Rare Diseases – You’ve Never Heard of These Diseases

Rare diseases are those which are potentially life-threatening and permanently disabling. Due to a lack of scientific research, many rare diseases have no treatments or therapies. There are many causes of rare diseases. Many rare diseases are hereditary. The most common cause is chromosome or gene mutations. You may notice genetic changes that can cause disease in certain situations.

It is important to spread awareness because it allows people to identify if they have any conditions that can be treated. Millions of people are affected by rare diseases, and there is hope for them. Rare diseases include tumours, auto-immune conditions, metabolic abnormalities and hereditary defects.

The National Institutes of Health has made many efforts to increase the number of treatments and diagnostics available for rare diseases. Despite all these efforts, many rare diseases are still not being treated or diagnosed.

Rare Conditions: An Overview

Rare diseases are those that have one or more of these symptoms:

  • Complex (less than 1 in 2,000 people with this condition).
  • It can be life-threatening or permanently debilitating and requires extraordinary coordination to manage.

There are between 5,000 and 8,000 rare diseases. Most of them have a genetic basis. Although there are many rare diseases, most share a few commonalities, like the fact that they occur frequently.

  • It is impossible to avoid
  • Have no cure
  • There is no cure.

There is no standard for what qualifies as a rare disease. A rare illness may not be common in one area or even among a single group of people. New research has shown that about 4% of the world’s population is affected by 3585 rare diseases.

Top Five Rare Diseases

Stoneman Syndrome

Fibrodysplasia progressive (FOP), also known as Stoneman Syndrome, is a condition where connective tissue like muscles, tendons and ligaments gradually becomes bone.

Frequency Occurrence:

One in two million


  • Torticollis is a condition where the neck twists at an uncomfortable angle. The first symptoms are a pain in the soft tissue mass/nodules around the neck and head. These early signs include swelling of complex and soft tissues and ossifications in different body parts.
  • Depending on how involved they are, they can cause muscle abnormalities or restrictions.

Some research states that MS is caused by the immune system damaging the myelin sheath, or cells that make and maintain this sheath. Global multiple sclerosis prevalence is estimated at 35.9 [95%CI: 35.87, 35.95] for every 100,000 people.

The sheath can become inflamed or injured, and nerve fibres that it supports are also affected. This causes scarring in different parts of the body. MS and other demyelinating diseases include vision loss, muscle weakness, muscle spasms and discomfort.

Frequency Occurrence:

One in a million


  • Vision loss
  • Muscle weakness
  • Stiffness in the muscles
  • Muscle spasms
  • Modifications in the functioning of your bladder and bowels
  • Sensory changes

There is no treatment for demyelinating conditions or their development. Every person’s symptoms are unique. It is important to seek therapy as soon as you can. The treatment focuses on treating the symptoms and changing the course of the disorder.

Health experts might recommend various medication therapies depending on the severity of your condition. There are many options to treat symptoms, including physical therapy, muscle relaxants and pain and tiredness medications. Talk to your doctor about the best treatment options for your condition.


Alkaptonuria is sometimes called “black urine disease, ” a rare genetic condition. It prevents the body from properly breaking down two amino acids, Tyrosine and Phenylalanine. Homogenetic acid is a compound that causes the body’s accumulation. It can also discolour urine and other body areas, leading to various problems over time.

Studies show that amino acids are usually broken down through chemical processes. Homogenetic acid, a chemical created during the process of alkaptonuria, cannot be further broken down. A defective enzyme causes it. This is due to a genetic disorder that renders the enzyme defective. The defective enzyme cannot break down homogentisic acids, which causes it to increase in our bodies.

Over many years, Homogentisic acids build up in tissues throughout the body. It can form in almost every body part, including cartilage and tendons, bones, nails, ears, and even the heart. It can cause tissue darkening and other complications.

Frequency Occurrence:

One in a million

Signs and Symptoms:

  • Black blotches appear on the sclera of your eyes (white).
  • Discoloured and thickened ear cartilage
  • Blue speckles on the skin, particularly near the sweat glands, can cause skin discolouration
  • Wear dark-coloured or sweat-stains clothing
  • Black earwax
  • Stones in the prostate and kidneys

Alkaptonuria, a chronic disease, is not currently treated. According to a source, a drug called Nitisinone looks promising. The body’s homogentisic acid levels are lower with Nitisinone.

A low-protein diet can reduce the chance of unwelcome side effects when taking Nitisinone to treat alkaptonuria in adults. This is something that your doctor or dietician will be able to help you with. You may also be able to manage your symptoms with medications or lifestyle changes.

A reduced protein intake may be helpful if the disease is detected in childhood. This will help delay the development of the illness by lowering the levels of phenylalanine and tyrosine.

Alkaptonuria can make it appear that exercise may worsen your condition. Regular mild exercise can help strengthen your joints and muscles. You can also relax, lose weight and improve your posture through exercise, which will help relieve your symptoms.

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