Amaurotic Familial Idiocy

Amaurotic Familial Idiocy is a rare hereditary disease of the nervous system that leads to progressive degeneration of the brain. This disease is a form of Tay-Sachs disease, which is also known as hereditary spheroidal lipofuscinosis.

Tay-Sachs disease is a group of genetic diseases that lead to the accumulation of lipofuscin in cells of the nervous system. Lipofuscin is a pigment that is formed as a result of the oxidation of lipids and proteins and accumulates in cells with age. In patients with Tay-Sachs disease, lipofuscin accumulates in excess amounts, leading to progressive degeneration of nerve cells.

Symptoms of Amaurotic Familial Idiocy include delayed psychomotor development, muscle weakness, seizures, loss of vision, stunted brain growth, and enlarged liver and spleen. These symptoms usually begin in early childhood and progress over time, leading to permanent disability and death within a few years.

Idiocy Amaurotic Familial is inherited in an autosomal recessive manner, which means that the disease can only occur if both parents carry the defective gene. If both parents are carriers of the gene, then each of their offspring has a 25% chance of inheriting the disease.

There is currently no treatment for Amaurotic Familial Idiocy, and patients usually require ongoing care and support. However, research into gene therapy and cell transplantation may offer hope for future treatments for this rare and devastating disease.

In conclusion, we can say that Amaurotic Familial idiocy is a serious hereditary disease that leads to progressive brain degeneration and complete disability. Although there is no cure, research into gene therapy and cell transplantation may offer hope for future treatments for this disease.

Currently, there is an increase in the number of patients with a specific hereditary recessive congenital disease associated with progressive deficiency and accumulation of fructose-1-phosphate aldolase (aldolase B).

An important genetic subtype of this disease is familial idiocy amaurosis (idiotic amaurophy), which we often call Seika-Sake disease (Tay-Sake disease). However, the American Association against Childhood Blindness has recently begun to consider this term incorrect, and to use a more general definition to refer to this condition - idiocy amaurosia. Also, the term idiopathy began to be used as a synonym or variant of familial amaurosis.