Tay-Sachs

By Jeremiah & Jeremiah 2

A Deadly Disorder/Autosomal Recessive

Tay-Sachs disease is a progressive neurological genetic disorder that appears in three forms: Classic Infantile, Juvenile and Late onset Chronic Tay-Sachs. Hereditary disorder resulting from a deficiency of the enzyme hexosaminidase. Tay-Sachs disease often results in an early death.This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

The Average age of onset

Usually die by age 4 or 5.Die early age.

Common for Children

In the most common form of the condition, symptoms usually begin at around six months of age, when a previously normal child's development begins to slow and they gradually lose their ability to move. The most noticeable early symptoms include a child being excessively startled by sudden noises and red dots appearing near the middle of the eyes.

The child will then develop problems such as muscle weakness, increasing loss of vision, loss of hearing and seizures.Most children with the condition die by the age of three to five years.Less common forms of Tay-Sachs disease can begin later in childhood or even early adulthood. These usually progress less rapidly than the disease seen in very young children. However, only in rare cases is life expectancy not affected.

Affect On A Person's Life

A person body produces enough of the enzyme of prevent build up of the GM2 ganglioside lipids. People who carry Tay-Sachs diseases have one copy of the inactive gene, as well as one copy of the inactive gene: they remain healthy. Carries do not have the disease although they have ability to pass the active gene to children.
Tay Sachs - A Deadly Disorder