When it comes to rare diseases, what may sound familiar is elephantiasis or Zika. However, some of these existing lists are so rare that you may have never heard of them before. In fact, the majority of these diseases have no treatment options and still confuse doctors around the world.
Rare Disease in The World
Of the many rare diseases in the world, here are some of them:
Mucopolysaccharidosis type I, type II, type III, type IV A, type VI, and type VIII
Mucopolysaccharidosis (MPS) is a group of inherited metabolic disorders caused by reducing lysosome enzymes that metabolize glycosaminoglycans (GAG).
These long-chain carbohydrates are present in cells to form bone, cartilage, cornea, skin, and other connective tissue.
There are currently 7 types of MPS with their own subtypes.
Symptoms of MPS are not noticeable when the patient is born and usually only begin to appear when the patient is a 1 year old.
Early symptoms can be nonspecific, such as:
- Ear infection
- Umbilical hernia.
As time goes on, it begins to appear a buildup of GAG throughout the body.
Symptoms that can then occur in the patient are:
- The face looks rougher
- Forehead appears to stand out
- The nose stick looks snub
- The tongue grows
Meanwhile, the buildup of GAG in the heart valves can cause impaired cardiac contractility. While the buildup of GAG in the airway, can cause obstructive sleep apnea.
The entire joint will also be affected, causing impaired joint mobility.
Alien Hand Syndrome
If you’ve ever had a history of stroke, cancer, or a brain disorder, you should be wary of alien hand syndrome. Alien hand syndrome has the main symptoms experienced by sufferers, namely difficulty controlling both hands.
Sufferers experience both hands moving or even cannot be moved. Not only on the hands, sometimes alien hand syndrome causes other limbs to be difficult to control or move.
Adams Oliver Syndrome
There is a syndrome that is quite rare, namely Adams Oliver syndrome. An Adams Oliver syndrome is a very rare congenital disorder that attacks parts of the scalp, finger and toe abnormalities. The conditions experienced by each sufferer will be different, some are fairly mild to very severe. In babies who have the Adams Oliver syndrome since birth, symptoms are already seen on the part of the scalp that appears scars without hair.
Fibrodysplasia Ossificans Progressiva: Growing new bone in the body
Fibrodysplasia Ossificans Progressiva (FOP) is the most bizarre, rare and painful genetic condition because it causes bones to grow where they shouldn’t. This strange disease is caused by a genetic mutation in the body’s immune system that serves to repair injuries. After injury, new bones will grow and develop throughout the joints can even replace muscles, tendons, ligaments and other connective tissue that should not be overgrown with bones, so this disease will make sufferers become stiff like a statue of a living mannequin.
This rare disease interferes with collagen synthesis, thus causing fragility of blood vessels, overly flexible joints, dislocations, sprains, shape changes in tissues, and other harmful consequences. The skin of people with Ehlers-Danlos syndrome is usually elastic and very easily damaged and injured.
This disease has several types, ranging from moderate to severe. In general, if the disease does not affect the blood vessels, it will not interfere with the life expectancy of the sufferer. Ehlers-Danlos syndrome has not yet found a cure. However, if the sufferer receives proper physiotherapy treatment, then the negative impact of this disease can be reduced.
Auto brewery syndrome
Some people can experience hangovers and poisoning without drinking large amounts of alco**hol or even without consuming alco**hol at all. This condition is called an auto brewery syndrome, in which pure alco**hol (ethanol) is produced in a person’s intestines after eating carbohydrate-rich foods.
Excess yeast Saccharomyces cerevisiae in the intestine becomes the main cause of fermentation that produces ethanol. People suffering from this strange disease can also feel symptoms, such as belching, chronic fatigue, dizziness, disorientation, and irritable bowel syndrome.