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Symptoms of disease - violation of genetic

Genetic disorders is any physical or mental pathology, which may inherited from the parents.

Disease, detectable at birth, are called congenital. Some genetic disorders are not manifested at birth, the disease develops as human growth, there are his signs and symptoms. Pathology can undetected until the age man sexual maturity, or even to the adult age.

For the understanding of genetic disorders need to know some of the main terms of the science of genetics and the principles of inheritance.

- Birth defects - a popular term for diseases and pathologies, connected with physical disabilities, the majority of which have a genetic nature. Nevertheless, the term «birth defect» sometimes refers to the pathology, which is not caused by genetic disorders, or its use is unreasonably confined only to the physical defects.

- The term «genetic» is linked with the gene is the basic unit of heredity. During the discussion of the inherent physical or mental disability the term «genetic» refers to the pathology that has arisen as a result of one or several violations of the structure of genes or chromosomes.

- The term «hereditary» refers to any characteristics of an individual, which may
be transferred to his or her descendants. Some genetic disorders, such as hemophilia (defect of blood clotting), are hereditary; others, such as Turner's syndrome (violation of sexual development in women), they are not. To say that this disease is genetic, does not necessarily mean that it is hereditary and will be presented in one or all of the descendants of the given pair. In addition, some hereditary changes, such as birthmarks, are considered to be inherited, though really it is not always so.

Genetic disorders is a universal problem. They are found among the representatives of all races, ages and both sexes. Some genetic disorders yet occur more frequently in certain ethnic groups. For example, sickle cell anemia (a rare defect in the red blood cells) is more common among black children (1 to 600 of the newborn). The disease Tay-Sachs (rare fatal degenerative disease of the nervous system, found almost exclusively among the Jews of Eastern Europe.

Each year in the United States, about 1 in 20 babies is detected one or other of the genetic defect. Many of them are minor, others are the main cause of many of the violations. For example, it is considered that the problems of 4 out of 5 of mentally retarded people in the U.S. are associated with different genetic defects. In addition, research suggests that in many diseases there is a genetic component: violation of the genetic material was found as the only or one of the reasons for the continuing growth of the number of illnesses in humans.

Every person is a carrier in the middle of one gene severe genetic diseases which may be transmitted to posterity. According to estimates of geneticists at each of the couples risk of giving birth to a child with a genetic pathologies or congenital defect, detectable immediately after birth, is 3%.

However, some defective genes determine only predisposition to the disease, which manifests itself in the presence of certain environmental factors. One such factor is diet. Children with phenylketonuria, for example, do not carry the normal amount of protein in their diet, as they organism lacks a certain enzyme necessary for full metabolism of one of the components of the protein. Under normal diet in these children have severe retardation in mental development. But if the use of their protein is strictly limited and make a change in their diet, these children develop normally.

Strictly speaking, the majority of genetic disorders and pathologies currently incurable, at least, this is true of their causes. However, medical science is now able to diagnose and successfully treat more and more genetic disorders. Over the past three decades in genetic research of the problems of human heredity made remarkable discoveries about the origin of human diseases. violation of genetic -
Genetic disorders is any physical or mental pathology, which may inherited from the parents.

Disease, detectable at birth, are called congenital. Some genetic disorders are not manifested at birth, the disease develops as human growth, there are his signs and symptoms. Pathology can undetected until the age man sexual maturity, or even to the adult age.

For the understanding of genetic disorders need to know some of the main terms of the science of genetics and the principles of inheritance.

- Birth defects - a popular term for diseases and pathologies, connected with physical disabilities, the majority of which have a genetic nature. Nevertheless, the term «birth defect» sometimes refers to the pathology, which is not caused by genetic disorders, or its use is unreasonably confined only to the physical defects.

- The term «genetic» is linked with the gene is the basic unit of heredity. During the discussion of the inherent physical or mental disability the term «genetic» refers to the pathology that has arisen as a result of one or several violations of the structure of genes or chromosomes.

- The term «hereditary» refers to any characteristics of an individual, which may
be transferred to his or her descendants. Some genetic disorders, such as hemophilia (defect of blood clotting), are hereditary; others, such as Turner's syndrome (violation of sexual development in women), they are not. To say that this disease is genetic, does not necessarily mean that it is hereditary and will be presented in one or all of the descendants of the given pair. In addition, some hereditary changes, such as birthmarks, are considered to be inherited, though really it is not always so.

Genetic disorders is a universal problem. They are found among the representatives of all races, ages and both sexes. Some genetic disorders yet occur more frequently in certain ethnic groups. For example, sickle cell anemia (a rare defect in the red blood cells) is more common among black children (1 to 600 of the newborn). The disease Tay-Sachs (rare fatal degenerative disease of the nervous system, found almost exclusively among the Jews of Eastern Europe.

