Tay-Sachs Disease

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A Tay

Sachs Carrier

Section of brain tissue from patient with

Tay-Sachs Disease
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What is Tay-Sachs Disease?

A baby with Tay-Sachs disease appears

healthy at
for a few

birth, and seems to be developing

normally

months. Symptoms generally appear by six months of age. While symptoms vary from one child to the next, there is

always a

slowing down

of development. Gradually, Tay-

Sachs children lose motor skills and mental functions. Over time, the child becomes

paralyzed
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and

non responsive
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blind, deaf, mentally retarded,

to the environment. TayNEXT

Sachs children usually

die by age five.

Children with Tay-Sachs disease lack a vital enzyme, hexosaminidase A (Hex-A). Hex-A is needed for the body to b r e a k d o w n a fatty waste substance found in Hex-A, this

brain

cells. Without accumulates

substance

abnormally
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and causes progressive damage

until the nervous system can no longer sustain life.

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What are the symptoms?

Deafness
Decreased eye contact, blindness
Decreased muscle tone Dementia

Irritability

Listlessness
Paralysis or loss of muscle function

Delayed mental and social skills

Loss of motor skill

Seizures

ncreased startle reaction

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Slow growth
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F.Y.I
Dementia is a loss of brain function that occurs with certain diseases. It affects memory, thinking, language, judgment, and behavior.

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Is there any treatment?

Presently there is no

treatment

for

Tay-Sachs disease.

Anticonvulsant medicine may initially control seizures. Other supportive

treatment includes proper

hydration and techniques to keep the airway

nutrition

and

open. Children may eventually need a feeding tube.

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How to prevent Tay-Sachs Disease?

There is no known way to

prevent

disorder. Genetic testing can detect if you are a of the gene for this disorder. If you or your partner are from
an at-risk population, it is

carrier

this

recommended that

you

undergo testing before starting a

amniotic fluid can diagnose

family. Testing the

in the

Tay-Sachs disease

womb.

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TRIVIAS

Warren Tay and Bernard Sachs Prognosis Tay-Sachs Disease

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Warren Tay and Bernard Sachs

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Prognosis
Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.

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Tay-Sachs Disease
Tay-Sachs Disease is also known as GM2 gangliosidosis or Hexosaminidase A deficiency

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