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What are rare diseases? These are those that have a low incidence in the population, that is, they affect a very limited number of people. A disease is considered rare when it affects only less than 5 people in every 10,000 inhabitants.
Although few people suffer from a specific rare disease, there are many who are considered as such, in fact, according to the World Health Organization, there are about 7000 diseases worldwide that affect 7% of children and adults around the world.
The anguish of parents of children with rare diseases is great, since there are few treatments or research for them and sometimes they tend to be isolated. However, 'they must try to connect with others', says Paloma Tejada, communications director of the European Organization for Rare Diseases (EURORDIS), an alliance of patient organizations and people active in the field of diseases, non-governmental and led by the patients.
Do you know any rare disease? This is just a small list of 10 of them that usually affect the child from before birth, so they have a genetic component:
1. Moebius syndrome
The cranial nerves are not fully developed. These nerves are responsible for blinking, lateral eye movement and facial expressions causing paralysis in the face. This causes drooling, speech difficulties, and pronunciation problems.
2. Gilles de la Tourette syndrome
It is known as tic disease and children who suffer from it make rapid and involuntary movements of the muscles and involuntary production of noises and words.
3. Aase syndrome
It is hereditary and is characterized by anemia caused by an alteration in the bone marrow and associated with joint and skeletal malformations.
It is a difficulty for the blood to clot. Children who suffer from it have inherited it from their parents and there is no cure for it, although constant care and attention allow them to lead a normal life.
5. Cystic fibrosis
It is a chronic and hereditary disease that affects the glands that produce external secretions and causes a thickening of the mucus and the obstruction of the ducts that carry it. The lungs, the digestive system, the liver, the pancreas and the reproductive system are the organs most injured by this increase in viscosity.
It is due to defects in the synthesis and distribution of melanin. It is characterized by depigmentation of the skin, iris and retina. They are children who do not have pigment in their hair or in their eyes.
7. Prader Willi syndrome
It is present from birth and affects many parts of the body. Children with it are obese and have low muscle tone. It also affects mental capacity and the sex glands that do not produce hormones.
8. Rett syndrome
It mainly affects girls and manifests itself during the second year of life. Shows a delay in language acquisition and motor coordination.
9. Hutchinson-Gilford Progeria syndrome
It is a rare genetic disease characterized by accelerated aging of children. Children are born healthy but within a few months, the disease shows its side, giving the child the appearance of an old man.
Cerebrospinal fluid collects in the skull and puts increased pressure on brain tissues. This makes the head larger than usual.
Source: Orphanet, FEDER and WHO
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