Genetic diseases are the origin.
Genetic diseases develop as a result of changes and damage to genes or chromosomal abnormalities. Disorders can occur in the genetic material passed on to offspring, or manifest themselves in the early stages of embryo development.
The possibilities of modern medicine are limited to the treatment of a small number of these types of diseases using gene therapy. Despite scientific research, in most cases of chronic genetic diseases, it is only possible to alleviate their symptoms.
Genetic diseases - who gets sick and when?
The presence of a defective gene in a chromosomal suit does not necessarily mean that we will get sick. In many cases, environmental factors determine the activation of a mutation.
This is especially true for diseases that manifest themselves later in life. Knowledge of the risk factors for the development of the disease and their avoidance in connection with a healthy lifestyle and systematic preventive examinations allows you to prevent the disease or identify it at an early stage. This gives you a great chance to recover.
The most common genetic diseases.
Scientific studies have shown that defective genes cause diseases such as diabetes, epilepsy, phenylketonuria, hemophilia, cystic fibrosis, Huntington's chorea and some malignant neoplasms. Genetic factors are also responsible for numerous congenital malformations, such as Down syndrome.
Genetic diseases:
Phenylketonuria.
The disease is a deficiency of an enzyme that is responsible for the conversion of phenylalanine into another important amino acid, tyrosine. Consequently, excess phenylalanine accumulates in the body, which causes irreversible damage to the brain.
A painful mutation occurs on average every 10,000 births. The main symptoms of phenylketonuria are motor dysfunction and mental retardation. In addition, an insufficient amount of pigment causes light coloring of the skin, hair and iris.
Early detection of the disease is very important, as it minimizes its consequences. For this purpose, preventive examinations are carried out in all newborns. People with phenylketonuria should follow a special diet that contains a small amount of phenylalanine.
Hemophilia.
It is a genetic disease associated with blood clotting disorders. In the vast majority of cases, hemophilia is related to gender - mutations occur on the X chromosome.
This means that the girl will have hemophilia if she receives a copy of the defective chromosome from both parents. If one of the sex chromosomes does not contain a mutation, the girl will be a carrier of the disease - she will be able to pass it on to her offspring. In turn, the boy will suffer from hemophilia if he inherits the X chromosome from the carrier mother. The sons of a man with hemophilia will be healthy if the mother does not carry the damaged gene.
The treatment of hemophilia includes the treatment of symptoms (without causation). Coagulation factor concentrates and bleeding-reducing drugs are used. Although hemophilia cannot be cured, it is important to control its course and reduce complications.
Cystic fibrosis.
Cystic fibrosis, also known as cystic fibrosis, occurs once every 2,500 births and is one of the most common genetic diseases in humans. The disease is responsible for the mutation of the CFTR gene lying on chromosome 7. Cystic fibrosis is a chronic systemic disease that causes changes in organs with mucous glands (overproduction of mucus).
What are the symptoms of cystic fibrosis? Most often, this causes disorders of the respiratory system and digestive tract. Repeated inflammation leads to lung damage, which leads to worsening respiratory failure. In addition, chronic insufficiency of pancreatic enzymes causes digestive and absorption disorders, and can also cause secondary diabetes.
In addition, cystic fibrosis is accompanied by:
chronic and paroxysmal cough, hemoptysis, recurrent infections of Staphylococcus aureus and blue oil (Pseudomonas aeruginosa), gastrointestinal symptoms.
Treatment of cystic fibrosis is limited to reducing symptoms, which allows patients to improve their living conditions.
Hereditary tumors.
Genetic factors account for about 1% of all cancers. However, hereditary disease tendencies should not be underestimated, especially since they are usually malignant tumors. The development of research in the field of oncology allows us to better understand the cause of these diseases. From time to time, scientists report the discovery of genes responsible for various types of cancer, including those that have not yet been associated with the possibility of their inheritance.
The most well-known genetic cancers include:
Huntington's chorea.
Attacks the central nervous system. The cause of the disease is a mutation in the gene encoding huntyngtin. The abnormal protein contributes to the death of nerve cells. Unfortunately, it is still not known how.
The mechanism of inheritance of Huntington's chorea leads to the fact that statistically half of the descendants of a sick person will also have a defective gene. Huntington's chorea appears in adulthood (35-50 years old). In Poland, it affects one in 15,000 people. Patients lived an average of 15-20 years from the moment of diagnosis.
Diagnosis is possible based on clinical symptoms:
trembling of the limbs, decreased muscle tone, uncontrolled movements, dementia, mental disorders, speech and swallowing disorders.
Huntington's chorea progresses slowly, leading to the patient's complete dependence on the care and help of other people. Effective treatments for chorea have not yet been developed. Only symptomatic treatment is possible: relief of some symptoms of the disease and an attempt to slow its development.
Down Syndrome
This is not a disease, but a congenital defect syndrome caused by the presence of an additional chromosome 21. Children with Down syndrome are born once every 800-1000 births. The probability of having a child with this disease increases with the age of the mother (diagnosis of Down syndrome in children).
People with Down syndrome have lower intellectual abilities than people with a normal chromosomal suit - most often from mild to moderate mental retardation. Usually, people with Down syndrome cope in everyday life only from time to time with the help of a caregiver, for example, in the office. They also perform some professions. It is only in the case of a significant decrease in intellectual abilities that it is necessary to help even with such simple actions as dressing, hygiene and eating.
Down syndrome can be recognized by its characteristic features of appearance: almond-shaped eyes, protruding tongue, short limbs and weakened muscle tone. People with Down syndrome are more susceptible to certain infections (especially ear infections), thyroid diseases, and reflux. Congenital heart defects are also more common in them.
Children with Down syndrome develop more slowly than healthy peers, and their upbringing requires special care. However, thanks to the efforts of parents and appropriate forms of education and rehabilitation undertaken already in early childhood, they can achieve a satisfactory degree of mental development. 1xbet bonus upon registration on the website. The company guarantees a 100% bonus for the first deposit. In order to receive the welcome bonus, you must use the 1xBet promo code during registration on the official website of the 1xbet bookmaker. The 1xbet bonus code is a combination of Latin letters and numbers that, when used, allows you to receive gifts and certain advantages. Like any other bonus, it needs to be "played through" before you can withdraw it. You can place bets of any amount on 1xbet, but only accumulators with more than three events will count towards the promotion.