious. The disease was known and widespread in New Guinea. It is interesting that ritual eating of the human body was widespread there. Such patients experience disorders of the nervous system, resulting in death. After the government of this state took measures to combat cannibalism, signs of the disease were no longer observed.

The disease was known and widespread in New Guinea.

This is a fairly rare disease that occurs in a ratio of 1 in 35,000. The disease has genetic causes and is characterized by the formation of vascular tumors, which are mainly located in the brain or retina. In later stages of the disease, retinal detachment may occur.

Despite the fact that the disease is benign, since the tumors do not show signs of cancer cells, they can nevertheless lead to strokes, heart attacks and cardiovascular diseases.

Vascular tumor in Von Hippel-Lindau disease

A sign of this disease is a decrease in the size of the skull, and accordingly the brain, while other parts of the body remain normal in size. Microcephaly is accompanied by mental deficiency from imbecility to idiocy.

The main causes of this disease are considered to be exposure to radiation on a pregnant woman, as well as genetic disorders. Such children survive, but their brains cannot develop normally even with intensive correction.

Reduced skull size is a clear sign of microcephaly

The main symptoms of this disease are the following: decreased memory, fatigue increases and worsens, strange threads grow from under the skin, strange sensations appear on the skin, as if insects are crawling on it.

Interestingly, despite the fact that more than 2,000 Americans complain of similar symptoms, the existence of this disease has not yet been proven. Doctors are more inclined to assume that this is a form of hysteria rather than a separate disease.

Morgellons disease - as if insects are crawling on the skin.

There are many types of pemphigus today, but a very small number of patients suffer from paraneoplastic pemphigus. At the same time, the disease is considered rare, dangerous and fatal.

This disorder is a hereditary autoimmune disease, during which it is observed that blisters appear on the mucous membranes of the mouth and other parts of the body. After they burst, weeping areas remain on the body, which are open gates for infection. A large percentage of patients with this diagnosis die from blood poisoning or a malignant tumor that this disease provokes.

Paraneoplastic pemphigus - blisters appear on the oral mucosa and other parts of the body.

Sincerely,

It is impossible to cure a genetic disease, but it is also impossible to get infected accidentally. There are quite a lot of rare diseases in the world, most of which are associated with DNA damage.

Epidermolysis bullosa. The essence of this terrible disease is that from any touch the skin swells, forming a bubble. It subsequently bursts, leaving a bleeding and painful wound. Like the wings of a butterfly, the skin slowly dies when touched. There is no cure, ulcers affect the mucous membranes, esophagus, and internal organs. Everything hurts - moving, drinking, eating, living.

Cystinosis. A disease that can turn a person to stone. The entire body, especially the kidneys, lymphatic system and blood, accumulates abnormal amounts of cystine, which gradually turns into crystals that cause the body's cells to harden. Over time, this leads to petrification. The man is slowly but steadily turning into a statue. Most patients with cystinosis are young children who are not destined to live to adulthood. Their lives depend on chemicals and medications taken daily. This terrible disease causes a slowdown in physical development - children cannot tolerate physical activity and stop growing. Interestingly, the brain remains intact. Medicine is powerless; it is only possible to slow down the pathological process a little.

Cataplexy. Despite all the horror of what is happening to the patient, the symptoms of cataplexy may seem quite funny. Any strong emotion leads to a sudden relaxation of all the muscles of the body and causes loss of consciousness. Fear, embarrassment, anger, joy and even love experiences end in fainting. Seizures can occur up to forty times a day. Medicine is interested in cataplexy for another reason - the disease usually occurs together with narcolepsy.

Extrapyramidal system syndrome. The disease manifests itself in an excessive number of involuntary movements. Attacks overtake a person suddenly: with absolute muscle relaxation, uncontrollable twitching of the limbs and facial muscles appears. Subsequently, the disease causes mental changes and weakens mental abilities, causing insanity. The worst thing is that a person knows about the disease from childhood and can only wait in horror for it to manifest itself. As a rule, this occurs between 30 and 50 years of age. The disease is currently incurable.

