What is Progeria? What causes it and what are the symptoms?

Hutchinson-Gilford syndrome, also known as premature aging disease, occurs due to problems in genes. In this content, we have examined in detail the causes, symptoms and treatment of progeria, which also exists in Turkey.

this is all about progeria…

What is Progeria?

Progeria is a rare genetic disorder that accelerates the aging process. Progeria, whose full name is Hutchinson-Gilford Progeria Syndrome (HGPS), occurs mainly in children and causes a range of health problems that show signs of rapid aging.

Progeria usually presents with symptoms indicating that babies or young children are aging faster than normal. These symptoms include slow growth, short stature, hair loss, early baldness, brittle bones, joint stiffness, skin problems and cardiovascular disease. Also, people with progeria may have health problems related to the aging process, such as heart attacks, strokes, or heart failure.

Progeria is usually caused by a mutation in the LMNA gene. This gene encodes lamin A, a protein that regulates the structure of the nuclear membrane in the cell nucleus. The mutation affects the normal function of the lamin A protein and prevents cells from dividing and functioning in a healthy way. As a result, the aging process in cells accelerates and signs of progeria appear.

Although progeria is a genetic condition, it usually doesn’t run in families. It usually arises spontaneously. Most children with progeria come from healthy families and show no genetic inheritance.

Unfortunately, progeria is not yet a completely curable disease. However, research shows that some approaches have been developed to relieve the symptoms associated with progeria and improve quality of life. For example, some medications and treatments can prolong life and relieve symptoms. There are also support groups and resources for progeria patients and their families.

What Are the Symptoms of Progeria?


Progeria is a rare genetic condition known as rapid aging syndrome. Children with this syndrome experience a much faster version of normal aging. Here are some symptoms of progeria:

Slow growth

Progeria patients show slow growth and development compared to normal children. They may lag behind their age in height and weight.

short stature

Progeria patients are usually shorter than normal. The length remains below expectations for their age.

Hair loss

Hair loss or thin hair is a common symptom in people with progeria. Hair thins, breaks and can fall out completely over time.

Early baldness

Progeria can be associated with early baldness. Hair loss usually starts in the upper part of the head and progresses gradually.

Fragile bones

The bones of people with progeria can be fragile. This condition causes bones to be weak and break easily. Fractures are common and occur during normal activities.

Joint stiffness

People with progeria may experience joint stiffness or limitations in joint movement. This can make daily activities difficult and limit their mobility.

Skin problems

Progeria patients are often affected by skin problems. Dry skin, wrinkles, spots and blemishes are among the most common symptoms.

Heart and vascular disease

Progeria can have adverse effects on the cardiovascular system. Problems such as thickening of the heart muscle, hardening of the arteries, and plaque buildup can arise. This increases the risk of heart attack, stroke, or heart failure in progeria patients.

What Causes Progeria?


Progeria is a rare disease also known as Hutchinson-Gilford Progeria Syndrome (HGPS), a genetic disorder. The main cause of this disease is mutations in the LMNA gene.

The LMNA gene encodes lamin A, a protein that regulates the structure of the nuclear membrane in the cell nucleus. The normal function of the lamin A protein is to ensure healthy division, formation and function of cells. However, mutations in the LMNA gene in progeria patients prevent the lamin A protein from being produced or functioning properly.

As a result of this mutation, the healthy aging process of cells is disrupted and signs of rapid aging appear. Exactly how and why the mutation occurs is still not fully understood. Usually these mutations occur spontaneously, that is, they do not show familial inheritance. People with progeria usually do not have these mutations in their family.

Scientists are studying how mutations caused by Progeria disease affect the normal functions of the lamin A protein. Mutations accelerate the aging process in cells, leading to various health problems. In particular, its effects on the cardiovascular system can significantly affect the quality and life of patients with progeria.

Although progeria is a genetic condition, it usually doesn’t run in families. That is, even if the parents do not have progeria, their children can develop it. Mutations occur spontaneously and in rare cases may affect more than one family member.

How does Progeria treatment work?


