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.
Facts behind Progeria Syndrome
- Progeria syndrome is a genetic disorder. The victim has an advanced appearance of aging. The symptoms of progeria syndrome arise in the beginning of childhood.
- The affected person usually become thin, has hooked and sharp nose, thin lips, over hanged eras and prominent eyes. Other non-facial symptoms are joint abnormalities, hair loss, aged-looking skin, loss of fat under the skin, but the child's motor skills and intellect are generally same as a normal child.
- The cases of progeria syndrome are very exceptional, because only 130 people have been detected since 1886.
- An unnatural laminA protein is responsible for the alteration of LMNA gene and it is the cause of Hutchinson-Gilford or progeria syndrome.
- As LMNA is an autosomal dominant gene, even a replica of the LMNA gene is sufficient for causing progeria syndrome.
- Progeria syndrome may lead several complications, such as it makes hard the arteries from the staring of the childhood. It increases the possibilities of stroke or heart attack in the early stage of life. The average life expectancy for the victims of progeria syndrome is about thirteen years.
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.
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 (center) 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 of the 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.
Signs and Symptoms of Progeria Syndrome
Generally, the growth during the first year after the birth of the baby with progeria syndrome occurs very slowly, but the intelligence and motor development continues to be normal.
The symptoms and signs of progeria syndrome contain unique forms:
- Below average weight and height with very slow growth is a major symptom of progeria syndrome.
- Lower and small jaw, narrowed face, beaked nose and thin lips.
- Disproportionately large head for face is a sign of progeria syndrome.
- Too big eyes with too short eyelids to close eyes properly.
- Losing of hair, including eyebrows and eyelashes is a sign of progeria syndrome.
- Thinning, wrinkled, spotty skin.
- Noticeable veins and sharp voice is a symptom of progeria syndrome.
Symptoms and signs of progeria syndrome are also related to health issues:
- Tightening and hardening the skin of the body and also extremities which is similar to scleroderma.
- Formation of abnormal and delayed teeth
- Partial loss of hearing
- Loss of muscle mass and loss of fat under the skin
- Weak and breakable bones
- Joint stiffness
- Dislocation of hip
- Resistance to insulin
- Severe cardiovascular (blood-vessel) and heart disease.
When is the Time to Contact a Doctor for Progeria Syndrome?
Take an appointment or call a doctor when you are noticing that your child is not developing or growing normally with the problems of slowed growth, skin changes and hair loss.
Complications of Progeria Syndrome
Generally, severe types of hardening of the arteries develop in those who are suffering from progeria syndrome. In this condition, the walls of the arteries become thicken and stiffened. So, the blood cannot flow properly. Usually, the blood vessels carry oxygen and nutrients from the heart and supplies to the rest of the body.
Nearly all kids with progeria syndrome pass away because of the problems of associated to atherosclerosis. Such as:
- Due to cardiovascular problem or problem of blood vessels, congestive heart failure or heart attack occurs and is a major complication of progeria syndrome.
- When the problem occurs in those blood vessels which supply it to the brain is called cerebrovascular problems. This problem leads to brain stroke and is a complication for progeria syndrome.
In addition, another health problem which is normally related to aging, for instance near sightedness, increased risk of cancer and arthritis do not grow as a part of the process of progeria syndrome.
Tests to Diagnose Progeria Syndrome
Physicians may guess progeria syndrome based on the symptoms and signs characteristic of this disorder. To verify the diagnosis, the physician of your child may suggest genetic testing for progeria syndrome. An LMNA mutation which is a genetic test can be done to get confirmed about the disease of progeria syndrome.
Consulting a Doctor for Progeria Syndrome
Generally, the case of progeria syndrome is identified in the early infancy or in babyhood when a newborn shows first the distinctive symptoms of premature aging. These symptoms can be detected when the family doctor or the pediatrician of your child will notice these at the time of regular health check-up.
On the other hand, you may also notice the changes of your child which could be the symptoms and signs of progeria syndrome, and then you may take a consultation with the doctor of your child. After the evaluation, your baby may be referred to a clinical genetics specialist. Below is some information that can help you in taking preparation for a meeting with a doctor.
Your duties before you go to the doctor for progeria syndrome:
- Write down the symptoms and signs of your child which they are experiencing, and for how long they are experiencing it.
- Make the questions which you want to know from your doctor for progeria syndrome.
- Ask for a reliable member of your family or friend to go with you at the time of your child's appointment. In fact, it may be hard focus on the doctor's advice or instruction after knowing the disease. So, take somebody along with you who can give you emotional support at that time and can help you to remember the information.
Some basic questions which you can ask your doctor, if it detected as progeria syndrome:
- What are the probable causes of the symptoms and signs of my child?
- What are the other potential causes for this disease?
- What types of clinical tests require for progeria syndrome?
- Whether the treatments are available for progeria syndrome?
- What are the ways to provide relief to my child from these symptoms?
- What are the problems of this situation?
- Are the other members of my family or my children are prone to progeria syndrome?
- Are there any new progressive clinical tests for the improvement of progeria syndrome?
- Do you advise for consulting a specialist to treat progeria syndrome?
- How can be recognized the other members of the family who are dealing with progeria syndrome?
Expectations from your physician for progeria syndrome:
Your physician will execute a through physical test of your child for progeria syndrome, such as:
- Measuring weight and height and comparing it with normal and average child.
- Mapping the measurements on a standard curve chart of growth.
- Taking vision and hearing test for progeria syndrome.
- Checking some vital symptoms, including BP (Blood Pressure) for progeria syndrome.
- Seeking out the noticeable symptoms and signs which are distinctive of progeria syndrome.
Never hesitate to make questions, because progeria syndrome is a very rare disease. Actually, the doctor also may require collecting more info before taking decision for the next steps to take care for progeria syndrome. Your concerns and questions can help your physicians to make a list of issues to examine.
At the time of follow-up visits, the height and weight of your child will be checked and the measurement will be mapped on the chart of normal development values. Other regular estimations, including vision, hearing, dental exams, and electrocardiograms may be suggested by the physician to get the proper result for any changes.