Acromegaly. The disease is caused by excessive production of somatotropin, which leads to a significant increase in the human skeleton or certain parts of the body. The cause is a benign tumor located near the pituitary gland, which intensively produces growth hormone. Symptoms become obvious only in physical sensations: intolerance to bright light, double vision, decreased hearing and sense of smell. Then there is a gradual growth of bones and soft tissues, the face becomes larger, the jaws and internal organs increase. The patient suffers from headache, drowsiness and general weakness. Acromegaly has been studied by doctors for a long time, however, there is no effective treatment yet.

Progeria- One of the rarest genetic diseases in the world. There are no more than a hundred cases of progeria known, and only a few people are living with the diagnosis. It can be called pathological accelerated aging. The processes in cells that accompany the disease are not completely clear.

The child develops normally for the first year and a half, and then suddenly stops growing. The nose becomes sharper, the skin becomes thin, covered with wrinkles and spots, like old people. Other symptoms characteristic of older people also appear: baby teeth fall out, permanent teeth do not grow, the head goes bald, the functioning of the heart and joints is disrupted, and muscles atrophy. Patients do not live long - usually 13-15 years. There is also a variant of the adult form of the disease. It affects people of mature age.

Angelman syndrome

It occurs due to the absence of several genes on chromosome 15. The first symptoms of the disease are noticeable even in childhood: the child grows poorly, does not speak, often laughs for no reason, his arms and legs involuntarily twitch or tremble slightly, and epilepsy may appear. He develops much more slowly than his peers, especially in terms of intelligence. Most of these children, when they become adults, will never learn to speak or master a few simple words. However, they understand much more than they can express. Patients received the name happy puppets for their frequent causeless laughter and walking on stiff legs, which is very characteristic of the syndrome.

Gunther's disease

The rarest disease - there are about 200 cases in the world. It is a genetic defect in which the skin has very high photosensitivity. The patient cannot stand light: his skin begins to itch, becomes covered with blisters and ulcers. The appearance of such a person is terrible, he is all covered with scars and healing wounds, pale and emaciated. Interestingly, teeth can be stained red.

It seems that it was those suffering from Gunther's disease who served as the prototype for the creation of the image of a vampire in literature and cinema. After all, they also avoid sunlight - it is literally destructive to the skin.

Robin syndrome

The disease is quite rare and there is still a lot of unknown about it. A child born with this syndrome cannot breathe or eat normally because his lower jaw is underdeveloped, there are clefts in the palate, and his tongue is sunken. In some cases, the jaw may be absent altogether, giving the face characteristic bird-like features. The disease is treatable.

Progeria. Occurs in one child out of 8,000,000. This disease is characterized by irreversible changes in the skin and internal organs caused by premature aging of the body. The average life expectancy of people with this disease is 13 years. There is only one known case in which the patient reached the age of forty-five years. Was recorded in Japan.

During the Middle Ages, people with a similar gene defect were called werewolves or apes. This disease is characterized by excessive hair growth throughout the body, including the face and ears. The first case of hypertrichosis was recorded in the 16th century.

One of the rarest gene failures. It makes its owners very sensitive to the widespread human papillomavirus. In such people, the infection causes the growth of numerous skin growths that resemble wood in density. The disease became widely known in 2007 after a video of 34-year-old Indonesian Dede Kosvara appeared on the Internet. In 2008, a man underwent a complex operation to remove six kilograms of growths from his head, arms, legs and torso. New skin was transplanted onto the operated parts of the body. But, unfortunately, after some time the growths appeared again.

In carriers of this disease, the immune system is inactive. People started talking about the disease after the film “The Boy in the Plastic Bubble,” which appeared on screens in 1976. It tells the story of a small disabled boy, David Vetter, who is forced to live in a plastic bubble. Since any contact with the outside world could be fatal for the baby. In the film, everything ends with a touching and beautiful happy ending. The real David Veter died at the age of 13 after doctors failed to strengthen his immune system.

What are genetic diseases?

Every healthy person has 6-8 damaged genes, but they do not disrupt cell functions and do not lead to disease, since they are recessive. If a person inherits two similar abnormal genes from his mother and father, he becomes ill. The probability of such a coincidence is extremely low, but it increases sharply if the parents are relatives. For this reason, the incidence of genetic abnormalities is high in closed populations.

