Top 10 genetic disorders and diseases

People’s health is a major factor in enjoying mental well-being and happiness. However, there are diseases that affect us, some more serious and others less, which 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 the main genetic diseases and disorders.

The most common genetic diseases

Some diseases have a genetic origin and are hereditary. Here are the main ones.

1. Huntington’s Korea

Huntington’s disease is a genetic, incurable disease characterized by the degeneration of neurons and cells central nervous system and causes various symptoms of a physical, cognitive and emotional nature. Because it is not treated, it can end up causing the death of the individual, usually after 10 to 25 years.

It is an autosomal dominant disorder, which means children are 50% more likely to develop it and pass it on to their offspring. Treatment is aimed at limiting the progression of the disease and, although it can sometimes be discussed in childhood, it usually begins between the ages of 30 and 40. Symptoms include uncontrolled movements, difficulty swallowing, difficulty walking, memory loss, and difficulty speaking. Death can be caused by drowning, pneumonia and heart failure.

    2. Cystic fibrosis

    Cystic Fibrosis Is On This List For Being One Of The Most Common Hereditary Conditions and that goes through 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: difficulty breathing, digestive and reproductive problems. For a child to develop the disease, both parents must be carriers. Then there is a 1 in 4 chance for him to be in pain.

    3. Down syndrome

    Down syndrome, also called trisomy 21, affects about 1 in 800 to 1,000 babies. It is a condition that is characterized by the person being born with another chromosome. Chromosomes contain hundreds, if not thousands of genes, which carry the information that determines a person’s traits and characteristics.

    This disorder causes delays in a person’s mental development, although it is manifested in other physical symptoms as well, as those affected have peculiar facial features, decreased muscle tone, abnormalities in the heart and heart. digestive system.

    4. Duchenne muscular dystrophy

    Symptoms of this disease usually appear before the age of 6. This is a genetic disease 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 sitting in a chair. Its cause is 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 go beyond adolescence. Today, within their limits, they can study a career, work, get married and have children.

    5. Fragile X syndrome

    Fragile X syndrome or Martin-Bell syndrome is the second leading cause of genetic delay, Which is linked to the X chromosome. The symptoms produced by this syndrome can affect different areas, especially behavior and cognition, and cause metabolic alterations. It is more common in men, although it can also affect women.

    • You can read more about this syndrome in our article: “Fragile X Syndrome: Causes, Symptoms and Treatment”

    6. Sickle cell anemia (FAC)

    This disease affects the red blood cells, which become deformed, impairing their functionality. and, therefore, to its success in transporting oxygen. It usually causes episodes of sharp pain (abdominal pain, chest pain, and bone pain), called sickle cell crisis. The body itself also destroys these cells, causing anemia.

    7. Becker’s muscular dystrophy

    Another type of muscular dystrophy of genetic origin and with degenerative consequences that affect 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, muscle weakness, etc. However, the muscle weakness of the upper body is more severe in the disease, and the weakening of the lower body is progressively slower. People with this disease usually do not need a wheelchair until they are around 25 years old.

    8. Celiac disease

    This condition, of genetic origin, affects the digestive tract of those affected.. It is estimated that 1% of the population suffers from this disease, which causes the immune system to react aggressively in people with celiac disease when gluten, a protein found in grains, 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 claim to feel 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 is malformed when it is synthesized by red blood cells. The most common beta thalassemia is the most common and least common alpha thalassemia.

    It causes anemia and therefore fatigue, shortness of breath, inflammation of the arm, bone pain and brittle 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 goes through an extra full copy of the chromosome in pair 18. Affected people usually have slow growth before birth (intrauterine growth retardation) and low birth weight, in addition to heart defects and abnormalities. other organs that develop before birth. The facial features are characterized by a small jaw and a small mouth, and those affected tend to have a closed fist.

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