Hereditary diseases are syndromes or diseases that arise due to defects in the genetic material or that are newly formed by mutations (spontaneous mutation due to environmental influences, infections during pregnancy, etc.).
The cause of hereditary diseases is always a change in individual chromosomes or chromosome segments (genes). Chromosomes are found in the cell nuclei of all multicellular organisms and contain the genetic information in the form of DNA strands on which the individual genes are located.
Humans have a total of 46 chromosomes in each cell nucleus, of which two chromosomes are sex-determining (XX, XY). The remaining 44 chromosomes are crucial for the development and function of individual organs, whereby the individual genes have a specifying effect.
Each chromosome and gene can be damaged and cause serious hereditary diseases. In chromosomal hereditary diseases there is an anomaly of chromosome number or structure. Known hereditary diseases of this category are trisomy 21 (Down syndrome), Klinefelter syndrome (XXY) and Turner syndrome (only one X chromosome). These hereditary diseases often express themselves with reduced intelligence, altered physiognomy and physical impairments at different degrees of severity.
In a monogenic disorder, only one gene is defective. These hereditary diseases are common, complicate and hinder eg the formation of enzymes and proteins and are responsible for most metabolic diseases. Hemophilia, sickle cell anemia and albinism are also inherited diseases.
Monogenic defects can be inherited, but also arise spontaneously. In polygenic or multifactorial hereditary diseases several genes are affected, which act together in a faulty way. Often, environmental influences are also crucial. This concerns, for example, the cleft palate, inheritable forms of schizophrenia and some allergies.
Due to the large number of hereditary diseases, it is impossible to describe symptoms and symptoms in a standardized way. Most hereditary diseases, however, are characterized by the fact that the symptoms associated with them occur at some point in life and eventually worsen. In many cases, they signify a lifelong restriction on the person concerned and can sometimes shorten their life considerably.
The symptoms include metabolic disorders, nerve degeneration and genetic blindness. The fact that a genetic predisposition to certain conditions in the broadest sense can be defined as hereditary disease, in some cases also suffering such as heart attacks, increased susceptibility to tumor formation and osteoporosis in the circle of symptoms.
Signs of hereditary disease often include offspring showing symptoms already known to parents or grandparents. The suspicion of the presence of a hereditary disease is then close. However, this is easy to assume only in autosomal dominant inheritance, as autosomal recessive inheritance can be inherited one or more generations without manifesting a disease.
In order to get an overview of the symptoms and possible signs of hereditary disease, it is useful for offspring of susceptible carriers of such genes, as well as the susceptible carriers themselves, to become familiar with the corresponding inheritance and occurrence probabilities.
An accumulation of certain diseases in the family may indicate hereditary diseases. Monogenic defects are difficult to diagnose and are often referred to as "predisposition, " not hereditary disease. Whether and how severe the individual clinical pictures in the more relevant chromosomal hereditary diseases, depends on whether only parts of a chromosome are damaged, a chromosome completely absent or even double occurs.
Gender-specific hereditary diseases (X, XXY) are often associated with poor intelligence and / or infertility. Most damage to the chromosomal genome does not produce a viable organism. Nature helps itself with these acute hereditary diseases and the embryo is rejected.
Many hereditary diseases thus remain unrecognized. Caregivers of a genetic defect do not have to have the corresponding clinical picture themselves, but they can inherit the defect recessive or dominant. Incestuous compounds often cause offspring with hereditary diseases.
The complications are very much dependent on hereditary disease itself and its treatment. In many cases it is possible to limit and combat the symptoms and complications with the help of early treatment. However, in severe cases, treatment is not directly possible, so only the symptoms can be treated to make life easier for the patient.
In most cases hereditary diseases are associated with problems with intelligence and motor skills. Thus, there is a mental and physical retardation. This leads to strong social problems, bullying and teasing, especially in children. In some hereditary diseases, there is a strong reduction in life expectancy by the expression of different diseases.
This is especially the case when the immune system is significantly weakened and can not provide lasting defense. A hereditary disease can not be treated initially, so the treatment is only designed to reduce the symptoms. In many cases, therapies are possible that limit the symptoms and allow the patient to live a healthy life.
Inherited diseases should definitely not be taken lightly, so in any case an examination by a specialist should take place. Some hereditary diseases can even be detected immediately after birth, so that a subsequent care by a doctor must be mandatory. Of course, it is always important what kind of hereditary disease is present. Some hereditary diseases require regular treatment as well as medical interventions to prevent serious consequential harm.
