PRESENTATION OUTLINE
WHAT IS IT?
~Progressive, life threatening disease of the nervous system passed down through families.
HISTORY
~named after Warren Tay & Bernard Sachs who discovered the symptoms.
~In may 1971, the first Tay-sachs screening took place
~the gene that causes this disease was discovered in the late 1980s
~75 different mutations had been identified: currently there have been 100 mutations reported from different ethnic groups
SIGNS & SYMPTOMS
~Muscle weakness
~8-10months- the baby will become less responsive
~1 year-vision will be lost & seizures begin
~2 years- trouble swallowing
~A cherry red spot will appear in the retina of the child's eye
CAUSES
~All people have two copies of the Tay-Sachs gene [HEXA]
~It occurs when neither of a person’s HEXA genes are working properly because of a mutation
~If a person has one working copy of the HEXA gene and the other copy has a mutation in it, he/she is called a "carrier." ~Carriers don’t show symptoms but when two carriers have children together each child will have a 25% chance of developing
DIAGNOSIS
~A blood test can be taken
~A doctor will do an eye examination to see if the patient has a cherry-red spot in the center of the eye’s macula.
MANAGEMENT
~Life expectancy: 2-4 years of age.
~Treatment: seizure medication, respiratory care, chest physiotherapy, feeding tubes, and physical therapy, & the goal for treatment is support and comfort.
TYPES of Tay-Sachs
~There are 3 types: clasic (infantile), Juvenile onset, and late onset
~Juvenile: 2-10 years of age
~Late onset: occurs at adolescense to 30 years of age
~Infantile: occurs in infants/ babies
Adolescence: 13-19 years of age
Physiotherapy: British term for physical therapy
~Mutation: harmful change
~Macula: part of the retina
