Flu, stomach acid, fever, diabetes, and hypertension is the term that is certainly not a foreign and often you hear. The rows of the name of the disease is indeed quite popular and also a lot of experienced people. But you know what? It turns out that there are still many types of other diseases that exist in the world, both of which occur frequently and are included in the category of a rare disease.
In fact, there are many types of rare diseases that have a name and its own unique symptoms even sounded strange. One of them is a disease of the Riley-Day syndrome or known as Familial dysautonomia or hereditary sensory neuropathy type 1 (HSN). Types of this disease can make people experience it immune from the pain
Try to pinch your hand, what do you feel? Pain. Try near the candles are lit, what do you feel? You will feel the warm and hot, if the fingers touch the hot fire of the candle.
But what if you can’t feel heat or pain? Maybe you will not withdraw your hand from the flame of the candle.
Although not felt the pain and the heat, the fire of the candle will still damage your hands. This is perceived by the patients with Familial dysautonomia or commonly known as Riley-Day syndrome.
Riley-Day syndrome is a genetic mutation derivatives that affect the nervous system in the human body. A rare condition that this one leads to disturbances in the autonomic nervous system connecting the brain and spinal cord to the muscles and cells detection thrill the senses. Simply put, a disorder that occurs this causes the body to lose the ability to recognize touch, smell, and pain. In fact, this disease can make the infected not can not feel pain at all aka immune to pain.
As reported by Harvard Health Publishing, Riley-Day syndrome is a disease of autosomal recessive that occur due to mutations in a gene called IKBKAP (gene producing a protein key to the nerves) that was revealed at the Jews the background of Eastern European (Ashkenazi).
Symptoms Of Riley-Day
As the disease that is derivative, this condition can only occur if the genes derived from both parents is relevant. People who experience Riley-Day syndrome usually will also show the following symptoms:
• The development of the bodies that were stunted (child or children)
• Concentration and memory deteriorating
• Excessive fatigue during exercise
• Difficult to control the bladder so that the frequent urination
• Decreased reflexes of the body
• A lot of injuries the body is not recognized
• Difficulty swallowing
• Difficulty speaking or slurred speech
• Frequent vomiting or choking
• Don’t feel hot or cold
• No tears when crying
• Do not feel pain and pressure on the skin
• Breathing control is bad so often unconscious while asleep
• The surface of the tongue that is pale and unusual, as well as the lack of the sense of taste and the decline of the sense of taste
• Constipation or diarrhea
• Seizures
After 3 years, most children who suffer from this syndrome experience a crisis autonomous. This condition is characterized by episodes of vomiting that accompanied the blood pressure is very high, heart beating fast, fever, and sweating.
Treatment Of Riley-Day
Usually, people with this disorder will receive treatment in the form of provision of medicines. The goal is to control the vomiting and seizures that became one of the symptoms of this disease.
In addition, the treatment is also needed to address other symptoms that often accompany this syndrome. For example, the consumption of milk or specific medicine to prevent diseases related to gastric acid. Drugs to prevent dry eye and reduce the risk of injury is also needed by people who experience Riley-Day Syndrome.
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