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Progeria - Types, Symptoms, Causes, Diagnosis, and Treatment

Published on Dec 28, 2019   -  4 min read


Progeria is a rare genetic disorder that makes a 2-year-old look like he or she is aging too fast. Read about its types, causes, symptoms, diagnosis, and treatment.

Progeria - Types, Symptoms, Causes, Diagnosis, and Treatment

What Is Progeria?

A rare genetic disorder that makes a person age prematurely is called progeria. At birth, children with progeria look normal, but within the first two years of their life, they start looking older for their age. Hutchinson-Gilford progeria syndrome (HGPS) is the classic type of progeria, which results from mutation in the lamin A (LMNA) gene. It results in atherosclerosis of the arteries at a young age, which makes these children live only an average of 13 to 14 years. Progeria is an extremely rare condition, as it affects 1 child in 20 million births. 134 children across 46 countries are believed to have progeria.

Not much was known about this disease a couple of decades back. But in 2003, after the discovery of the LMNA gene, there is hope for a cure in the future. There are many scientists who are working to develop a cure for this condition.

What Are the Types of Progeria?

The common types of progeria are:

  1. Hutchinson-Gilford progeria syndrome (HGPS) - It is the classic type of progeria, with its onset in early childhood.

  2. Werner syndrome (adult progeria) - The symptoms usually start in teenagers, and such adults live up to 40 or 50 years of age.

  3. Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) - It is the type of progeria that affects fetuses that are still in the mother’s womb.

What Are the Symptoms of Progeria?

The following are how progeria affects the child’s appearance:

The following are the health issues that they might face:

If your child is exhibiting signs of early aging, then consult a doctor immediately. Progeria is often diagnosed during a regular pediatric checkup.

What Causes Progeria?

This rare and progressive condition is caused by a genetic mutation, more specifically in the LMNA (lamin A) gene. This gene produces a protein that maintains the structural integrity cell’s nucleus. Without this strength, the cell structure becomes weak, which results in early and rapid aging. Even though this condition is caused by a genetic mutation, it is believed to be not a hereditary condition. But if one of your child has progeria, the chances of your next child getting this disorder is about 2 to 3 percent.

What Are the Complications of Progeria?

The possible complications include:

How Is Progeria Diagnosed?

This condition is diagnosed based on the signs and symptoms and physical examination. The physical examination includes:

  1. Measuring the child’s height and weight.

  2. Checking the eyesight and hearing.

  3. Measuring blood pressure.

LMNA mutations can be confirmed by a genetic test. As progeria is a very rare condition, the doctor will have no experience in treating or diagnosing this condition. So if you feel your child has progeria, make sure you ask questions for your child’s treatment plan, so that the doctor will gather all the required information.

Can Progeria Be Treated?

As of now, there is no cure for progeria. Regular monitoring of the heart is necessary to detect cardiovascular disease early on. You would have to take your kid for regular checkups, where the doctor will plot a growth chart based on your child’s height and weight.

They will also check your child’s eyesight, hearing, and dental health for any changes. To help relieve some signs and symptoms, the following treatment options might be suggested:

Future Treatment Options:

Lifestyle Changes:

To help your child with the signs and symptoms of progeria, you can:

  1. Keep your child well hydrated, as dehydration can result in fatal complications in such kids. Make sure your kid drinks enough water during hot weather and any illness.

  2. Give high-calorie foods and supplements. Make sure you give small frequent meals to increase calorie intake.

  3. Keep them active as much as possible after consulting your doctor.

  4. Make them wear cushioned shoes or shoe inserts.

  5. Use sunscreen with an SPF of at least 15.

  6. Get all vaccinations on time.

Progeria is a fatal condition, with most kids living up to 13 to 14 years of age, but some live into their 20s. This condition is fatal because of the risk of heart diseases and fragile bones. To know more about progeria, consult a doctor online now!


Frequently Asked Questions


Who Are Commonly Affected By Progeria?

Progeria is a very rare genetic disease that causes a young child's body to age rapidly. This condition is due to the mutation that is seen in the lamin A (LMNA) gene. Most of the affected children with progeria do not live more than 13 years of age. This disease affects people of all sexes and races equally.


