PROGERIA(Hutchinson-Gilford Progeria Syndrome)

What is progeria? It is a progressive genetic disorder that causes children to age

rapidly, beginning in their first two years of life.

Children with progeria generally appear normal at birth. By 12

months, signs and symptoms, such as slow growth and hair

loss, begin to appear.

Signs of progeria may include:

Loss of body fat and muscle

Early signs of skin aging

Stiffness in the joints

Hip dislocation

Visible veins

Generalized atherosclerosis, leading to cardiovascular

and heart disease

The average life expectancy for a child

with Progeria is about 13, but some with

the disease die younger and some live 20

years or longer.

How is Progeria inherited?

Researchers have discovered a single gene

mutation responsible for Progeria.

HGPS is caused by a mutation in the gene

called LMNA. Researchers now believe

that the defective Lamin A protein makes

the nucleus unstable.

The cellular instability appears to lead to

the process of premature aging in

Progeria.

What chromosomes does it affect?

HGPS is “sporadic autosomal dominant”

mutation.

It affects chromosome 1. It is a

substitution mutation in one allele of

chromosome 1.

The allele that is substituted is usually a

cytosine and it is substituted by a thymine.

Treatments:

There is no known cure for Progeria

The child usually just takes medication to

get rid or to slow down the symptoms of

Progeria.

TAY-SACHS DISEASE

Classic Infantile Juvanile Late Onset

Symptoms usually occur

when the child is about

6months old.

Symptoms begin to occur

sometimes during

childhood.

Adults with Late Onset

Tay-Sachs may have first

showing signs during their

childhood, such as speech

impediments or just not

being very athletic or

strong.

It starts out with slowed

development and the

gradual loss in skills such

as coordination,

swallowing and breathing

and reduced vision.

Early symptoms include

slurred speech, muscle

weakness, swallowing and

breathing difficulties.

Symptoms that occur

during adulthood maybe

muscle weakness and

mental health problems.

These then progress into a

decline in mobility and

breathing swallowing

difficulties.

By the time the child has

reached 2 years of age, they

may experience seizures as

well as loss of mental and

muscle functions.

Later symptoms include a

decline or loss in the ability

to walk, eat and

communicate and are very

prone to respiratory

diseases, pneumonia and

seizures.

Diagnosis:

Children with infantile Tay-Sachs are

often diagnosed by a characteristic “red

dot” found on the retina of the eye.

Tay-Sachs is a hereditary disease, so in

order to get it both parents must be

carriers of the gene.

Causes:

A defective gene on chromosome 15 (HEX-A) causes Tay-Sachs disease. This defective gene causes the body to not make a protein called hexosaminidase A. Without this protein, chemicals called gangliosidesbuild up in nerve cells in the brain, destroying brain cells.

The disease is hereditary, which means it is passed down through families. You have to receive two copies of the defective gene — one from each parent — to become affected. If only one parent passes down the defective gene, the child becomes a carrier. They will not be affected, but may pass the disease down to their own children.

Treatments:

Unfortunately, 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:

-massage therapy

-feeding tubes

-wheelchairs, canes and walkers

-support groups to provide help and care to

families and those suffering from the disease