What is Progeria Syndrome?

Progeria syndrome is a genetic disorder which is progressive. It is also identified as

Hutchinson-Gilford syndrome. It is a very rare, and gradually advancing genetic
disorder. Children with progeria syndrome get matured/ older rapidly within the first
two years after their birth.
Generally, children suffer from the progeria syndrome since their birth. During the first
year of the newborn, signs and symptoms, such as hair loss and slow growth starts to
appear.
Most of the children with progeria syndrome die because of stroke or heart diseases.
About 13 years is the average life calculation of the children suffering from progeria
syndrome, but some of children who are suffering from this genetic disorder die in
younger age, on the other hand some of them live 20 years or longer.
Though, there is no cure for progeria syndrome which is a genetic disorder, but
continuous research shows some promising treatment.
How Common is Progeria Syndrome?

As per reports, progeria syndrome is not so common. About one newborn in four
million newborns are affected by this disorder all around the world. This condition was
described first in 1886. Since then, more than 130 cases of progeria syndrome have
been recorded.
Is There a Cure for Progeria Syndrome?

When the first medical drug applied on those children who are experiencing rare rapid-
aging disease showed successful result with the drug Farnesyl Transferase Inhibitor
(FTI). This drug is applied to treat cancer.
The medical trial results showed important improvements in the cases of weight gain,
bone structure, cardiovascular system. This information has collected from the
research paper published in Proceedings of the Natural Academy of Sciences.
What is the Life Expectancy of a Child with Progeria Syndrome?

Strokes or Heart problems are the ultimate reasons of death in most of the patients of
progeria syndrome. The average life-span of these cases is about 13 years. In some
cases, the patients of progeria syndrome live twenty years or more and some also die
before 13 years of age because of the disease.
Diagnosis

Doctors may suspect progeria based on signs and symptoms characteristic of the
syndrome. A genetic test for LMNA mutations can confirm the diagnosis of progeria.

A thorough physical exam of the child includes:

Measuring height and weight

Plotting measurements on a normal growth curve chart
Testing hearing and vision
Measuring vital signs, including blood pressure
Looking for visible signs and symptoms that are typical of progeria

Causes of Progeria Syndrome

It has been discovered by the researchers that progeria syndrome is caused for the
mutation of a single gene. The gene is known as (LMNA) lamin A. It makes a protein
which is necessary for holding together the nucleus of a cell. According to the
researchers, the mutation of a defective gene makes the cells unsteady and it leads to
process of Progeria's aging.
Progeria syndrome is not hereditary like other genetic mutations. Researchers believe
that if a single egg or sperm affects at the time of conception then the change of gene
occurs. Parents are not the carrier, even then the occurrence of the mutations in the
child's gene and these new cases of mutations are known de novo.
Conditions which are Similar to Progeria Syndrome
There are some similar conditions of progeria syndrome which runs in the members
family. These hereditary syndromes are responsible for growing old quickly and getting
reduced life-time:
Wiedemann-Rautenstrauch syndrome is similar to progeria syndrome which is also
identified as neonatal progeroid syndrome begins in the womb with symptoms and
signs of aging and it noticed at the time of birth.
The Werner syndrome similar to progeria syndrome starts in the early adulthood or
teen years and leads to early aging. The common signs of old age, like diabetes and
cataracts are experienced.
Symptoms

Usually within the first year of life, growth of a child with progeria slows markedly, but
motor development and intelligence remain normal.

Signs and symptoms of this progressive disorder include a distinctive appearance:

Slowed growth, with below-average height and weight

Narrowed face, small lower jaw, thin lips and beaked nose
Head disproportionately large for the face
Prominent eyes and incomplete closure of the eyelids
Hair loss, including eyelashes and eyebrows
Thinning, spotty, wrinkled skin
Visible veins
High-pitched voice
Signs and symptoms also include health issues:

Severe progressive heart and blood vessel (cardiovascular) disease

Hardening and tightening of skin on the trunk and extremities (similar to scleroderma)
Delayed and abnormal tooth formation
Some hearing loss
Loss of fat under the skin and loss of muscle mass
Skeletal abnormalities and fragile bones
Stiff joints
Hip dislocation
Insulin resistance

Treatment
There's no cure for progeria, but regular monitoring for heart and blood vessel (cardiovascular)
disease may help with managing your child's condition.

