Tay-Sachs Disease

By: Alexia Morales

Who Discovered It?
In 1881 Warren Tay, a British ophthalmologist observed a cherry red spot
in the retina of a one year old child with mental and physical retardation.

In 1896 Bernard Sachs, an American neurologist observed extreme swelling

of neurons in autopsy tissue from affected children
Diagnosis
Tay-Sachs disease is diagnosed through a simple blood test that tests the
Hexosaminidase A ( Hex A ) levels in the blood. A DNA test can also be
administered to determine whether or not a person has Tay- Sachs.

Children with infantile Tay-Sachs are often diagnosed by a characteristic red dot
found on the retina of the eye.

Tay-Sachs is a Heredity disease, so in order to get it both parents must be carriers of

the gene.
Symptoms
Blindness

Seizures

Loss of motor skills

Dementia

Slow growth

Increased startle reaction

Paralysis or loss of muscle function

Causes
Tay-Sachs disease is caused when a person is born with a mutation in their Hex A
gene, the gene in your DNA that provides the instructions to create the enzyme
beta-hexosaminidase.

People born with Tay-Sachs disease are born without or with very reduced levels of
beta-hexosaminidase enzyme, which cause the lipid GM2 ganglioside to build up
in cells which causes damage to the cells over time

Also children with Tay-Sachs disease rarely live beyond 4 years of age
Treatments
There is no cure for Tay-Sachs yet but there are ways of making life more
comfortable for those living with the disease such as symptom management
methods and massage therapy
Prognosis
There is no treatment for this disease but there are ways of making life more
comfortable for those living with it.

Massage therapy is used to promote relaxation

Feeding Tubes for those who have lost the ability to eat or swallow

Wheelchairs, canes and walkers for those facing mobility difficulties

Support groups to provide help and care to families and those suffering from the
disease
Tay-Sachs disease is an autosomal recessive genetic disorder.
Reference
https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024672/

http://kidshealth.org/en/parents/tay-sachs.html