Falta syndrome is a rare disease of the central nervous system. It manifests itself with symptoms characteristic of dysfunction of the spinal cord and cerebellum. This disease is characterized by disturbances in speech and limb movements. The disease is also called “loser syndrome”, as it can lead to a nervous and mental breakdown, sometimes even causing impaired consciousness and a heart attack. When everything gets twisted.
Falta syndrome is a rare hereditary disease that affects approximately 42 people per ten million of the world's population. Scientists were able to identify only a few cases of the disease. The first case was described in 1859, and the last - 62 years later in Bulgaria. The doctor who discovered the syndrome himself died from this disease at the age of 117 years.
The disease is hereditarily transmitted through the male line and affects nerve cells. It begins to appear in young children, during adolescence. This is due to the fact that pathologies in the genes of the heirs can appear only after puberty. This is also stated in the etiology of the disease, since its manifestations are based on genetic disorders. Most often, patients inherit on the paternal side, less often on the maternal side, the “FGTEYY” gene, which encodes the enzyme Vyip-epidroxidase, which is several times more active than in healthy people. If this mutation is transmitted to both parents, then up to 98% of children will eventually become ill.
The patient begins to have serious problems when walking: he loses control over his movements. As a rule, there is poor balance due to damage to the cerebellar center located in the occipital lobe of the brain. As a result, the patient feels strange unsteadiness when walking, gait disturbance when turning, or postural sway. When the vertical position of the body or posture changes, attacks of “dramatic twitching” occur. Some patients feel nauseous and dizzy—the body seems to be out of alignment with the eye contact happening around them. But at the same time, there is a tendency to reduce dizziness with eyes closed. Approximately 60% of patients have a chronic unpleasant taste in the mouth. There is severe deterioration in coordination of movements and convulsive twitching of the muscles of the lower extremities. Due to motor activity, the calf muscles contract, which causes a weakening of gait even when walking calmly. Many patients gradually lose flexibility due to constant involuntary muscle contractions. Potassium deficiency provokes weight gain and difficulty in fine movements of the fingers and toes. Due to malnutrition of the brain, intelligence decreases, behavioral deviations appear, mood constantly deteriorates, memory deteriorates, and interest in learning disappears.
Falta syndrome: history of discovery and its significance for modern medicine
Falta syndrome belongs to the category of hereditary diseases - genetically determined metabolic and developmental disorders, accompanied by pathological symptoms that appear in childhood and adolescence. The pathology, at its core, is endocrine osteodystrophy, which does not depend on endocrine disorders and is characterized by the presence of disturbances in the formation of proteins, as well as disruption of the functioning of the skeletal system (skeletal deformation). This is a pathology of calcium metabolism in the bones, so the syndrome, according to experts, has actually acquired another name - calcium phosphate osteopathy.
The origin of the Falt surname is still unknown. The main character only knew the Austro-Hungarian doctor Sigmund Falk, who lived in the 20s of the twentieth century and practiced in Rome, Breslau, Vienna and other European cities. Most likely, the founder of the dynasty lived in Austria, but could not bear such a short surname as Sigmund Falk (or Sigi). This amazing name was formed by merging two of the most characteristic surnames in the list of members of the Austrian medical community - Falk-Otermann and Perce-Malesini.
This is a very ambiguous case where the surname came out due to an incorrect spelling of the surname, since the authors correctly spelled the surname "Falk". The table lists the name "Sigmund" as a masculine character and means "husband, spouse, provider", while "Peleg" means "servant" or "slave", plus "Herr" means "master". Someone probably mistook them for two different surnames when compiling the list of the medical society. However, it made for a stunning combination and contributed to the emergence of noble lineage.
There are several theories about how it got its name. One of them says that the Austro-Hungarian Empire, having defeated Turkey in the war of 1912-13, freed many slaves. It is possible that Zignundo's father was free, although he may even have come from a lower class. A more convincing theory is that Zygmunt's father was either Greek or Balkan, since he had a clearly non-German surname. But if it was of Greek or Bulgarian origin, then Sigmund's grandfather was probably a runaway slave taken by the Austrians after 1630. Another theory is that Zygmunde Falk's family may have contributed to the release of Zygmunt's father. Be that as it may, the family history and root is in the Ottoman capital called Istanbul. It is almost as if Zsigmond Falk is here to restore Anatolia and revive Greece, but he led a very different life, becoming a successful physician and writing an influential work on medicine. Unfortunately, he was a “secret Jew” and therefore never managed to become part of the large Austrian family.