Contents:
- Medical Video: Skeletal dysplasia: A rare story about a rare disease
- What are some rare diseases?
- Some rare diseases that you can find
- 1. Microcephaly
- 2. Progressive Multifocal Leukoencephalopathy
- 3. Landau Kleffner syndrome
- 4. Neuromyelitis optica
Medical Video: Skeletal dysplasia: A rare story about a rare disease
Every end of February is celebrated as a Rare Disease Day, since 2008. But in Indonesia, the rare disease day is the first time commemorated on February 28, 2016 pioneered by Indonesia Rare Disorders, a support group for families with children with rare diseases. The warning of rare diseases day aims to provide information and provide awareness to the general public about rare diseases.
What are some rare diseases?
In the European Union, a disease is said to be a rare disease if the number of cases is not more than 0.5% of the population. In the United States, a disease is said to be a rare disease if the number of cases is not more than 0.75% of the population. In Taiwan, a disease is said to be a rare disease if the number of cases is not more than 0.1% of the population.
While in Indonesia, according to Cipto Mangunkusumo Hospital (RSCM), a disease is said to be a rare disease if the number of cases is less than 1 per 2,000 people in one population. But whatever the definition in each country, in general, rare diseases are very few sufferers of disease.
In fact, 80 percent of rare diseases are usually caused by genetic factors or because of genetic changes. Rare diseases are often chronic diseases or physical deformities. Rare diseases also often cannot be properly diagnosed because rare diseases are complex diseases.
Some rare diseases that you can find
At present there are hundreds of diseases that are included in rare diseases. If you want to find out in depth, you can visit the site raredisease.org. Here are some of the rarest diseases you need to know.
1. Microcephaly
Microcephaly is a very rare condition and can be seen immediately when the baby is born or even in the womb. With microcephaly, the brain cannot develop properly, or even stop growing at all. As a result, the baby's head will be smaller than the normal baby's head at birth.
Usually, someone who experiences microcephaly will experience mental retardation and will have problems such as hyperactivity, stunting, seizures, balance disorders, speech and motor disorders, etc.
2. Progressive Multifocal Leukoencephalopathy
This disease is a rare viral disease that causes inflammation in certain parts of the brain. JC virus is a virus that causes this disease. Although this disease is still very rare, however, patients with immune deficiencies have a greater risk of getting this disease. At least one out of every 200,000 people is certain to have this condition.
One way to prevent this infection is to increase the body's immunity so that it is not susceptible to JC virus causing this disease.
3. Landau Kleffner syndrome
Landau Kleffner syndrome is a form of epilepsy that can affect a child's ability to use language. Usually, sufferers will experience abnormal brain activity, especially during sleep. Most people who experience this syndrome will also experience seizures. This condition is characterized by difficulties in behavior and social interaction in children.
Unfortunately, the cause of this disease is unknown. At least one out of every 150,000 people from birth can experience this syndrome.
4. Neuromyelitis optica
This disease is also known as disease Devic. Neuromyelitis optica is a neurological condition that can affect the optic nerve and spinal cord. This disease is usually characterized by reduced sharpness of the sense of sight. Muscles can also be much weaker, making it difficult for someone suffering from this disease to move freely.
