A study suggests that there are at least more than 7,000 rare diseases suffered by 8-10 percent of the population. However, the number of rare diseases is fairly inaccurate because many cases of rare diseases that are not reported by patients.
Of the many rare diseases that exist in the world, here are some rare diseases that are often encountered:
- Riley Day Syndrome (RD) or Immune to Pain
This rare disease occurs due to a congenital abnormality in the nervous system so that the nervous system can not work properly. However, half of infants born with Riley Day syndrome (RD) can live up to age 30.
Symptoms of RD sufferers include decreased sense of taste, dry eyes, diarrhea, inability to feel pain and changes in temperature, tears that are small when crying, fever, can not walk properly, pneumonia, seizures, to sweaty body while eating.
To overcome the symptoms of RD, patients can be given medicines to control vomiting and seizures, administration of drugs to prevent dry eyes, chest therapy, formula consumption to prevent gastric acid (GERD), scoliosis surgery, to avoid injury.
- Xeroderma pigmentosum (XP)
Xeroderma pigmentosum (XP) can only be found in 1 of the 250,000 people in the world. This disease can already be detected since the baby, even before birth. Patients with XP will experience excessive sensitivity to sunlight or UV rays.
In infants with xeroderma pigmentosum, characterized by the appearance of spots on sun-exposed areas, such as face, neck, hands, and feet. Exposure to sunlight and UV can cause pain and skin burns even if only briefly and long duration.
Therefore, XP patients outdoors are encouraged to always use sunscreen cream, wearing long-sleeved pants and shirts, wide caps, and UV glasses all the time. As for indoors, it is advisable to avoid sitting near the window and the use of lights that emit UV rays, such as halogen lamps.
- Old Baby or Progeria
One of the rare diseases that may be experienced only 1 of 4 million birth rates is progeria. This disease occurs because of progressive genetic disorders in infants that cause rapid aging of the body. Progeria is not an inherited disease. In the first year, infants with progeria will experience hair loss. Growth will also decline sharply even though the motor development and his intellectual remain normal.
Other symptoms are marked by slowing of height and weight growth, narrowed face shape, prominent eyes, diminished jaw, visible blood vessels, delayed tooth formation, loud voice, hearing loss, loss of muscle mass, brittle bones, to stiff joints.
Diseases usually experienced by a 50-year-old person can also be experienced by infants with progeria, such as hardening of the arteries, bone disease and heart disease. Heart attacks and strokes are even suspected to be the cause of death of progeria sufferers.
Until now, there is no cure for this disease, but experts have found a kind of cancer drug FTIS (inhibitor farnesyltransferase) which is useful in repairing damaged cells. Other treatments that can be done is the provision of cholesterol drugs and blood clotting, occupational therapy in order to stay mobile, coronary bypass surgery or angioplasty to slow the progression of heart disease. In addition to medical measures, infants with progeria should also consume plenty of water to prevent dehydration, especially during illness.
- Alien Hand Syndrome
The body will control the movement on the body, but in people with this syndrome, the hand can move by itself unnoticed. This syndrome will usually appear after a person has experienced trauma to the brain, postoperative brain, infection of the brain, or suffer a stroke.
Until now, no treatment can be given. Patients are advised to hold an object as a form of anticipation of movements that are not controlled.
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