Progeria (Greek, premature old age) is a rare disease involving the extremely rapid aging of the body. This is also the translation of its Greek name: premature old age. Progeria is a genetic disease and its causes have not yet been elucidated. It is only known that progeria arises as a result of mutations of laminae - proteins contained in cell nuclei.

Progeria- although the mechanism of the disease development is similar - it has two main varieties:progeria in childrenoccurs in the form of the Hutchinson-Gilford syndrome, aprogeria in adultstakes the form of Werner's syndrome. The difference between them is the moment in which they reveal themselves in a person's life.

Progeria in children is the Hutchinson-Gilford syndrome

SyndromeprogeriiHutchinson-Gilford , so called after the names of the doctors who conducted research on this strange condition, manifests itself in young children , most often when they are one year old. Children burdened with progeria at birth usually have a normal body weight and in the first twelve months of life - apart from possible persistent changes (eczema and redness) on the skin, the disease is asymptomatic. Parents begin to suspect its existence when the child's skin sags, the first wrinkles are formed on it, hair falls out, the child is teething late, does not grow and does not gain weight properly. This usually happens in the second year of life. More extensive changes take place in the following years: the child is short and slender, but has a disproportionately large head with a receding, underdeveloped mandible, which often does not contain teeth, clear veins on the scalp, bulging eyes. The chest is irregularly shaped, the collarbones are short, the hips are valgus. The joints are clearly protruding on the skinny limbs. The skin is thin and dry, and the wrinkles and spots characteristic of old age multiply on it. It happens that young people suffer from osteoporosis located in unusual places - most often in the long bones of the legs. Calcium deposits are also found in soft tissues, and dry skin promotes the formation of ulcers around the elbows, ankles and feet. The child is not sexually mature, has a high, squeaky voice.However, his mental development runs smoothly, and sometimes even above-average talents are observed.

Important

Over the course of life, a young person affected by progeria reveals diseases typical of older people: arthritis and arteriosclerosis cause joint stiffening, rheumatic problems appear, and cancer develops. Changes in the bloodstream throughout the body cause circulation problems and hardening of the veins. Progressive atherosclerosis of the coronary arteries and cerebral vessels usually results in a heart attack or stroke and, as a result, death. Young people affected by progeria live on average around 12-13 years.

Progeria in adults is Werner's syndrome

Progeria manifested in adults is calledWerner's syndrome . Its first symptoms are noticeable in adolescence, and all of them appear in twenties-year-olds. And although scientists have not yet determined whether the condition really accelerates the normal aging process or just resembles it, the effect is that a person with this Werner syndrome ages 7-8 years within one year. So he dies quickly.

Important

Progeria is a rare and still poorly recognized disease, although scientists are particularly interested in it as they believe that research may reveal the mechanisms of the natural aging process. Unfortunately, so far no cure for it has been invented and no unambiguous principles of therapy have been formulated. Only physiotherapeutic treatment is used to improve the rapidly aging organism.

Category:

Genetic diseases