Presentation on theme: "Tay-Sachs Disease Salman Hossain Kevin Kong. History of tay-Sachs Disease The disease Tay-Sachs is named after ophthalmologist, someone who studies the."— Presentation transcript:
History of tay-Sachs Disease The disease Tay-Sachs is named after ophthalmologist, someone who studies the anatomy physiology and diseases of the eye, and Neurologist Bernard Sachs. They both identified it but in later studies, Tay-Sachs, was classified as a genetic mutation on the HEXA gene on chromosome 15. There are different forms of Tay-Sachs disease like infantile Tay-Sachs disease, Juvenile Tay-Sachs Disease and Adult/Late Onset Tay-Sachs Disease.
Infantile Tay-Sachs Disease Infants with Tay-Sachs disease appear to develop normally for the first six months after birth. Then nerve cells become distended with Gangliosides, a relentless deterioation of mental and physical abilities. Muscles start to waste away and paralysis sets in and death usually occurs before the age of four.
Juvenile Tay-Sachs Disease Exteremely rare, juvenile Tay-Sachs disease presents itself in children between two and ten years of age. They develop cognitive, motor and speech difficulties, swallowing difficulties, unsteadiness of gait, and spasticity. They usually due around five to fifteen years.
Adult/Late Onset Tay-Sachs Disease A rare form of the disorder and occurs when the patients are in their late 20’s and 30’s. Late Onset Tay-Sachs disease or LOTS is frequently misdiagnosed and is usually non-fatal. Characterized by unsteadiness of gait and progressive neurological deterioation. They develop cognitive, motor and speech difficulties, swallowing difficulties, unsteadiness of gait, and spasticity early in their teens.
Symptoms Symptoms : deafness, decreased eye contact, blindness, decreased muscle tone (loss of muscle strength), delayed mental and social skills, dementia, increased startle reaction, irritability, listlessness, loss of motor skills, paralysis or loss of muscle function, seizures, slow growth
Genetics Tay-Sachs is an inherited disease that only occurs when both parents carry a Tay-Sachs gene and each parent transmits the defective gene to their child and that child who inherits two Tay-Sachs genes produces non functional Hex-A enzyme and is certain to develop Tay-Sachs disease. Tay-Sachs disease is caused by a defective gene on chromosome 15. When both parents carry the defective Tay-Sachs gene, a child has a 25% chance of developing the disease. The child must receive two copies of the defective gene -- one from each parent -- in order to become sick. If only one parent passes the defective gene to the child, the child is called a carrier. He or she won't be sick, but will have the potential to pass the disease to his or her own children.
What life is like for people and their families… Usually, there are not any infantile or juvenile Tay-Sachs disease survivors but Late Onset Tay- Sachs patients describe their childhood as harsh and very difficult from everyone else. They had a difficult time communicating because their speech would be slurred and would have hard time doing normal tasks like opening jars or playing any form of sport. Although challenged by LOTS, patients are receiving the support they need and they receive help for most of the activities.