By: Jacky Monrroy
And Monica Barragan
What do you know about genetic disorders in
general?
We know that it is a disorder that is caused by
a change in a gene, that causes “premature
aging.”
What do you want to find out about this
disease?
We want to know how long the child lives with
this disorder, the child’s lifestyle, and if the
disorder has a cure.
Progeria is a rare, fatal
genetic disorder that is
characterized by an
appearance of accelerated
aging in children.
About 1 in 4-8 million newborns are affected.
Affects both sexes equally throughout the world.
The children are usually born looking healthy, but
symptoms begin to display around the age of 2. (1824 months.)
The disorder is caused by a
mutation in a gene called
LMNA. The LMNA gene
produces the Lamin A
protein that holds the
nucleus of a cell together
The defective Lamin A
protein makes the nucleus
unstable
How did the child get the
disorder?
There is an 88% survival rate
for patients after six years of
treatment. Children usually die
within the ages of 8-21. without
treatment, they can die at really
young ages
Genetic Counselor
What is the survival rate? Is
it treatable?
There is presently no
treatment to prevent this
disorder, treatment plans
are individualized. The
plans can include physical
therapy to minimize joint
stiffness.
What are the treatments, if
any for this disorder?
Dietary treatments tube
feeding for infants and
supplements to help reduce
weight loss. Low-dose daily
aspirin is recommended to
prevent stroke and heart
attacks.
Genetic Counsel
Besides the symptoms,
which tests can be done
to diagnose the disorder?
Genetic testing can be
carried to detect
mutations in the Lamin
A gene
What biotechnical
applications are
currently being used in
the fight against the
disease?
What is the type of disordergene or chromosomal? Is it
dominant or recessive?
It is a dominant gene disorder.
What other names or
abbreviations are used for
the disorder?
Hutchinson-Gilford Progeria
Syndrome is another name.
(HGPS)
What different tests could
have been provided to the
parent to have found out
about this disorder before its
birth?
Genetic testing could have
been done. This would have
helped the parents to see
earlier that their child was
sick. The child could have
been treated earlier.
What are the signs and symptons of
the disorder, including a description
of how it affects the human body?
Symptoms include:
Early aging of the body
Slow growth
Poor weight gain
Loss of body fat
Wrinkled skin
Loss of hair (includes eyebrows and
eyelashes)
Stiffness of joints (joint abnormalities)
Abnormal Teeth
Premature eruption of adult teeth
Hip dislocation
Head that is too large for face
(Symptoms don’t usually start to appear
until child is 2 years old )
What kind of lifestyle will your child live?
Most children affected with progeria have to be
tube-fed, given dietary treatments and
supplements to help reduce the loss of weight,
and aspirin to prevent heart attacks and strokes.
How long will your child live?
Children that are treated can live until they are
21, but can die as early as age 8. Children that
are not treated can die earlier than age 8 or can
live until ages 13 or 14.
Will your child be able to have children? Will they be
affected with the disorder?
No, they cannot have children, since most of them
die at an early age. If they were to have children it is
not likely for their child to have progeria, since the
disorder doesn’t normally run in families.
What is the probability that your next child will be
affected with progeria?
Progeria is not usually passed down in families. The
gene change is a sporadic mutation.
Prenatal testing for
progeria is possible using
amniocentesis. However,
because the disease is not
passed down genetically
and is extremely rare,
there would be little
reason to perform this
testing.