What are genetic diseases?
Genetic diseases are caused by errors in DNA, in sequences called “genes” or sometimes in chromosomes, which are large clusters of genes.
Genetic diseases are ailments that have their origin in an alteration of a gene. They can be inherited or not. Among the most common genetic diseases are:
- Cystic fibrosis
- Huntington’s disease
- Down’s Syndrome
- Duchenne Muscular Dystrophy
- Sickle Cell Anemia
What are the symptoms of genetic diseases?
Symptoms vary greatly depending on the disease, as it can affect any system of the body. Of the main diseases mentioned, the symptoms are:
- Cystic fibrosis: stunted growth, abdominal pain from severe constipation, cough or increased mucus, malformed fingers.
- Huntington’s disease: abnormal movements, hallucinations, antisocial behaviors, moodiness, irritability, paranoia, psychosis, restlessness or impatience.
- Down syndrome: flattened nose, excess skin on the nape of the neck, single crease in the palm of the hand, small mouth and ears, upward slanting eyes.
- Duchenne Muscular Dystrophy: fatigue, intellectual disability, muscle pain, difficulty walking.
- Sickle cell anemia: painful swelling in hands and feet, fatigue and malaise, yellowing of the skin.
Tests for genetic diseases
Consists of tests of blood and other tissues; there are more than two thousand different tests. Thanks to these it is possible to find genes with diseases that can be transmitted to children hereditarily. It can also be used to determine the ideal type of treatment for the sick person.
What are the causes of genetic diseases?
There may be several causes:
- Mutation, such as cancer.
- Trisomy of chromosomes, such as Down syndrome.
- Deletion of a region of a chromosome or an entire chromosome, such as Turner syndrome.
- Genes inherited from the parents, which occurs in hereditary diseases.
What is the treatment of genetic diseases?
The treatment can be varied. In some cases, special diets are used to prevent the accumulation of toxic compounds in the body. Treatment can also be done by diverting or blocking the pathway of certain chemicals.
Another treatment that is still under investigation would consist of replacing the defective genetic material with normal material.
What specialist treats it?
Genetic diseases are usually treated by specialized pediatricians.