People’s health is a main factor in enjoying mental well-being and happiness. However, there are diseases that affect us, some more serious and others less, and that have a strong impact on our lives. Some of these diseases are caused by viruses, others by our bad habits and others by genetic causes.
In this article we have made a list of major genetic diseases and disorders
Some diseases have a genetic origin and are hereditary. Below we show you the main ones.
1. Huntington’s chorea
Huntington’s chorea is a genetic and incurable disease characterized by the degeneration of neurons and cells of the central nervous system and causes different physical, cognitive and emotional symptoms. Since there is no cure, it can end up causing the death of the individual, generally after between 10 and 25 years.
It is an autosomal dominant disorder, which means that children have a 50% chance of developing it and passing it on to their offspring. Treatment focuses on limiting the progression of the disease, and although it can sometimes occur in childhood, in general its onset usually occurs between the ages of 30 and 40. Its symptoms include uncontrolled movements, difficulty swallowing, problems walking, memory loss, and speech difficulties. Death can occur from drowning, pneumonia and heart failure.
Cystic fibrosis is on this list because it is one of the most common hereditary pathologies and that occurs due to the lack of a protein whose mission is to balance chloride in the body. Its symptoms, which can range from mild to severe, include: breathing difficulties, digestion and reproduction problems. For a child to develop the disease, both parents must be carriers. So, there is a 1 in 4 chance that he will suffer from it.
3. Down syndrome
Down syndrome, also called trisomy 21, affects about 1 in every 800 to 1,000 newborn babies It is a condition that is characterized because the person is born with an extra chromosome. Chromosomes contain hundreds or even thousands of genes, which carry the information that determines a person’s traits and characteristics.
This disorder causes delays in the way a person develops, mentally, although it also manifests with other physical symptoms, as those affected have particular facial characteristics, decreased muscle tone, heart and digestive system defects.
4. Duchenne Muscular Dystrophy
The symptoms of this disease usually begin before the age of 6 It is a genetic disorder and type of muscular dystrophy characterized by progressive muscle degeneration and weakness, which begins in the legs and then gradually progresses to the upper body, leaving the person chair bound. It is caused by a deficiency of dystrophin, a protein that helps keep muscle cells intact.
The disease mainly affects boys, but in rare cases it can affect girls. Until recently, the life expectancy of these people was very low, they did not exceed adolescence. Today, within their limitations, they can study careers, work, get married and have children.
Fragile X syndrome or Martin-Bell syndrome is the second cause of mental retardation due to genetic reasons, which is linked to the X chromosome. The symptoms caused by this syndrome can affect different areas, especially behavior and cognition, and cause metabolic alterations. It is more common in men, although it can affect women as well.
6. Sickle Cell Anemia (SCD)
This disease affects red blood cells, which deform, altering their functionality and, therefore, to its success in transporting oxygen. It usually causes acute episodes of pain (abdominal, chest, and bone pain), which are called sickle cell crisis. The body itself also destroys these cells, causing anemia.
7. Becker Muscular Dystrophy
Another type of muscular dystrophy of genetic origin and with degenerative consequences that affect voluntary muscles It receives this name from the first person who described it, Dr. Peter Emil Becker, in the 1950s. Just as in Muscular Dystrophy of
Duchenne, this disease causes fatigue, weakening of muscles, etc. However, muscle weakness of the upper body is more severe in the disease and weakening of the lower body is progressively slower. People with this condition usually do not need a wheelchair until they are approximately 25 years old.
8. Celiac disease
This condition, of genetic origin, affects the digestive system of the affected person It is estimated that 1% of the population suffers from this disease, which causes the immune system of people with celiac disease to react aggressively when gluten, a protein present in cereals, circulates through the digestive tract. This disease should not be confused with gluten intolerance, because although they are related, they are not the same. Gluten intolerance, in fact, is not a disease; However, some people report feeling better if they do not consume this protein.
Thalassemias are a group of inherited blood disorders in which hemoglobin, the oxygen-carrying molecule, presents a malformation when synthesized by red blood cells. Beta-thalassemia is the most common, and alpha-thalassemia is the least common.
It causes anemia and therefore fatigue, shortness of breath, arm swelling, bone pain and weak bones. People with this condition have a poor appetite, dark urine, and jaundice (a yellowish discoloration of the skin or eyes; jaundice is a sign of liver dysfunction).
10. Edwards syndrome
This hereditary disease is also called Trisomy 18, and occurs due to an extra full copy of the chromosome on the 18th pair. Affected people usually have slow growth before birth (intrauterine growth retardation) and low birth weight, in addition to heart defects and abnormalities of other organs that occur. develop before birth. Facial features are characterized by a small jaw and mouth, and those affected often have a tendency to have a clenched fist.