What Are the Causes of Progeria?

A mutation in a single gene is responsible for progeria. The gene is called the lamin A (LMNA). This gene is necessary for holding the nucleus of a cell together in an intact position. When any mutation is seen in this gene, an abnormal lamina protein is formed, known as progerin. This abnormal mutation makes the cells unstable and results in progeria.


Is Progeria Hereditary?

Hutchinson-Gilford progeria syndrome is a condition that is considered to be autosomal dominant, and does not usually run in families. This condition purely results from new mutations in the lamin A (LMNA) gene and commonly occurs in individuals with no family history of progeria.


Will I Get Progeria Later in Life?

Werner’s syndrome is a type of progeroid syndrome. It is also termed as the “adult progeria.” It usually does not show any symptoms until the child reaches their late teen years. The average life span seen in these patients are 40 to 50 years, and these patients are commonly noted to get affected by mandibulofacial dysplasia.


Does Progeria Have a Definitive Cure?

No, there is no definitive cure for progeria. However, regular monitoring for heart and blood vessels for the presence or aggravation of any previously diagnosed cardiovascular diseases can significantly help in the management of the child’s condition as early as possible with minimal intervention.


Can Progeria Affect My Brain?

Though progeria affects the patient’s normal metabolism by developing insulin resistance, this condition does not impact the child's normal brain development or intellectual capabilities.


What Are the Organs That Are Affected by Progeria?

The following are the commonly affected organs in a person who is affected by progeria.
- Kidneys.
- Brain.
- Adrenal glands.
- Liver.
- Testes.
- Heart.


At What Age Can Progeria Be Diagnosed?

When a baby is born with progeria, the baby usually looks healthy, but by the age of 10 months to 24 months from birth, the accelerated clinical features of aging will be seen. Signs of progeria include stunted growth, lack of body fat, and muscle development.


Is There Any Method to Reverse Aging?

Reverse aging technology is a recent advancement that helps increase lifespan and the health of the concerned individual. This procedure can decrease the rate of incidence of certain diseases such as cardiovascular diseases, stroke, and neurodegenerative diseases such as Alzheimer’s and Parkinson’s disease.


What Can Happen to the Body When I Have Progeria?

The symptoms of progeria, especially in adult life, are less obvious to a parent. The body’s common changes are hip dislocation, cataracts, arthritis, plaque buildup in the arteries, which predisposes the individual to atherosclerosis, and heart diseases. Some children with progeria are also noted to have strokes.


Is Progeria a Contagious Disease?

Progeria is definitely not a contagious condition, and it is not passed to next generations. This condition is primarily due to genetic defects. So social discrimination of these individuals due to the thought that this condition can spread should be avoided.


Is Progeria More Common in Any Specific Ethnicity?

According to the data provided by the Progeria Research Foundation, there are almost 350 to 400 children affected by progeria worldwide. Progeria is noted to affect boys and girls equally and is not specific to any race.


What Are the Types of Progeria?

There are two broadly classified types of progeria. They are the Hutchinson-Gilford progeria syndrome (HGPS), which begins its onset in early childhood, and Werner syndrome, also known as the adult progeria. It is known to occur later.


Is Progeria a Disability?

Hutchinson-Gilford Progeria Syndrome is one of the diseases that fulfill the requirement for a disability. The affected individuals can process claims under the compassionate allowances and certain other privileges in the social norms.


How Can Progeria Be Prevented?

Most children affected with this condition die from heart conditions before the age of twenty. There is no treatment for progeria to date. But various studies have now discovered that inhibiting an enzyme known as ICMT can prevent progeria in mice. This has to be clinically tested in humans yet.


Is There Any Possibility of Diagnosing Progeria Before Birth?

Progeria can be detected only in infancy or the early childhood period. This condition is frequently detected during regular checkups of babies, where the baby first shows the significant signs of premature aging. It is not possible to diagnose before birth.

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Last reviewed at:
28 Dec 2019  -  4 min read




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