Top 13 Rarest Diseases In The World You Should Know
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Raising awareness is essential because it helps people determine whether they have a condition for which they can receive treatment. Regrettably, a great deal of uncommon diseases now lack treatments or solutions because there are so few individuals willing to take part in research trials. This article examines 13 diseases that require additional financing, scientific research, and public education.
How many rare diseases exist worldwide?
In 2020, Wakap et al. conducted a study on rare diseases that listed 6,172 distinct rare disorders. Wakap et al. (2020) discovered that, out of the 6,172 distinct rare diseases, the following are exclusively paediatric 69.9% (3,510 rare diseases) 11.9% (600 rare diseases) exclusively adult 18.2% (908 rare diseases) have onset spanning both paediatric and adult groups
An estimated 4,300,000 individuals in the European Union alone are living with a rare cancer diagnosis, according to statistics from the RARECARE European population-based rare cancer registry. In the EU, this represents 24% of all cancer diagnoses.
Which diseases are considered rare?
Orphanet Database for Orphan Medications and Rare Diseases
Rare Disease Database, National Organization for Rare Disorders (NORD)
Rare diseases are categorised and recognized as having either a genetic or non-genetic origin. If the etiology of an uncommon condition is not genetic, it will probably have some environmental component.
A bacterial or viral infection, an allergy, or other environmental factors like breathing in asbestos could have caused the disease. Unanswered questions surround a few uncommon medical disorders.
How many rare diseases are treated?
The number of uncommon diseases that are treated is a topic of debate. Stakeholders in rare diseases estimate that around 95% of uncommon disorders lack a treatment because the number is so difficult to determine. This indicates that an approved treatment is available for only 5% of uncommon illnesses.
We are trying to change this at Beacon. We think that drug repurposing holds the key to the advancement of treatment for uncommon diseases.
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| Top 13 Rarest Diseases In The World Today |
What every uncommon disease has in commonEvery patient and family who suffers from a rare disease has something in common. There is little research, insight, and knowledge in medicine regarding rare disorders. Misdiagnosis, postponed treatment, inadequate care coordination, and insufficient support are frequent challenges faced by patients and their families. Being diagnosed with a rare illness can cause social isolation for the sufferer as well as their family. Physicians and researchers should not ignore rare disorders or the people they affect. |
Top 13 Rarest Diseases In The World Today
1. Von Hippel-Lindau (VHL)
How rare: 1 in 35,000
The prevalence of von Hippel-Lindau disease (VHL) is estimated to be one in 35,000. Tumor growth in many bodily areas is a characteristic of this incredibly rare hereditary disorder. Many of the tumors, which are composed of blood vessels and frequently benign, will spread throughout the central nervous system. These tumors, which are referred to as hemangioblastomas in medicine, can begin to form in the brain, spinal cord, or retina. It is also known that various cancers can develop on the kidneys, adrenal glands, and pancreas. Strokes, heart attacks, and cardiovascular disease might result from the illness if treatment is not received.
2. Kuru
Kuru is one lethal disease, despite its rarity. But because it is so uncommon, the illness is limited to a region of New Guinea, namely the highland Fore tribe. Cannibalism is a ritualistic practice in which the tissues of others, particularly the brain, are cooked and devoured. It is the source of the sickness. The disease typically renders its victims comatose for six to twelve months after they lose the ability to stand or eat. Kuru is thought to have claimed the lives of 1,100 or more persons in the 1950s and 1960s. Kuru has now mostly vanished as a result of widespread efforts to eradicate cannibalism and government involvement.
3. Stoneman Syndrome
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How rare: One in two million people have Stoneman Syndrome
Stoneman Syndrome, also known as fibrodysplasia ossificans progressive (FOP), is a condition that gradually converts connective tissue—such as tendons, muscles, and ligaments—into bone.
The diseases begin in the neck, go down to the shoulders, then progressively spread to the lower body and, at last, the legs. As the condition worsens, body movements will become increasingly limited as the joints become impacted. The patient has problems opening his mouth, which makes eating and speaking difficult.
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4. Alice In Wonderland Syndrome (AIWS)
As of now, the frequency is unknown.
In 1955, British psychiatrist Dr. John Todd provided the first description of AIWS. Todd gave it this name since the disease matches the experiences of Alice from Lewis Carroll's well-known tale.
The most noticeable and frequently unsettling symptom is changed body image, where the individual has confusion about the dimensions of their body parts. The hands and head are typically mentioned; growth appears to be more common than shrinkage.
The distortion of visual perception is the second main sign. The person with this condition has normal vision, but they see objects as being incorrectly sized, shaped, or from an inappropriate perspective. This may result in the appearance of persons, vehicles, buildings, and distances appearing inaccurately measured or greater than they actually are. For instance, a hallway could seem incredibly lengthy, or the ground might seem too near.
5. Alkaptonuria
One in every million persons worldwide is the frequency.
The extremely rare genetic condition known as "black urine disease," or alkaptonuria, stops the body from completely breaking down the amino acids tyrosine and phenylalanine, which are the building blocks of proteins.
The body experiences an accumulation of homogentisic acid as a result.
This can eventually cause a number of issues and render the urine and other body parts a dark color.
Chemical processes typically result in the breakdown of amino acids. However, homogentisic acid—a chemical created along the way—cannot be further broken down in alkaptonuria. This is due to improper functioning of the enzyme that typically breaks it down. Proteins called enzymes catalyze chemical processes.
6. Polio
Polio is a contagious disease that was initially identified and understood in 1840. It can also spread through tainted food or water. The majority of polio cases show no symptoms at all, unless the virus enters the bloodstream. Polio typically results in paralysis and weakening of the muscles. Although polio was a common illness in the early 1990s, it has now been eradicated in 36 nations. Europe declared in 2002 that since receiving the poliovirus vaccination, there had not been any cases of polio. As of 2006, just four nations in the globe continued to classify polio as an endemic.
