Genetic diseases you probably haven’t heard of yet

Apr 12, 2018 Health

Genetic diseases you probably haven’t heard of yet

There are countless diseases in the world. Often we are not aware of their existence at all. Most of them are genetic.
These diseases are sometimes called orphanages. Few specialists want to take care of them. No extensive research is being carried out into their diagnosis and treatment. Symptoms are specific and rare. What is worse, such a disease affects several people around the world. They often have genetic background, and in order to be able to recognize them correctly, the causes should be sought in DNA analysis. Treatment is problematic because of the small number of patients. Pharmaceutical companies either do not undertake the production of a drug or significantly increase the price. In the USA, there are still diseases before which doctors spread their hands.
Factory disease
As a result of this disease, harmful metabolic products accumulate in blood vessels, organs or other tissues, which results in their malfunctioning. The cause of the disease is gene mutation. The Factory is associated with strong, paroxysmal limb pains, disorders of thermoregulation, the appearance of rash, horns. As a result, the patient may struggle with corneal degeneration, heart and circulatory system diseases, or intestinal and stomach disorders. Fabry’s syndrome is a genetic disease, so you can only try to remove deposits and eliminate the risk of the formation of new ones.
Ehlers-Danlos Syndrome (EDS)
This disease occurs on a scale of 1:5000 births. The disease mainly affects the skin, which is soft and in some cases very stretchable and extremely susceptible to bruising. In addition, it affects joints – it causes their excessive mobility, and sometimes free movement associated with severe pain. The cause of all these changes is the disturbance of collagen structure in the connective tissue. Due to the genetic background, also in this case it is only possible to alleviate the symptoms by administering preparations delaying the progress of changes in joints.
Leigh syndrome
It is a mitochondrial disease – it causes disturbances in the energy supply of cells, which results in damage – primarily to the brain and muscles. It is caused by disorders or mutations in DNA. Symptoms include: epilepsy, psychomotor slowdown, touch disorders, frequent infections, adrenal and thyroid hypothyroidism, deficiency of growth and weight. The disease is difficult to diagnose due to the variety of symptoms. So far, it has not been possible to create a drug that would slow down the progression of the disease. The affected disease is administered only vitamin B1 and thiamine.
von Hippel-Lindau syndrome
It is unusual in a special way, because the disease in each person may have a different, individual course. It is a syndrome of increased predisposition to cancer, most often in the form of tumors and cysts. Depending on the changes in DNA, one or more organs may be attacked. The most frequent changes occur in the central nervous system, kidneys, adrenals, pancreas, epididymis and sight organ.
An additional difficulty is the fact that in most cases you can only weaken the symptoms of this disease and try to inhibit their progress. Unfortunately, there are more and more diseases caused by DNA mutations. Therefore, it is worth to take care from an early age to conduct research in the direction of discovering possible changes in the DNA code. Deciding on such a test, e.g. with the Code of Me, we receive a comprehensive report on the condition of our body. Let the opinions of people who, thanks to genetic tests, protected themselves from the development of life-threatening diseases, will be the best proof of how important it is to perform tests.