During medical visits, your child's weight and height is measured and plotted on a chart of
normal growth values. Additional regular evaluations, including electrocardiograms and dental,
vision and hearing exams, may be recommended by your doctor to check for changes.

Certain therapies may ease or delay some of the signs and symptoms. Treatments depend on
your child's condition and symptoms. These may include:

Low-dose aspirin. A daily dose may help prevent heart attacks and stroke.

Other medications. Depending on your child's condition, the doctor may prescribe other
medications, such as statins to lower cholesterol, drugs to lower blood pressure,
anticoagulants to help prevent blood clots, and medications to treat headaches and seizures.

Physical and occupational therapy. These therapies may help with joint stiffness and hip
problems to help your child remain active.

Nutrition. Nutritious, high-calorie foods and supplements can help maintain adequate
nutrition.

Dental care. Dental problems are common in progeria. Consultation with a pediatric dentist
experienced with progeria is recommended.

Potential future treatment

Current research seeks to understand progeria and identify new treatment options. Some
areas of research include:

Studying genes and the course of the disease to understand how it progresses. This may help
identify new treatments.

Studying ways to prevent heart and blood vessel disease.

Performing human clinical trials using drugs known as farnesyltransferase inhibitors (FTIs),
such as lonafarnib, which were developed for treating cancer, but may be effective for
treatment of progeria by helping with weight gain and increased flexibility of blood vessels.

Testing other drugs for treatment of progeria.

Risk factors
There are no known factors, such as lifestyle or environmental issues, which increase the risk
of having progeria or of giving birth to a child with progeria. Progeria is extremely rare. For
parents who have had one child with progeria, the chances of having a second child with
progeria are about 2 to 3 percent.

Complications

Children with progeria usually develop severe hardening of the arteries (atherosclerosis). This
is a condition in which the walls of the arteries — blood vessels that carry nutrients and oxygen
from the heart to the rest of the body — stiffen and thicken, often restricting blood flow.

Most children with progeria die of complications related to atherosclerosis, including:

Problems with blood vessels that supply the heart (cardiovascular problems), resulting in heart
attack and congestive heart failure

Problems with blood vessels that supply the brain (cerebrovascular problems), resulting in
stroke

Other health problems frequently associated with aging — such as arthritis, cataracts and
increased cancer risk — typically do not develop as part of the course of progeria.

Lifestyle and home remedies

Make sure your child stays well-hydrated. Dehydration can be more serious in children with
progeria. Be sure your child drinks plenty of water, especially during an illness, with activity or
in hot weather.

Provide frequent, small meals. Because nutrition and growth can be an issue for children with
progeria, giving your child smaller meals more often may help increase calorie intake. Add
healthy, high-calorie foods and snacks or supplements as needed.

Provide opportunities for regular physical activity. Check with your child's doctor to learn
which activities are appropriate for your child.

Get cushioned shoes or shoe inserts for your child. The loss of body fat in the feet can cause
discomfort.

Use sunscreen. Use a broad-spectrum sunscreen with an SPF of at least 15. Apply sunscreen
generously, and reapply every two hours — or more often if your child is swimming or
perspiring.

Make sure your child is up to date on childhood immunizations. A child with progeria isn't at
increased risk of infection, but like all children, is at risk if exposed to infectious diseases.

Provide learning and social opportunities. Progeria won't affect your child's intellect, so he or
she can attend school at an age-appropriate level. Some adaptations for size and ability may
be needed.
Make adaptations. You may need to make some changes at home that enable your child to
have some independence and to be comfortable. These can include household changes so that
your child can reach items such as faucets or light switches, clothes with special closures or in
special sizes, and extra padding for chairs and beds.