Gargoylism

Gargoylism is a rare genetic disease that belongs to the group of lysosomal storage diseases. This is a hereditary disease that is passed from parents to children.

Gargoilism got its name due to the similarity in appearance of patients with gargoyles - decorations on the walls of medieval castles and cathedrals. This syndrome is characterized by a disturbance in the metabolism of mucopolysaccharides, which accumulate in various tissues and organs, including bone tissue, cartilage, skin, heart, liver and spleen.

With Gargoilism, there is a disruption in the functioning of lysosomes - cellular organelles that are responsible for the decomposition and processing of substances inside the cell. This leads to the accumulation of waste substances in the tissues of the body, which in turn causes various pathological changes.

Symptoms of Gargoilism can appear early in life, but most often become noticeable between the ages of 1 and 2 years. These may include:

1. Skeletal deformation, including curvature of the spine and chest, shortening of the limbs and deformation of the skull bones;
2. Impaired function of the heart, lungs and other organs;
3. Various visual and hearing impairments;
4. Mental retardation and mental health problems.

The diagnosis of Gargoilism is established on the basis of clinical manifestations of the disease, biochemical tests and genetic testing. Treatment for Gargoilism is aimed at improving the patient's quality of life and may include physical therapy, speech therapy, surgery, fluid therapy, and other symptomatic therapies.

Thus, Gargoilism is a rare and severe genetic disease that requires comprehensive medical intervention and long-term treatment. Although there is no complete cure for this disease, modern treatment and support methods can improve the quality of life of patients and increase their life expectancy.

Gargoilism, or Gunther's syndrome, also known as Hurler's syndrome, is a genetic disease of the human body that leads to external changes, including deformity of facial features. This disease is transmitted to children from parents who are carriers of its dominant gene. Genetic testing can be carried out by medical professionals and specialists during a direct examination of the patient.

Gargoilism is a serious disease that can have a huge impact on the quality of life of the sufferer. To maintain the balance of the expression of the syndrome, you need to adhere to a special diet and regimen, as well as