Archives 2022

5 Rare Diseases in Humans

Medical science has developed steadily over the years. Modern technologies and inventions have helped the authorities and medical practitioners treat diseases that were once considered to be fatal. Today, most diseases can be treated to an extent. However, there are some rare diseases, the awareness of which might help healthcare professionals, scientists, and governments to come up with treatments. Here we will look at five rare diseases that require more public understanding, funds, and scientific research.

  • Stoneman Syndrome

Stoneman Syndrome is also known as Fibrodysplasia ossificans progressive or FOP. It slowly spreads to tissues like tendons and muscles, and later to ligaments and bones. The disorder’s progression starts from the neck and moves to the shoulders. Gradually, the disease spreads to the lower part of the human body, ending at the legs. As the joints will be badly affected, it will restrict the body’s movements. The patient will even find it hard to open their mouth, resulting in difficulty speaking and eating.

A process of heterotopic ossification will take place, where another skeleton grows above the first one. It will be permanent and cannot be removed surgically because it triggers bone growth immensely because of the procedure’s invasiveness. People with this disease will no longer have mobility even after minor accidents or falls due to the stimulation of bone growth.

  • Alice In Wonderland Syndrome

The name of this disorder is derived from Lewis Carroll’s famous novel Alice in Wonderland because the disease is similar to the events Alice experiences in the novel. Transformed body image is the most notable and disturbing symptom of this disease. The patient will be confused about the shape and size of their body. Body parts like hands and head will shrink more than usual. Visual perception distortion is another symptom. The patient will see other things also in different shapes and sizes.

  • Gilford Progeria Syndrome

Gilford Progeria Syndrome or HGPS is a very rare genetic disorder that has symptoms similar to aging at a young age. The chances for such patients are only up to their early twenties or mid-teens. The disease will bring a dramatic aging appearance from their childhood.

  • Alkaptonuria

Alkaptonuria, also known as “black urine disease”, doesn’t allow the body to break down fully into amino acids called phenylalanine and tyrosine. It will result in homogentisic acid, a chemical, in the body. Thus, the body parts and urine will become dark in color, gradually leading to many problems. It will affect the body parts like tendons, cartilage, nails, bones, heart, and ears.

  • Chronic Focal Encephalitis

Chronic Focal Encephalitis is also known as Rasmussen’s Encephalitis. It is seen usually in children below 10 years with severe and frequent seizures, paralysis of the body side, loss of speech and motor skills, brain inflammation, as well as mental deterioration. The disease will result in the removal or destruction of the affected brain part of the child. Even though treatments are available to reduce brain inflammation at severe stages, no ultimate treatment is available to avoid the disability.