What are Hereditary Diseases?
Knowing the existing hereditary diseases in the mother or father before having a baby is a very important issue to take precautions against various problems that may occur in the baby in the future. Today, thanks to developing technology, many hereditary diseases can be intervened in the womb and it is possible to treat them with early diagnosis after the baby is born.
What are Congenital Inherited Disorders?
genetic diseases; These are diseases caused by gene defects passed from mother and father to the baby or by mutations in the DNA of the baby to be born due to the chromosome. It occurs due to a lack of carrier protein or enzyme, which plays a very important role in the formation of fat, protein and carbohydrates.
Today, genes mutate due to increased exposure to radiation, carcinogens, environmental pollution and various viruses. Each of the 30 newborn babies is born with a genetic abnormality.
What Are the Symptoms of a Genetic Disease?
There are many types of genetic diseases. Therefore, there are many symptoms of genetic diseases.
For example; In a genetic disease that affects our muscles, symptoms such as fatigue and weakness in the muscles are also seen, while in a genetic disease that affects the liver, symptoms such as bilirubin, liver failure or elevation of other enzymes, or a mutation in cancer genes, may cancer are seen in the tissues carrying the mutation.
Childhood is manifested in some genetic diseases due to abnormal findings in the body, mental retardation and facial expression.
What are the treatment methods of genetic diseases?
Today, very few genetic diseases can be treated with gene therapy and some targeted drugs. In general, several surgeries may be recommended if treatment and referral for symptoms are necessary. Thanks to advancing technological developments, more and more treatment options for rare diseases are being developed nowadays.
Enzyme supplements make the treatment of genetic diseases significantly easier in genetic diseases with enzyme deficiency and gene therapies, as well as cystic fibrosis, smart drug options and DMD diseases used in cancer.
Can congenital genetic diseases be cured?
Certain diseases acquired genetically by the child are corrected by surgical intervention. In addition, depending on the condition of the disease, different methods of treatment, drug treatment and some treatments by different techniques can be applied to the people. The patient is observed during the treatment.
There are many types of congenital genetic diseases. Some genetic conditions don’t get better at all. However, a full genetic recovery is never expected.