Each gene in the human body is responsible for the production of a specific protein. Due to the manifestation of a damaged gene, the synthesis of an abnormal protein begins, which leads to impaired cell function and developmental defects.

A doctor can determine the risk of a possible genetic anomaly by asking you about diseases of relatives “up to the third generation” on both your side and your husband’s side.

There are a great many genetic diseases, some of which are very rare.

Here are the characteristics of some genetic diseases.

Down syndrome- a chromosomal disease characterized by mental retardation and impaired physical development. The disease occurs due to the presence of the third chromosome in the 21st pair. It is the most common genetic disorder, affecting approximately one in 700 births. The incidence of Down syndrome increases in children born to women over 35 years of age. Patients with this disease have a special appearance and suffer from mental and physical retardation.

Turner syndrome- a disease that affects girls, characterized by the partial or complete absence of one or two X chromosomes. The disease occurs in one in 3,000 girls. Girls with this condition are usually very short and their ovaries do not function.

Rare genetic diseases in children

Osteogenesis imperfecta is a hereditary disease that causes a decrease in bone mass and causes increased fragility. It is assumed that the cause of osteogenesis imperfecta is a congenital disorder of collagen metabolism. In cases where osteogenesis imperfecta manifests itself after childbirth, they speak of a dominant type of inheritance, i.e. a child may become ill if one of his parents suffers from this pathology. A severe form of the disease, in which a child is born with multiple fractures or receives them during childbirth, is inherited recessively, i.e. in the event that the gene causing the pathology is present in both parents.

Progeria a very rare genetic defect, expressed in extensive changes in the skin and internal organs caused by premature aging of the human body. There are 52 cases of progeria recorded on our planet. Children with progeria do not differ in appearance from ordinary children until six months after birth. But later they develop symptoms characteristic of old age: the skin becomes covered with wrinkles, bones become brittle, and atherosclerosis develops. Children with this terrible genetic defect die between the ages of 5 and 15 years. Childhood progeria is caused by gene mutations; DNA repair defects have been found in the cells of children with progeria.

Ichthyosis - This is a hereditary skin disease that occurs as a dermatosis. It is characterized by a diffuse disorder of keratinization and manifests itself in the form of scales on the skin. The main cause of ichthyosis is a gene mutation, the inherited biochemistry of which has not yet been deciphered. Protein metabolism disorders are the main manifestation of the gene mutation that leads to ichthyosis. Most forms of ichthyosis affect one person in tens of thousands.

Conclusion. These diseases are currently difficult to treat, and children become disabled from birth. It is necessary not only to improve treatment methods, but also to introduce them to the etiology of these diseases, which is especially important for people who have chosen the profession of a doctor in the future.

Sources: pikabu.ru, ljrate.ru, bigpicture.ru, www.sweli.ru, medconfer.com

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Today we will tell you about the most unusual and incomprehensible deviations from the norm. No methods or drugs have yet been found to cure most of these patients. Fortunately, all these abnormalities are so rare that patients with similar symptoms occur once in several thousand or even millions of people.

(Total 15 photos)

1. Robina Hutchings from England suffers from trichotillomania - an uncontrollable desire to pull out her hair. In April, she gave an interview to the London Daily Mail newspaper, in which she admitted that she began pulling out her hair at the age of 11 and now, 27 years later, she still cannot overcome her addiction. (Damien Mcfadden, Whitehotpix / ZUMA Press)

2. Shiloh Pepin was born with fused legs, a condition often called “mermaid syndrome.” Although doctors believed that the girl was destined to live only a few days, she lived for ten years. Shiloh died on October 23, 2008. She is pictured here sitting on a table in her home in Kennebunkropt, Maine in 2007. (Gregory Rec, Portland Herald/AP)

4. At 2 years old, Reuben Granger-Mead (left) was diagnosed with an illness that doctors liken to a constant hangover. It slows down its growth, weakens it and increases its heart rate. Traditional medicine didn't help. Then the nutritionist discovered that Ruben was getting almost no certain amino acids and vitamins. His parents changed his diet and the 8-year-old boy is now on the mend. (Ross Parry Agency)