Each year in the United States, about 1 in 20 babies is detected one or other of the genetic defect. Many of them are minor, others are the main cause of many of the violations. For example, it is considered that the problems of 4 out of 5 of mentally retarded people in the U.S. are associated with different genetic defects. In addition, research suggests that in many diseases there is a genetic component: violation of the genetic material was found as the only or one of the reasons for the continuing growth of the number of illnesses in humans.

Every person is a carrier in the middle of one gene severe genetic diseases which may be transmitted to posterity. According to estimates of geneticists at each of the couples risk of giving birth to a child with a genetic pathologies or congenital defect, detectable immediately after birth, is 3%.

However, some defective genes determine only predisposition to the disease, which manifests itself in the presence of certain environmental factors. One such factor is diet. Children with phenylketonuria, for example, do not carry the normal amount of protein in their diet, as they organism lacks a certain enzyme necessary for full metabolism of one of the components of the protein. Under normal diet in these children have severe retardation in mental development. But if the use of their protein is strictly limited and make a change in their diet, these children develop normally.

Strictly speaking, the majority of genetic disorders and pathologies currently incurable, at least, this is true of their causes. However, medical science is now able to diagnose and successfully treat more and more genetic disorders. Over the past three decades in genetic research of the problems of human heredity made remarkable discoveries about the origin of human diseases. More than 100 serious genetic defects can be detected even before the birth of the child with the help of various tests. In addition, in some cases, a possible definition of media violations, which may occur in children under certain circumstances.

A relatively new specialty in public health and clinical genetics - applies the principles of genetics for health care of children and adults. Doctors, trained at the same time medicine and genetics, make a diagnosis of many genetic diseases. One of the most useful and common activities clinical geneticists is a genetic consultation.

Which diseases there is violation of genetic

Cause genetic disorders

Almost every living cell in the human body contains complex information, regulating its activity and cell products in the course of life. This code is transmitted to all the descendants of the cells. The information is in the microscopic structures called chromosomes located in the nucleus of each cell, In normal conditions, each cell contains 22 pairs of chromosomes, called autosomal, and the 23-th pair of sex chromosomes, which determines the sex of man.

Each chromosome contains a long chain, consisting of many hundreds and thousands of genes; each microscopic gene is located exactly in a certain order on a chromosome. Genes are the basic unit of heredity - consist of different nucleic acids, called DNA. Each gene is responsible for a specific characteristic of the organism. In humans, for example, there is a particular gene or combination of genes for hair color, eye color, shape ears and hundreds of other physical characteristics. the 23rd pair of chromosomes is identical to practically in all cells of the organism.

Theoretically, the first cell, which gives the start of the human body, receives half of each of the standard of chromosomes from each parent: 23 chromosomes, one from each pair of the mother's egg and 23 chromosomes from the father's sperm. The first cell contains a unique combination of the 23 pairs of chromosomes, which is then divided millions of times; each new cell is identical to the previous by the number and set of chromosomes. With the growth of the organism cells differentiate to perform specific functions. Normal human body contains hundreds of different types of cells, and they all contain the same set of chromosomes. Sometimes there is a violation of: chromosome or gene becomes faulty, as the defect was inherited from the parents or a spontaneous change in chromosome or gene during the formation of the sperm and the egg.

Genetic disorders can be divided into three basic types: single gene defect, chromosomal defects and complex, or multifactorial, the violation.

1. Defective gene occurs in 1% of live births. This condition can be divided into three main categories: autosomal dominant, autosomal recessive, X-engage (sometimes called engage with the floor).

1A. Autosomal dominant genetic defect is transmitted from one affected parent. It is revealed about 1 000 diseases that are transmitted in this way. If one of the parents carries the defective gene, there is a 50% risk of its transfer to the offspring. Under adverse circumstances, when both parents carry the defective gene, the risk of transmission is 75%.

Parents should remember that the risk of a specific gene defect remains the same for each child of the parents. For example, parents who have a child with a genetic defect, inherited predominantly, could be a mistake to believe that the 50-interest rate risk (one of two) means that their next child will not be subjected to threats of this genetic disease. In fact, the risk remains the same for all of their children.

Examples of autosomal dominant genetic disorders can be some form of polydactyly (extra fingers and toes), neurofibromatosis (integrated defect nerves, skin and muscle tissue), achondroplasia and some other forms of dwarfism, accompanied by other physical defects, and some of the diseases that begin in adulthood, such as Huntington's disease is irreversible degeneration of the brain.

1B. Autosomal-recessive gene defect can be passed from a parent suffering from a disease or is a carrier. Nevertheless, the disease is manifested by the child, but if he inherited this autosomal-recessive genetic pathology from both parents. Person is a carrier, if he or she is the only recessive gene for the disease, but he has no symptoms. If both parents are carriers, each of them children there is a 25 percent chance of falling ill and the probability of 50% of being a carrier of the disease (as well as each of the parents). Found approximately 1 000 recessive gene disorders.