7. Smallpox
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All of us have heard of smallpox, and arguably even more about the vaccination that is currently only administered in cases where the disease is highly likely to occur. It has been suggested that smallpox may have existed as early as 10,000 BC. High fever, exhaustion, and a rash with flat red blisters that eventually cover the entire body are the hallmarks of smallpox. In the 18th century, smallpox killed 400,000 people annually, and in the 20th century, it is thought to have killed 300–500 million people. However, smallpox was last reported in 1977 due to global immunization. The sickness is thought to be exceedingly infrequent as a result. Smallpox is still a concern today, but it takes the form of bioterrorism.
8. Methemoglobinemia, also known as Blue Skin Disorder
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Perhaps you've heard of persons with blue skin.
Methemoglobinemia is a rare medical illness that is the cause of this. Your blood appears blue as a result of this. Individuals with the illness exhibit blue nails, lips, and skin.
This is only one of the many uncommon blood disorders that exist in the world. Our bodies contain an unusually high level of methemoglobin in this state. The type of hemoglobin that gives human blood its blue color is called methemoglobin.
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9. Water Allergy or Aquagenic Urticaria
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It may come as a surprise to you, but some people have allergies to water.
People who are exposed to water develop red, itchy hives regardless of the temperature. There have only been 50 documented cases of water allergy to far, making the ailment extremely uncommon.
These individuals may also be allergic to snow, perspiration, rain, or even tears in addition to flowing water. You heard correctly. Although the precise etiology of the illness is still unknown, it may have originated from an interaction between water and any component of your skin.
Although most allergy symptoms go away on their own, there are several drugs that can be used to treat water allergies. In this instance, it is also advised to limit your exposure to the water.
10. Microcephaly
How rare: one in every 666,666 people
Very uncommon, microcephaly manifests itself as soon as a baby is born, and occasionally even earlier. In the US, it affects one in every 666,666 people. When a baby has microcephaly, their brain cannot expand normally in the womb or may even stop growing altogether. Because of this, the head is smaller at delivery than it would be for a typical infant. Many people think that radiation exposure, genetic issues, or exposure to toxic substances while still in the womb are the causes of the condition. Usually, the condition occurs concomitant with Down syndrome. In addition to mental retardation, hyperactivity, dwarfism, seizures, balance problems, speech and movement difficulties, and other conditions are common in people with microcephaly.
11. Alkaptonurous
One in every million persons worldwide is the frequency.
The extremely rare genetic condition known as "black urine disease," or alkaptonuria, stops the body from completely breaking down the amino acids tyrosine and phenylalanine, which are the building blocks of proteins.
The body experiences an accumulation of homogentisic acid as a result.
This can eventually cause a number of issues and render the urine and other body parts a dark color.
Chemical processes typically result in the breakdown of amino acids. However, homogentisic acid—a chemical created along the way—cannot be further broken down in alkaptonuria. This is due to improper functioning of the enzyme that typically breaks it down. Proteins called enzymes catalyze chemical processes.
12. RPI Deficiency
Since there is only one instance of RPI deficiency worldwide, this illness is the rarest in the world.
The enzyme ribose-5-phosphate isomerase, or RPI, is a crucial component of a metabolic pathway in humans.
The disorder is extremely uncommon and can cause severe symptoms like mental retardation, developmental delays, spasticity (stiffness in the muscles), ataxia (uncontrollably sudden movement of the muscles), optic atrophy (condition of the optic nerve), seizures, and leukoencephalopathy (reduction in the white matter of the brain).
13. Lesch-Nyhan
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Have you ever observed someone striking their head or eating with their hands?
Most likely not. It's a rare medical condition, though, and its symptoms include self-eating. Indeed, this is a symptom of a disease called Lesch-Nyhan Syndrome.
This rare metabolic disorder causes the body to produce excessive amounts of uric acid, which can cause neurological impairment and self-harming behavior in affected individuals. Fortunately, the illness only affects 1 in every 300,000 people, making it extremely rare. It's also critical to understand that this illness exclusively affects men, and that women typically act as carriers of the illness.
What societal and medical repercussions result from these diseases' rarity?There is a knowledge gap in medicine and science regarding rare diseases. Rare diseases were unknown to physicians, scientists, and policymakers for a very long time, and until recently, there was no significant study or public health policy addressing concerns pertaining to the sector. Most uncommon diseases have no known cure, but with the right care and treatment, afflicted individuals can live longer and have better quality of life. Significant progress has already been made in the fight against some diseases, demonstrating that we shouldn't give up but rather keep going and intensify our efforts in the areas of social solidarity and research. Individuals afflicted with these illnesses encounter comparable challenges while seeking a diagnosis, pertinent data, and appropriate guidance towards skilled practitioners. Particular concerns are equally brought up with relation to professional and social integration and independence, general medical and social assistance, efficient communication between hospitals and general practitioners, and availability of high-quality healthcare. Additionally, people with uncommon diseases are more vulnerable in terms of their psychological, social, economic, and cultural well-being. Appropriate policies could help overcome these challenges. Insufficient scientific and medical understanding prevents many individuals from receiving a diagnosis, leaving their illness unidentified. These are the ones who are most negatively impacted by their inability to get the help they need. |
Summary
In summary, this article focused on a few of the world's uncommon diseases. Certain people can still develop these illnesses, even if they only impact a smaller percentage of the population. Therefore, it's critical to monitor your health and get medical attention as soon as you notice any symptoms of a common or uncommon medical problem.
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