9. “Werewolf Man” Larry Ramos Gomez from Mexico (photo taken in 2007) suffers from a rare disease called generalized congenital hypertrichosis - excess hair. This spring, a reality show featuring Gomez was filmed in the United States, where he looked very unusual standing under a wind blower. (Mary Altaffer, AP)

12. Elizabeth Fodale-Bouse suffers from an “environmental” condition that makes her feel unbearably sick from everyday objects. She spent 10 hours a day in a room freed from chemical objects (“bubble”). In October, the court ordered the demolition of her house because it was built without permission. (Rick Smith, AP)14. Ashlyn Blocker is one of the few people in the world who suffers from congenital insensitivity to pain with anhidrosis, a rare, incurable inherited condition that leaves her unable to feel pain. Because of the same disease, she does not feel a sharp change in temperature - neither heat nor cold. In this photo, Ashlyn watches her classmates dance in class in October 2004. (Stephen Morton, AP)

Many are confident that a healthy lifestyle and regular preventive procedures provide one hundred percent protection against various health problems, but sometimes people “catch” diseases that they have never even heard of. Here are some of the exotic ailments.

1. Progressive lipodystrophy

People suffering from this unusual condition appear much older than their age, which is why it is sometimes called “reverse Benjamin Button syndrome.” For example, in one famous case of this type of lipodystrophy, 15-year-old Zara Hartshorn is often mistaken for the mother of her older 16-year-old sister. What is the reason for such rapid aging?

Due to an inherited genetic mutation, and sometimes as a result of the use of certain medications, autoimmune mechanisms in the body are disrupted, which leads to rapid loss of subcutaneous fat reserves. Most often, the fatty tissue of the face, neck, upper limbs and torso is affected, resulting in wrinkles and folds. So far, only 200 cases of progressive lipodystrophy have been confirmed, and it mainly develops in women. In treatment, doctors use insulin, facelifts and collagen injections, but this gives only a temporary effect.

2. “Stone Man” Syndrome

This congenital hereditary pathology, also known as fibrodysplasia ossificans progressive, or Munheimer's disease, occurs due to a mutation in one of the genes and is one of the rarest diseases in the world.

The bottom line is that inflammatory processes occurring in ligaments, muscles, tendons and other connective tissues lead to calcification and ossification of matter, which is fraught with serious problems with the musculoskeletal system. This disease is also called “disease of the second skeleton”, since there is active growth of bone tissue in the human body.

At the moment, 800 cases of fibrodysplasia have been registered in the world, and so far doctors have not found effective methods for treating or preventing this disease - only painkillers are used to alleviate the plight of patients. It must be said that there is hope for correcting the situation, since in 2006 scientists were able to discover which genetic abnormality leads to the formation of a “second skeleton,” and active clinical trials are currently underway to develop ways to combat this terrible disease.

3. Geographical language

Interesting name for a disease, isn't it? However, there is a scientific term for this “sore” - desquamative glossitis.
Geographic tongue occurs in approximately 2.58% of people, and most often the disease has chronic properties and worsens after eating, during stress or hormonal stress.

Symptoms manifest themselves in the appearance of discolored smooth spots on the tongue, reminiscent of islands, which is why the disease received such an unusual nickname, and over time, some “islands” change their shape and location, depending on which of the taste buds located on the tongue heal, and some, on the contrary, get irritated.

Geographic tongue is practically harmless, if you do not take into account increased sensitivity to spicy foods or some discomfort that it can cause. Medicine does not know the causes of this disease, but there is evidence of a genetic predisposition to its development.

4. Gastroschisis

This somewhat funny name hides a terrible birth defect in which loops of intestine and other internal organs fall out of the body through a cleft in the anterior wall of the abdominal cavity.

According to statistics from American doctors, gastroschisis occurs on average in 373 out of 1 million newborns, and young mothers have a slightly higher risk of having a child with this disorder. Previously, approximately 50% of infants with gastroschisis died, but thanks to the development of surgery, mortality has been reduced to 30%, and in the best clinics in the world, approximately nine out of ten babies can be saved.

