Rare genetic diseases - the concept is very conditional, because the disease can practically not occur in any region, and in another area of the world systematically affect a large part of the population.
Diagnosis of genetic diseases
Hereditary diseases do not arise from the first day of life, they can manifest themselves only after a few years. Therefore, it is important to make timely analysis of a person's genetic diseases, the realization of which is possible both during pregnancy planning and during fetal development. There are several diagnostic methods:
- Biochemical. It allows to determine the presence of a group of diseases associated with hereditary metabolic disorders. This method includes analysis of peripheral blood for genetic diseases, as well as a qualitative and quantitative study of other body fluids.
- Cytogenetic. It serves to identify diseases that arise due to disorders in the organization of chromosomes of the cell.
- Molecular-cytogenetic. It is a more perfect method in comparison with the previous one and allows to diagnose even the slightest changes in the structure and arrangement of chromosomes.
- Syndromological . The symptomatology of genetic diseases often coincides with the signs of other, non-pathological diseases. The essence of this method of diagnosing is to distinguish from a whole series of symptoms specifically those that indicate a syndrome of hereditary disease. This is done with the help of special computer programs and careful examination by a geneticist.
- Molecular-genetic. The most modern and reliable method. Allows you to examine human DNA and RNA, detect even minor changes, including in the sequence of nucleotides. It is used to diagnose monogenic diseases and mutations.
- Ultrasonography:
- pelvic organs - to determine the reproductive system diseases in women, the causes of infertility;
- fetal development - for the diagnosis of congenital malformations and the presence of certain chromosomal diseases.
Treatment of genetic diseases
Treatment is carried out using three methods:
- Symptomatic. Does not eliminate the cause of the disease, but removes painful symptoms and prevents further progression of the disease.
- Aetiological. It directly affects the causes of the disease with the help of methods of gene correction.
- Pathogenetic. It is used to change the physiological and biochemical processes in the body.
Types of genetic diseases
Genetic hereditary diseases are divided into three groups:
- Chromosomal aberrations.
- Monogenic diseases.
- Polygenic diseases.
It should be noted that congenital diseases do not belong to hereditary diseases. they, most often, arise from mechanical damage to the fetus or infectious lesions.
List of genetic diseases
The most common hereditary diseases:
- hemophilia;
- color blindness;
- Down syndrome;
- cystic fibrosis;
- spina bifida;
- Canavan's disease;
- leucodystrophy Pelitseus-Merzbacher;
- neurofibromatosis;
- Angelmann's syndrome;
- Thea-Sachs disease;
- Charcot-Marie's disease;
- Joubert's syndrome;
- Prader-Willi syndrome;
- Turner syndrome;
- Klinefelter's syndrome;
- phenylketonuria.
The most rare genetic diseases:
- misconception of Capgrass;
- syndrome of a living corpse;
- lata;
- Klein-Levin syndrome;
- progeria;
- elephant disease;
- sharpened reflexion;
- micropsy;
- pica;
- Stendhal's syndrome;
- syndrome of an exploding head;
- Roben's syndrome.
Rare genetic skin diseases:
- porphyria;
- the Blashko line;
- blue skin syndrome;
- hypertrichosis;
- Günther's disease.