25 rare diseases that even doctors may not know about (26 photos)

There are a huge variety of diseases and disorders. Some diseases are common, while others are so rare that only specialists know about their existence. Diagnosis of this condition can take years, and treatment will likely take even longer. And the more aware we are, the better for us.





1. Sleeping beauty syndrome



It's normal to feel tired during the day. But while the average person only needs a 20-minute nap to recuperate, a person with Kleine-Levine syndrome, or sleeping beauty syndrome, can sleep up to 20 hours in essence and still feel tired.

Excessive sleepiness causes a person to constantly feel sluggish and confused. It is possible to get him out of this state with the help of some strong stimulants, but only temporarily. There is still no treatment for the syndrome.

2. Alexander disease





This is an inherited disease in which the white matter of the brain progressively degenerates. Common symptoms include thinning of the scalp, decreased heart rate, headaches and vomiting.

The disease occurs in one in a million newborns and can take years to be properly diagnosed. This disease can develop not only in early childhood, but also in an adult.

3. Kuru



Kuru is a disease of the nervous system characterized by encephalopathy and damage to the part of the brain responsible for coordination and balance.

Scientists have discovered that members of communities in New Guinea that practice cannibalism as part of a funeral ritual and eat the brains of people who have died from Kuru also develop the disease.

4. Mobius syndrome



This rare neurological disease affects the muscles that control facial expressions and eye movements. Babies with this condition usually have to be fed by tube or they won't be able to eat enough food.

The pathology is congenital and can be inherited.

5. Porphyria



Porphyrin disease is a predominantly hereditary disorder of pigment metabolism, which is characterized by photodermatosis, disorders of the gastrointestinal tract and nervous system. Hallucinations may also occur.

Fortunately, there is a treatment method - using intravenous infusions of drugs.

6. Alice in Wonderland Syndrome



Alice in Wonderland Syndrome gets its name from an episode in the book in which Alice drinks a magic potion and begins to shrink in size (and then eats a piece of cake and begins to grow larger). This is exactly how people with this disease feel.

This neurological condition disorients a person and makes him feel (in whole or in parts) much larger or smaller than he really is. There is no cure. Doctors say the best way to cure a person with this disease is to simply make them feel comfortable.

7. Progeria



Progeria is a fatal disease that affects one in every four million people in the world. It causes premature aging of the child's body. The longest life expectancy among patients with progeria known to science was 26 years.

Children with this rare genetic defect often suffer from heart problems and strokes. Unfortunately, there is still no treatment, but scientists are actively looking for ways to restore damaged cells and alleviate the symptoms of the disease.

8. Morgellons disease



People with this condition often develop sores on the skin and the sensation that insects or worms are crawling and biting on the skin. They also think they find some kind of fibers under the skin. Patients also experience joint and muscle pain and muscle cramps.

Doctors prescribe various types of antibiotics as treatment, but they can only relieve symptoms temporarily. Experts believe that this disease is psychogenic in nature.

9. Allergy to water



Water is everywhere you look. Our body is mainly composed of water. Water covers about 71% of the earth's surface. But, as crazy as it may sound, the diagnosis of “water allergy” is very real.

You won't envy people with such allergies. How to drink water, take a shower, swim? And doctors can only prescribe antihistamines if inevitable contact with water occurs.

10. Munchausen Syndrome by Proxy



Hearing that a child is sick is a parent's worst nightmare. For a caregiver with Munchausen syndrome by proxy, this could be a dream come true.

This is a psychological disorder that is characterized by a person seeking medical help for a healthy child or adult. He exaggerates or completely makes up the symptoms of the disease. And he convinces the person he influences that he is very sick.

11. Loesch-Nychen syndrome



This rare inherited disease causes the body to produce too much uric acid. Symptoms of the disease are mental retardation, attacks of aggression and auto-aggression, inflammation of the joints, stones in the kidneys and bladder.

Doctors often recommend that patients with Loesch-Nychen syndrome use gout medications.

12. Marie Antoinette Syndrome



Marie Antoinette, the last queen of France before the French Revolution, was known for her luxurious lifestyle and voluminous white wigs. That's why a rare condition that causes hair to suddenly turn gray is named after her.

Nobody wants to go gray prematurely and quickly. Fortunately, sudden loss of melanin can be treated quite successfully with steroids or a good hair dye.

13. Hypertrichosis



In some places in the world, increased hairiness is considered sexually attractive. However, excessive hair growth in areas of the skin that does not correspond to gender and/or age may be a sign of hypertrichosis.

