Top 10 Rare Diseases in the World You Never Heard About

How many rare diseases are there globally?

Top 10 Rare Diseases in the World You Never Heard About

February 15, 2023 0

When we speak of diseases, regular lifestyle diseases like hypertension, diabetes, migraine or even chronic ones like cancer and stroke come to our mind. Apart from these, several rare diseases in the world have been causing several health complications and even deaths for years now. Let us look into some of these rare diseases and find out what makes them so unique that most of us have not even about them.

What are rare diseases?

Rare diseases are the ones that impact very few people out of the general population. Most of these diseases don’t even have proper treatment at the moment. While several general diseases can be diagnosed and treated with a visit to a multi super speciality hospital, the same is not the case with the diseases listed below. Due to their rarity, some of these diseases can be quite fatal and have high death rates. 

  • RPI Deficiency

This is considered to be the rarest disease in the world. Ribose-5-Phosphate Isomerase (RPI), is a crucial enzyme in a metabolic process in the human body. This condition can cause muscle stiffness, seizures, and reduction of white matter in the brain. The only known case of RPI deficiency was diagnosed in 1984 and since then there have been no cases.

  • Field’s disease

Another rare disease with only two known cases (twin sisters), Field’s disease is a neuromuscular disorder that causes degeneration of muscles and weakening of the body. Medical experts are still researching the condition and there are chances of more cases cropping up in the future.

  • Hutchinson-Gilford Progeria Syndrome (HGPS)

This condition causes premature aging and makes even 2-year-olds look aged and weak. This condition causes protruding eyes, wrinkled skin, and hair loss. This condition is extremely rare and can be noticed in 1 out of 20 million people. There is no cure for HGPS at the moment and medical research is on to find ways to counter this condition.

  • Methemoglobinemia

Methemoglobemin is a form of haemoglobin that makes our blood blue in color. A person suffering from Methemoglobinemia has an excess formation of Methemoglobemin causing their skin, lips, and nails to turn blue.

  • Aquagenic Urticaria (Water Allergy)

Allergy to certain foods is a common occurrence. But, being allergic to water is also a health condition and an extremely rare disease. In this condition, a person’s skin turns red and itchy after overexposure to water. People suffering from this condition can also be allergic to snow, sweat, and rain.

  • Foreign Accent Syndrome

This condition causes a person to speak in a different accent from the natural one. It happens due to misalignment of the tongue which causes difficulty in pronouncing words as they should in the native language. The main cause of Foreign Accent Syndrome is a brain injury.

  • Lesch–Nyhan Syndrome

One of the most dangerous and rare diseases, Lesch-Nyhan syndrome causes people to behave aggressively and harm themselves through head hitting and hand biting. This neurological disability happens due to the excess production of uric acid in a person’s body. The probability of this disease is 1 in 3,00,000 and affects only males

  • Kuru Disease

Kuru disease is limited to just the Kuru tribe in Papua New Guinea. This disease occurs due to a ritual of tribes to consume the tissues of their loved ones after their death. Eating human brain tissues causes the transmission of prion- an infectious protein.

  • Harlequin

This disease makes skin look like fish scales hence increasing the chance of infection and the inability of the body to maintain proper temperature. The likelihood of surviving harlequin is rising thanks to advanced medical treatment, but there is still no permanent cure.

  • Stone Man’s Disease

This unusual and rare disease transforms a person’s muscle tissues into bones. This disease is also called fibrodysplasia ossificans progressiva (FOP). The heart, diaphragm, tongue, and other extra smooth and eye muscles are the only bodily muscles that do not develop into bones when a person is suffering from this rare disease.

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