Tay-Sachs disease is an inherited recessive gene disorder that progressively destroys nerve cells within the brain and spinal cord. The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear to be developing normally until the age of three to six months. Typically after this point is when their development slows and muscles begin to weaken. These infants lose motor skills and identifiable milestones such as turning over, sitting, and crawling. Another sign of this disease is the sudden startle reaction to loud noises.
As the disease progresses, children often begin to acquire seizures, vision and hearing loss, and paralysis. A common characteristic of this disease is an eye abnormality called a cherry-red spot, which can be identified with an eye examination. Often times this is how the disease is found when at a doctor’s visit. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood, usually somewhere between the ages of three to five. …show more content…
Signs and symptoms can appear in late childhood, adolescence, or adulthood. Luckily in these stages, symptoms are usually milder than those seen with the infantile form. Characteristic features include muscle weakness, loss of muscle coordination, problems with movement, speech problems, and mental degradation. These signs and symptoms can vary widely among people with later-onset forms of Tay-Sachs disease.
Tay-Sachs disease is found to be rare in the general population. The genetic mutations that cause this disease are most common within the people of Ashkenazi Jewish heritage than in those with any other backgrounds. The same mutations can also appear more commonly within certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of