Progeria is a rare disease also known as Hutchinson-Gilford Progeria Syndrome (HGPS), a genetic disorder. Unfortunately, progeria is not yet a completely curable disease. However, there are some treatment methods to relieve symptoms and improve quality of life.

Several approaches are used to treat progeria:

Management of symptoms

Symptomatic treatments are applied to cope with the symptoms that occur in patients with progeria. For example, physical therapy and exercise programs can be used to relieve joint stiffness or pain. Moisturizing creams, sunscreens and special skin care may be recommended for skin problems.

Drug treatments

Some medications can extend the life of people with progeria and relieve their symptoms. For example, statins can be used to reduce the risk of atherosclerosis (hardening of the arteries). Other medications related to cardiovascular problems may also be used.

Supportive care

Supportive care and counseling services are important for progeria patients and their families. This can help meet physical, emotional, and psychosocial needs. Support groups can allow families to communicate with each other and share their experiences.

Research and clinical studies

Research into progeria disease continues. Efforts to develop new treatments and drugs continue as scientists try to learn more about the causes and consequences of progeria. Participation in clinical trials may increase the likelihood that progeria patients will benefit from new treatments.

One of the biggest challenges in treating progeria is that the disease is a genetic condition. Therefore, advanced technologies such as genetic engineering and gene therapy may be promising approaches in the treatment of progeria in the future.

Considerations for children with progeria


Progeria is a rare genetic condition known as rapid aging syndrome. Special attention and care are required to support the quality of life and health of children with this disease. Here are some points to keep in mind with children with progeria:

Nutrition and hydration

A healthy diet is important to support the general health of progeria patients. A balanced diet helps provide the nutrients the body needs. Drinking enough water is also important to maintain hydration.

Physical activity and physiotherapy

Physical activity is important for progeria patients to strengthen muscles, increase joint mobility, and improve overall health. However, the activities must be adapted to the strength and ability of the patient. Physical therapy programs can help maintain and improve physical function in people with progeria.

Skin care

The skin of people with progeria can often be sensitive. Using moisturizers is important to prevent dry skin and support skin health. The use of sunscreen also protects the skin against the harmful effects of the sun.

Regular doctor checks

Progeria patients should visit the doctor regularly. These checkups are important to follow the course of the disease, detect health problems and plan the necessary treatments. Routine blood tests, cardiovascular evaluations, and other medical tests may be performed.

Psychosocial support

Psychosocial support is important for progeria patients and their families. Building support networks is important for coping with illness, coping with emotional challenges, and maintaining social connections. Support groups, counseling services, and similar resources can help in this area.

Safety precautions

It is important to take safety precautions around progeria patients. There may be an increased risk of falls and injuries due to brittle bones and movement restrictions. It is important to take safety precautions at home to avoid potential dangers.

Progeria in Turkey


Progeria disease, which is very rare in the world, is estimated to affect four people in Turkey. Experts say individuals with this disease should also do at least some of the activities their peers do. In addition, they should be supported in this process and treated carefully.

Few studies have been conducted on progeria in Turkey, but there are many ongoing studies around the world. In one, all progeria patients worldwide are identified and their common points are analyzed. Accordingly, an attempt is made to produce a solution.

How long does a progeria patient live?

The life expectancy of a child with progeria is very short. A person with this disease, who in normal times is expected to live for 80 years, dies at the age of 12-13 years.

What Causes Progeria Disease?

This disease is caused by a mutation in a gene called Lamin A or progerin. Due to this disease, hardening of the arteries is seen at an early age. As a result, symptoms of the disease appear.

How is progeria understood?

Understanding progeria disease is possible thanks to a different appearance than usual. Babies with this disease have below-average height and weight, a narrow face, a small lower jaw, a beak-pointed nose, and thin lips.

Is there a cure for progeria disease?

There is currently no definitive method of treating progeria disease. The treatment of progeria patients whose height and weight development is slower than their peers is aimed at prolonging this lifespan.

How many people have progeria?

One of the very rare diseases, progeria, is found in only 130 people worldwide.

Is progeria genetic?

Progeria is a genetic disease. This disease, also called premature aging, is congenital.

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