The intensity of a subsequent treatment is of course always dependent on the respective hereditary disease. In some cases, only a check-up is necessary, so there is no need for long-term treatment by a doctor. In other cases, certain hereditary diseases require regular examination or treatment, otherwise permanent or even fatal consequential damage may result. For this reason, a study on hereditary diseases should definitely take place with every person. Such an early check-up can detect any hereditary disease, so that any complications can be avoided.
By amniotic fluid examinations, most chromosomal hereditary diseases can already be detected at the embryonic stage. The affected parents must finally decide for themselves whether they want to give life to a disabled child.
However, the origins of hereditary diseases are currently untreatable. Only the symptoms can be alleviated by medication. For example, mentally handicapped children with trisomy 21 are now allowed to lead a largely independent life in adulthood, which is achieved through targeted support, among other things. Also, the life expectancy of people with a hereditary disease (eg cystic fibrosis) has increased significantly through the progress of medical science.
Children with congenital hereditary hyperthyroidism (hypothyroidism) were formerly classified as "feeble-minded" and suffered from short stature. The clinical picture of this hereditary disease was called cretinism. Today, the disease is suppressed by the administration of artificial thyroxine (thyroid hormone) and iodine and the children can develop normally. Many hereditary diseases have lost their stain and are successfully treatable, although not (yet) curable.
The prognosis of hereditary diseases has to be determined on the basis of an individual disease. Since human genetics must not be interfered with, fundamental changes in the DNA are not possible. Hereditary diseases can therefore only be treated symptomatically. There are diseases in which good results can be achieved by the treatment of the resulting complaints and a stable quality of life is achieved.
Due to surgical interventions innumerable correction possibilities are given, which contribute to an improvement of the situation. Often, however, multiple surgeries must be performed throughout life to ensure patient survival. Thanks to medical progress, the scientists are continually succeeding in finding and successfully implementing new methods or options for treatment. Nevertheless, there are hereditary diseases in which medicine can use no or only a few therapeutic procedures.
Often, the lifetime of the patient with genetic defects is significantly reduced. In addition, a reduced development, visual abnormalities or mental and motor impairments can be expected. In addition to the physical characteristics of a hereditary disease often occur mental illnesses that can further deteriorate a prognosis. In some cases, a fetus or a newborn child is not viable. It dies already in the womb or in spite of all efforts shortly after birth.
It is important to recognize hereditary diseases at an early stage in order to reduce the effects on the body and mind as well as impairments to the quality of life. Gene defects that affect the metabolism can now be treated well. Early treatment reduces the severity of the condition caused by such hereditary diseases, and allows those affected to live a largely normal life.
For many hereditary diseases, the aftercare is very difficult. Genetic defects or mutations can have such serious consequences that physicians can only mitigate, correct or treat a few of them. In many cases hereditary diseases trigger severe disabilities. With these people have to fight for life.
What can be done in the aftercare is often enough only in physiotherapeutic or psychotherapeutic measures. However, treatment successes can be achieved in a range of slowly progressive hereditary diseases. How these look depends on the disease itself.
In hereditary diseases such as hemophilia, cystic fibrosis or Down's syndrome, very different clinical pictures can be found. The same applies to the palate-jaw column, the neurofibromatosis or cystic kidney. The follow-up measures must be based on these clinical pictures.
Generalizing statements about the type of follow-up are only allowed insofar as it makes life easier for the affected patients if possible. Hereditary diseases can cause life-long increasing or consistently severe complaints. They can severely limit the quality of life and lifespan. In many hereditary diseases operations relieve little. If necessary, postoperative care will be necessary.
Some of the symptoms or disorders of hereditary diseases can be treated successfully today. Psychotherapeutic care is useful in case of hereditary diseases where depression, inferiority or other mental disorders occur as a result of the characteristics of the disease.
Hereditary diseases are genetic and are passed on from generation to generation. The person affected can usually not take any measures against the causes of a hereditary disease. The conventional medicine is currently not able to treat a genetically caused disease causally.
However, those affected can in many cases help manage the risks or mitigate the severity of the disease. What a person affected can do in concrete terms, however, depends on which hereditary disease he suffers or which hereditary diseases have already occurred in the family.
In many hereditary diseases, a serious disorder can already be detected in the context of prenatal diagnosis. Expectant parents, in whose families one or more hereditary diseases are common, should therefore make use of the offered preventive check-ups. They can then decide in case of severe disability if they want to interrupt the pregnancy prematurely.
Some hereditary diseases, however, show up only in adulthood. In this case, the course of the disease and the prognosis for the person concerned often depend on the disorder being recognized early on and adequately treated. Individuals whose families have hereditary diseases should familiarize themselves with the course and the concomitant symptoms of the disease, so that they can interpret the first symptoms correctly and receive timely medical help.