Among the most famous of recessive gene defects are the following disorders: sickle cell anemia, Tay-Sachs disease, phenylketonuria, some forms of albinism, cystic fibrosis. The rare recessive gene violations are complete violation of the cavity of the nervous system, Wilson disease, a disease characterized by abnormal deposits of microscopic copper in the liver, brain, kidneys and eyes.

1B. X-linked genetic defect is so named because pathology is passed to the X chromosome, one of the sex chromosomes. Most of the X-linked gene defects is recessive. The majority of hereditary diseases depends on a single gene or combination of genes, mysterious exception is the floor: the floor of a person is determined by genes located on the special sex chromosomes. Each woman has two X chromosomes, each man - one X chromosome and one Y-chromosome. The division of the chromosomes of each of the father's sperm gets the X or The y-chromosome, each of parent eggs gets the X-chromosome. Descendants, received The y-chromosome from the father become men (HU), having received of the father's X chromosome become women (XX).

If a man has a defective gene on the X chromosome, he has a genetic basis for the development of the disease, as he had no second X chromosome to counter the pathologic gene. This defective gene is formed spontaneously or is inherited from the mother. Each born of a woman is a carrier of a boy there is a 50 percent risk of a recessive associated with the floor of the genetic defect. It is known more than 150 gender-related gene defects. For example, color blindness, hemophilia, Duchenne muscular dystrophy is a progressive disease of the muscles.

2. The second, more extensive category of genetic defects, called complex, or multifactorial, are violations arising from the interaction of the gene (or genes) and factors of the external environment. The number of multifactorial diseases not precisely defined, but exceeds 2000 and they are found in 3% of children.

Up to the present time there is no exact test to determine or predict the risk of multifactorial disease. It is believed that if a family has one child with a multifactorial disease, the risk of this disease in the family again is 5%. Nevertheless, the birth of the second child with this disease increases the risk of birth of the third of a sick child.

The mechanism of transfer of multifactorial disease remains a subject of high science, only partially studied by geneticists. Examples of multifactorial diseases are clubfoot, cleft palate, cleft lip, diabetes, congenital dislocation of a hip and spina bifida.

Researchers continue to study the mechanism of transfer of multifactorial diseases. It is expected that some of the children inherit the increasing sensitivity to existing factors of external environment. The influence of these factors (or agents) high sensitivity in the future may lead to the development of the disease or pathology. It is considered that this mechanism operates, for example, in some forms of congenital heart defects (see congenital heart disease), cancer, some psychiatric disorders (e.g. schizophrenia), allergies, and it is possible that certain types of hypertension.

3. Chromosomal abnormalities arise from the change in the number or structure of chromosomes. Most of chromosomal defects arises spontaneously, as a genetic «catastrophe», due to that there is a chromosome set, not like the parent. Some of them may be transferred to the offspring. Chromosomal defects, as a rule, are formed during the formation of reproductive cells (eggs and sperm). If there is a melding of these cells and the implantation of the embryo, the emerging fruit violate the number or structure of chromosomes.

Chromosomal pathology is usually connected with large and small physical defects and mental retardation one degree or another, or with the violation of puberty. The most famous chromosome violation is down syndrome, caused by an abnormality of chromosomes, he is one fifth of the cases, chromosomal abnormalities. If in a family there is a child with a chromosomal pathology, the risk of re-birth of a sick child increases. The risk depends on the type of chromosomal defect. Serious chromosomal abnormalities occur in 1 in 150 births. Most of them significantly violate the development and normal functioning of the patient.

Signs and symptoms of a genetic disorder

Signs and symptoms of a genetic disorder vary depending on the disease.

Which doctor should I contact if there is a violation of genetic

• Geneticist

Are you experiencing violation of genetic? You want to know more detailed information, or you need an inspection? Please sign up on reception to the doctor! Doctors will examine you, examine the external signs and help to determine the disease the symptoms, they will consult you and provide the necessary assistance. You can also call the doctor on the house.

Do you feel disrupted genetic? You should be very careful approach to your health in general. People pay not enough attention to the symptoms of the disease and don't realize that these diseases can be critically dangerous. There are many diseases that in the beginning didn't manifest in our body, but in the end it turns out, unfortunately, it have already been treated too late. Every disease has its own specific features typical symptoms - called symptoms of the disease. Definition of symptoms is the first step in the diagnosis of diseases in general. You just need a few times a year to be screened by a doctor, not only to prevent a terrible disease, but also to maintain a healthy spirit in a body and the organism in general.

Disorders by category

Disorders by alphabet

Map of the symptoms and the types of disorders is intended solely for educational purposes. We strongly recommend do NOT self-medicate; on all matters relating to the definition of the disease and ways of its treatment, contact your doctor. Md-tips is not responsible for the consequences of use information posted on the site.