Top 10 genetic disorders and diseases

The health of the people is a main factor to enjoy 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.

The most common genetic diseases

Some diseases have a genetic origin and are inherited. Here are 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, usually after 10 to 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 is focused on limiting the progression of the disease, and although it can sometimes comment in childhood, in general its onset usually occurs between the ages of 30 and 40. Its symptoms include uncontrolled movements, difficulty swallowing, trouble walking, memory loss, and speech difficulties. Death can occur from drowning, pneumonia, and heart failure.

• Related article: "Huntington's chorea: causes, symptoms, phases and treatment”

2. Cystic fibrosis

Cystic fibrosis is on this list because it is one of the most common inherited pathologies and what happens due to the lack of a protein whose mission is to balance the 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 for him to have it.

3. Down's Syndrome

Down syndrome, also called trisomy 21, affects about 1 in 800 to 1,000 newborn babies. It is a condition characterized by the fact that the person is born with an extra chromosome. Chromosomes contain hundreds or even thousands of genes, which carry the information that determines the traits and characteristics of the person.

This disorder causes delays in the way a person develops, mentally, although it also manifests with other symptoms physical, since those affected have particular facial characteristics, decreased muscle tone, heart and system defects digestive.

4. Duchenne muscular dystrophy

The symptoms of this disease usually have their onset before the age of 6. It is a genetic disorder and a 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 in chair. 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.

5. X fragile syndrome

Fragile X syndrome or Martin-Bell syndrome is the second leading cause of mental retardation for genetic reasons, which is linked to the X chromosome. The symptoms that this syndrome produces can affect different areas, especially behavior and cognition, and causes metabolic alterations. It is more common in men, although it can affect women as well.

• You can delve into this syndrome in our article: "Fragile X syndrome: causes, symptoms and treatment”

6. Sickle Cell Anemia (SCD)

This disease affects red blood cells, which deform them, 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 a 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 the voluntary muscles. It is named after the first person to describe it, Dr. Peter Emil Becker, in the 1950s. As in Muscular Dystrophy of

Duchenne, this disease causes fatigue, weakening of the muscles, etc. However, upper body muscle weakness is more severe in disease and lower body weakness is progressively slower. People with this condition usually do not need a wheelchair until around the age of 25.

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 reacts aggressively when gluten, a protein present in the cereals. This disease should not be confused with gluten intolerance, because despite being 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.

9. Thalassemias

Thalassemias are a group of inherited blood disorders in which hemoglobin, the oxygen-carrying molecule, presents a malformation when it is synthesized by red blood cells. The most common is beta-thalassemia is the most common, and the least, alpha-thalassemia.

It causes anemia and therefore fatigue, shortness of breath, arm swelling, bone pain, and weak bones. People with this condition have 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 inherited disease is also called Trisomy 18, and occurs by a complete additional copy of the chromosome in pair 18. Affected people usually have a slow growth before birth (intrauterine growth retardation) and low birth weight, as well as heart defects and abnormalities of other organs that develop before birth birth. Facial features are characterized by a small jaw and mouth, and those affected tend to have a closed fist.