WHAT IS PROGERIA?

Progeria is also known as Hutchinson-Gilford progeria syndrome (HGPS) or the “Benjamin Button”
disease (named after the short story and movie ‘The Curious Case of Benjamin Button’). It’s a rare
genetic condition that results in a child's body aging rapidly. A mutation in the LMNA gene causes
progeria. Most kids with progeria don’t live past age 13. The disease affects people of all sexes and
races equally. About 1 in every 4 million babies are born with it worldwide. Progeria leads to extreme
premature aging and affects many different body systems. The symptoms begin within a year of life
with poor growth and weight gain. Children with Progeria have a characteristic facial appearance
with a large head, small mouth and chin, narrow nose and large eyes. Other symptoms include
baldness, loss of fat under the skin, and dental and joint abnormalities. They also often have
symptoms typically seen in much older people including joint stiffness, hip dislocations and severe,
progressive heart disease. Intelligence is typically normal. Progeria is caused by a genetic variant in
the LMNA gene. This variant usually arises as a new change in the genetic material and is not
inherited from a parent. Diagnosis is based on the symptoms, clinical exam, and may be confirmed
by the results of genetic testing. A single mistake in a certain gene causes it to make an abnormal
protein. When cells use this protein, called progerin, they break down more easily. This leads kids
with progeria to age quickly.
SYMPTOMS
Symptoms of this disease may start to appear as a Newborn and as an
Infant. The age symptoms may begin to appear differs between
diseases. Symptoms may begin in a single age range, or during several
age ranges. The symptoms from some diseases may begin at any age.
Knowing when symptoms began to appear can help medical providers
find the correct diagnosis.

 Slow height and weight growth

 A bigger head
 Large eyes, which they can’t close all the way
 A small lower jaw
 A thin nose with a "beaked" tip
 Ears that stick out
 Veins you can see
 Slow and abnormal tooth growth
 A high-pitched voice
 Loss of body fat and muscle
 Hair loss, including eyelashes and eyebrows
 Thin, wrinkled skin that shows spots

As children with progeria get older, they get diseases you'd expect to
see in people age 50 and older, including bone loss, hardening of
the arteries, and heart disease. Children with progeria usually die
of heart attacks or strokes.
Progeria doesn't affect a child's intelligence or brain development. A child
with the condition isn't any more likely to get infections than other kids,
either.
Progeria Treatments
There's no cure for progeria, but researchers are working on finding
one. One clinical trial is looking at a kind of cancer drug, FTIs
(farnesyltransferase inhibitors), to see if it can help slow the disease.
Treatments can help ease or delay some of the disease's symptoms.
Medication and diet changes. Your child's doctor may suggest drugs
and changes to your child’s diet to lower cholesterol or prevent blood
clots. A low dose of aspirin every day can help prevent heart
attacks and stroke. Growth hormone can help build height and
weight. The FDA has approved lonafarnib (Zokinvy) to prevent the
buildup of defective progerin, which can affect the heart.
Physical and occupational therapy can help your child keep moving
if they have stiff joints or hip problems.
Surgery. Some children may have coronary bypass surgery
or angioplasty to slow the progression of heart disease.
At home. Kids with progeria are more likely to get dehydrated, so
they need to drink plenty of water, especially when they're sick or it's
hot. Small meals more often can help them eat enough, too.
Cushioned shoes or inserts can ease discomfort and encourage your
child to play and stay active.
Sunscreen. Use a broad-spectrum sunscreen with an SPF of at least
15. Reapply it every 2 hours, or more if your child is sweating or
swimming.