Werner syndrome: description and symptoms
Currently, an increasing number of people suffer from various diseases. Not in the last place are genetic pathologies.
Werner-Morrison syndrome is a hereditary autosomal recessive disease of the connective tissue. This disease is characterized by premature aging of the skin, bone tissue, endocrine and nervous systems of the body.
In a person suffering from the syndrome, the probability of the appearance of malignant tumors, which can lead to irreversible consequences, increases many times. Such neoplasms include: melanomas, sarcomas, lymphomas, etc.
Mostly Werner syndrome affects men between the ages of twenty and thirty years. An interesting fact is that scientists have not yet proved whether there is a relationship between this disease and other symptoms of premature skin aging.
To date, experts in this field have not yet been able to identify the causes of the development of this life-threatening disease.
The body of the child is not affected by the malignant genes present in the parents' DNA. However, if there is a synthesis of defective genes of both parents, then in the future the child is at high risk of developing this disease. In addition, there is a high probability of early mortality in children with such a genotype, due to the fact that it is unlikely that patients with Werner's syndrome can live to be sixty years old.
Symptoms of the disease
The initial symptoms of the disease begin at a young age of thirteen to eighteen years old, though it happens when the syndrome begins to manifest itself and quite late, after the patient has had full puberty.
Until this time, the patient develops in the same way as his peers, without any external physical defects, however, as the disease begins to progress, aging processes gradually start to occur in his body, affecting almost all vital systems.
One of the first symptoms of Werner syndrome (the photo is presented below) that the patients notice is that gray hair appears on the hair, it fades, becomes more brittle and falls out.Further visible changes occur in the structure of the skin: wrinkles begin to appear on it, the skin cracks, it becomes dry and thin, peels, and pigmentation is formed.
There are other processes that also indicate aging of the body. A person may develop a cataract, malfunctions in the cardiovascular, central nervous and endocrine systems, the functions of the digestive and excretory systems suffer, such “senile” diseases as atherosclerosis, osteoporosis, skeletal muscles atrophy appear, various kinds of neoplasms may develop . Often called Werner's syndrome progeria adults.
On the part of the endocrine system, disorders of the thyroid gland can be observed. A patient with the syndrome may have no secondary sexual characteristics, girls may have amenorrhea, men are more likely to be sterile, and the patient can be diagnosed with diabetes.
There is a gradual atrophy of muscle and adipose tissue, the legs and arms gradually weaken and lose their tone, while becoming inactive.
Changes in appearance
There are also changes in appearance: facial features are made sharper and rougher, the nose is enlarged and sharpened, the lips become thinner, the corners of the lips descend. By the age of thirty or forty, a patient with this pathology is like an eighty-year-old man. As already mentioned, very rarely a person suffering from the syndrome can live up to the age of sixty, and besides, deaths due to cancer, stroke or heart attack are the most frequent.
Toward thirty years, the patient may appear bilateral cataract, change the voice, but the skin is most affected.
In connection with the pathologies of fat and sweat glands, sweating stops abruptly. There is not only a weakening of the arms and legs, but a decrease in the mobility of the extremities, painful syndromes in the bones, the development of such pathology as flatfoot. Werner syndrome (premature aging syndrome) is a very serious disease.
With reaching the age of 40, cancer of internal organs is diagnosed in 10% of patients.
Regardless of the stage of development of the pathology, the cure of the syndrome is not yet possible, but it is possible to reduce pain and relieve some of the symptoms with supportive therapy.
Only a highly qualified and competent specialist can accurately diagnose this disease after a full examination of the patient. Werner syndrome can be determined by the presence of external symptoms, and the patient must also be tested for the above diseases for an accurate diagnosis.
It is possible to diagnose an ailment both by the presence of a cataract in a patient, or by skin lesions, as well as in the event that there are at least four of the listed symptoms.
To fully exclude the diagnosis is possible only when prior to the beginning of adolescence any of these signs will be absent. However, there is an exception when there is a slowdown in growth, due to the fact that specialists in this area still can’t accurately establish the reasons for its stoppage in childhood.
To diagnose the syndrome, it is necessary to take X-rays to study the process of secretion of hormones. In addition, a biopsy of the skin can be prescribed, as well as blood donation to determine blood sugar levels. You can also test for the presence of a WRN gene to detect a disease. How to prevent Werner syndrome? About it further.
Such a dangerous disease is hereditary, therefore measures to prevent this pathology are absent.
To date, have not yet figured out how to cure from the disease. The main action among specialists is so far aimed only at the possibility of relieving adverse symptoms, as well as carrying out treatment and prophylactic measures for associated diseases.
The rapid development of plastic surgery today can significantly change the manifestation of the disease in relation to external signs, namely, premature aging of the skin of the face, hands, neck, etc.
In our time, modern medicine is not standing still, and experts in this field have begun to test stem cells as one of the ways to combat this ailment. Perhaps in the near future, scientists will be able to receive the long-awaited results of their research and apply them in progeria (Werner syndrome).