Most Common Genetic Diseases

Some genetic diseases like Down syndrome are more common than others.

Genetic diseases occur when there is an alteration in one or more genes of the individual. This causes a disorder or certain condition that will prevent you from leading a completely normal life. However, as a society we are progressing more and more in trying to create an inclusive and diverse world.

Although there is currently no cure or prevention as such for genetic diseases, more and more research is being done in this field. Gene therapy has emerged as a possible solution to these disorders, but there is still much work to do.

In addition, experts have found that early detection is key to preventing the advance or evolution of these types of problems. There are many people in the world who suffer from different types of genetic diseases . We inform you about some common conditions in this medical field.

Cystic fibrosis

Cystic fibrosis is one of the most common and widespread inherited genetic disorders worldwide. A mutation in a gene causes a faulty protein to be produced and the balance of chloride in the body is disturbed. Consequently, the body produces a thick mucus that accumulates mainly in the respiratory tract.

As a result, important organs such as the lungs, intestines, pancreas, and liver are affected. This produces poor growth and infections, which during the first years of a person’s life can go unnoticed.

Huntington’s disease

Huntington’s disease (HD) is an autosomal dominant disorder. This means that parents have a 50% probability of transmitting it to their children and thus carry it from generation to generation.

This disease causes a degeneration of nerve cells in the brain and central nervous system. As a consequence, the person has trouble swallowing, uncontrolled movements (Korea), and changing behaviors. In addition to memory loss, difficulty walking and maintaining balance.

It usually appears when the person is in their 30s and 40s. In rare cases, it manifests itself from childhood.

Down’s Syndrome

There is no doubt that it is one of the best known and most common genetic diseases in the world.

It is known as trisomy 21 and occurs when an extra copy of chromosome 21 is generated.  In this way, we have three chromosomes 21, instead of 2. It usually affects one in every thousand newborns.

Babies with this disease often have decreased facial muscle tone and delays. They can also suffer from heart and digestive system problems.

Duchenne muscular dystrophy

Duchenne Muscular Dystrophy usually appears around the age of 6, gradually developing from fatigue and weakness in the muscles. This begins with the legs and progresses to the upper body.

Children with this disease often have problems with the heart and respiratory system. They may also have a chest-back deformity and potential mental retardation.

Celiac Disease

Celiac disease is a malabsorption syndrome that affects the digestive system, making the person intolerant to gluten. It is caused by various factors, including dietary, environmental, and genetic factors. It occurs in individuals who are genetically predisposed to the HLA-DQ2 and HLA-DQ8 alleles.

Patients suffering from this pathology are unable to digest any food or product that contains gluten, that is, those that are made from wheat and other cereals such as rye, barley, oats and any of their varieties (kamut, spelled, etc. ).

It is very important to diagnose this disease in time. If not controlled, it will lead to malnutrition and dehydration due to severe diarrhea, as well as abdominal pain.

Becker Muscular Dystrophy

Becker Muscular Dystrophy is a genetic disease similar to Duchenne Muscular Dystrophy. Its symptoms are very similar, but in this case they gradually appear more slowly.

Patients with this disease have fatigue, mental retardation and weakening of the muscles (especially in the legs). Upper body muscle weakness is more severe. It will take longer to present, so patients may be left in a wheelchair in their 25s or 30s.

Bloom syndrome

Bloom syndrome is a genetic condition that increases the risk that children will develop different types of cancers in their first years of life.

It can also lead to chronic lung disease and type 2 diabetes. Other indicators include small stature, sun-sensitive skin, swollen nose, high-pitched voice, and narrowed face.

This genetic disease is common in the ethnic group of Ashkenazi Jews. It affects 1 in 110 cases in which parents carry their modified DNA in the BLM gene, transmitting this condition to their children.