This is a rare disease that is characterized by abnormal hair growth throughout the body - on the face, neck, back, arms, legs. A cure for hypertrichosis has not yet been found. All that remains is to carry out hair removal procedures.

14. Elephantiasis



The 1980 historical film The Elephant Man does a very good job of explaining what elephantiasis is and what it's like to live with it. The disease is transmitted to humans through mosquitoes and transforms appearance.

Once infected, a person's limbs become stiff and parts of their muscle tissue begin to swell. The disease is chronic, but can be treated in the early stages.

15. Xeroderma pigmentosa



Without the Sun there would be no life on Earth. However, for some people, solar radiation causes a lot of suffering.

Xeroderma pigmentosum is an inherited skin disorder that makes it difficult for the body to repair DNA damage caused by sunlight. Symptoms include dry skin, changes in skin pigmentation and severe sunburn after short-term exposure to the sun. May lead to skin cancer.

16. Fragile X syndrome



This is a rare genetic defect caused by a mutation in the FMR1 gene. Researchers have found that the disease affects men more severely.

Symptoms include learning difficulties and cognitive impairment. There is no treatment yet, only relief through therapy and special forms of intensive training.

17. Cotard's delirium



Everyone has had a day when, no matter what they did, it seemed as if they were not there. It's definitely an unpleasant feeling, but a person with Cotard's delusion feels like this all the time... and much worse.

This psychiatric syndrome causes depressive-manic delusions and makes a person feel that he is already dead or does not exist at all. This is why it is also called walking corpse syndrome. Most often, people with this disease are diagnosed with depression.

18. Myostatin-related muscle hypertrophy



Most rare diseases are quite painful and sometimes even fatal. However, muscle hypertrophy associated with myostatin stands out from the rest.

This genetic disease is caused by a mutation in the MSTN gene, which causes the body to actively reduce fat and build muscle. People who have been diagnosed with this disease typically have twice the muscle mass and increased strength. They have medical problems and intellectual problems.

19. Fibrodysplasia ossificans progressive



Muscle tissue is very soft and gives the muscles the ability to contract and lift. In a person diagnosed with fibrodysplasia ossificans progressiva (FOP), muscle tissue, connective tissue, and ligaments are slowly replaced by bone.

Over time, the person loses the ability to move. Most patients with FOP are bedridden by age 20, and their average life expectancy is 40 years.

20. Brad Capgras



Imagine living in a world of constant fear that one of your loved ones has been replaced by an impostor who is exactly like them. For a person with Capgras syndrome, or misrecognition syndrome, this fear is a reality.

Some researchers believe this rare disease is caused by both physical and cognitive changes in the brain. Unfortunately, there are currently no medications or treatments that effectively treat Capgras delusions.

21. Proteus syndrome



Proteus syndrome is one of the most painful diseases. This rare congenital disorder causes abnormal growth of certain parts of the body.

A disproportionately large head, arm, or leg may grow. Associated with this are thrombosis, thromboembolism, and tumor formation.

22. Fishy odor syndrome



The next time you smell a sudden smell of rotten fish, try not to immediately think negatively about the person. He may have a rare disease.

Trimethylaminuria, also known as fishy odor syndrome, occurs when the body is unable to break down certain nitrogen-containing compounds (trimethylamine). They accumulate in the body. A strong and unpleasant fishy odor appears from the body, bad breath, unpleasant odor of sweat and urine.

23. Congenital sensory neuropathy with anhidrosis



This is a very rare genetic disorder, also known as congenital pain insensitivity with Swainson's anhidrosis.

The disease is autosomal recessive. This means that it arose as a result of inheriting two mutated genes from parents. People with this disorder do not feel pain from injuries or burns, are unable to sweat in hot weather, and suffer from chronic bone infections and joint deformities.

24. Fatal familial insomnia



This is not ordinary insomnia, but a rare and incurable hereditary disease in which a person is unable to sleep.

The disease progresses, insomnia becomes more severe, panic attacks and phobias appear, and eventually the person inevitably dies. No cure found. Only 42 families are known to be affected by this disease.

25. Autobrewery syndrome



As crazy as it may sound, there is a disease that causes the human body to naturally produce intoxicating amounts of ethanol. This leads to feeling tired, sore and bloated.

The disorder can be treated by reducing the amount of carbohydrates in the diet. Antifungal medications are also used to help stop the yeast pathogen from fermenting in the digestive system.