5. Xeroderma pigmentosum

This hereditary skin disease manifests itself in a person's increased sensitivity to ultraviolet rays. It occurs due to mutations in proteins responsible for correcting DNA damage that occurs when exposed to ultraviolet radiation. The first symptoms usually appear in early childhood (up to 3 years): when the child is in the sun, he develops serious burns after just a few minutes of exposure to sunlight. The disease is also characterized by the appearance of freckles, dry skin and uneven discoloration of the skin.

According to statistics, people with xeroderma pigmentosum are more at risk of developing cancer than others: in the absence of proper preventive measures, approximately half of children suffering from xeroderma will develop some kind of cancer by the age of ten. There are eight types of this disease of varying severity and symptoms. According to European and American doctors, the disease occurs in approximately four people out of a million.

6. Arnold-Chiari malformation

In simple terms, the essence of this disease is that due to the rapid growth of the brain in the slowly developing bones of the skull, the cerebellar tonsils are immersed in the foramen magnum with compression of the medulla oblongata.

Previously, it was believed that the deviation was exclusively congenital, but recent studies prove that this is not so. The incidence of this anomaly ranges from 33 to 82 cases per million, and it is diagnosed in both children and adults.

There are several types of Arnold-Chiari malformation: from the most common and least severe first, to the very rare and dangerous fourth. Symptoms can appear at different ages and most often begin with severe headaches. One of the recognized methods of helping with the disease is surgical decompression of the skull.

7. Alopecia areata

The reasons for the development of this disease lie at the cellular level - the immune system mistakenly attacks the hair follicles, which leads to baldness. One of the most severe and rare forms of this disease, alopecia totalis, can lead to complete loss of hair on the head, eyelashes, eyebrows and leg hair, while in some cases the follicles are capable of self-healing.

About 2% of the world's population is affected by the disease, and methods for treating and preventing the disease are currently being developed, however, the fight against alopecia areata is complicated by the fact that in the initial stages the deviation is characterized only by itching and increased sensitivity of the skin.

8. Nail-patella syndrome (nail-patella syndrome)

This disease in its mild form manifests itself in the absence or abnormal growth of nails (with depressions and growths), but its symptoms can be quite varied - up to more serious skeletal abnormalities such as severe deformation or absence of the kneecap. In some cases, visible growths on the posterior surface of the ilium, scoliosis and patellar luxation are noted.

The rare hereditary disorder occurs due to a mutation in the LMX1B gene, which plays an important role in the development of limbs and kidneys. The syndrome occurs in 1 person out of 50 thousand, but the symptoms are so varied that sometimes identifying the disease at the initial stage is incredibly difficult.

9. Hereditary sensory neuropathy type 1

One of the rarest diseases in the world, this type of neuropathy is diagnosed in two out of a million people. The anomaly occurs due to damage to the peripheral nervous system resulting from an excess of the PMP22 gene.

The main sign of the development of hereditary sensory neuropathy type 1 is loss of sensation in the arms and legs. A person stops experiencing pain and feeling a change in temperature, which can lead to tissue necrosis, for example, if a fracture or other injury is not recognized in time. Pain is one of the body’s reactions that signal any “problems”, so the loss of pain sensitivity is fraught with too late detection of dangerous diseases, be it infections or ulcers.

10. Congenital myotonia

If you've ever heard of goat faint, then you know roughly what congenital myotonia looks like - due to muscle spasms, a person seems to freeze for a while.

The cause of congenital (congenital) myotonia is a genetic deviation: due to a mutation, the functioning of the chloride channels of skeletal muscles is disrupted. The muscle tissue becomes “confused”, voluntary contractions and relaxations occur, and the pathology can affect the muscles of the legs, arms, jaws and diaphragm.

Currently, doctors do not have an effective way to solve this problem, other than radical drug treatment (with the use of anticonvulsants) in the most severe cases. Doctors recommend that almost everyone suffering from this disease alternate regular exercise with smooth muscle-relaxing movements. I must say, despite some inconveniences, people with this disease can easily live a long and happy life.