What is progeria?
Progeria is a rare genetic disorder that causes children to age rapidly starting in their first two years of life.
Many children with progeria look normal at birth. During the first year, signs and symptoms such as slow growth and hair loss begin to appear.
Progeria is a disease that leads to heart problems or strokes in most children. The average life expectancy for a child with progeria is about 13 years. Some children with the condition may die younger, while others may live longer even up to 20 years.
Progeria is not a cure, but ongoing research shows that there might be some potential treatments available.
Explanation of medical terms and concepts Progeria
Progeria is additionally referred to as Hutchinson-Gilford abnormal condition syndrome (HGPS) or the “Benjamin Button” malady (named when the story and motion-picture show ‘The Curious Case of Benjamin Button’). It’s a rare genetic condition that leads to a juvenile body aging chop-chop. A mutation within the LMNA factor causes abnormal conditions. Most children with abnormal conditions don’t live past age thirteen. The malady affects folks of all sexes and races equally. regarding one in each four million babies area unit born with it worldwide.
A single mistake associate degree exceedingly a very} sure factor causes it to form an abnormal macromolecule. Once cells use this macromolecule, referred to as progerin, they break down additionally. This leads youngsters with abnormal conditions to age quickly.
The syndrome of premature aging Children with progeria are extremely short and thin have narrow faces large heads and prominent jawbones They often suffer from a variety of health problems including baldness vertebral defects cataracts in the eyes heart defects and joint degeneration Many children die at an early age It is estimated that the disease affects about 1 in every 4 million births
: A Rare Fatal Disease Progeria is a rare fatal genetic disorder characterized by extreme aging appearing in children and young adults The disease leaves its victims looking like they are 90 years old by the time they turn 10. It's caused by a defect that prevents production of certain enzymes responsible for breaking down damaging molecules known as free radicals As a result cells experience damage that leads to organ failure over time Currently there is no cure and few treatment options available for Progeria patients Common symptoms include: short stature low body weight with prominent ribs and protruding abdomen; small head with thinning hair;
Symptoms Progeria
Progressive infantile-onset neurodegenerative disease (PID) typically slows the growth of a child within the first year of life, but motor development and intelligence remain normal.
This disorder has a distinctive appearance and signs and symptoms include a change in appearance.
A child with slowed growth may have lower than average height and weight.
The person on the right has a narrow face, a small lower jaw, thin lips, and a beaked nose.
The head is disproportionately large for the face.
The eyes have prominent features and the eyelids do not close completely.
Eyelashes and eyebrows may fall out because of hair loss.
Thinning, spotty, wrinkled skin
Visible veins
High-pitched voice
Health issues can also accompany signs and symptoms:
Heart and blood vessel disease that gets worse over time is called severe progressive heart and blood vessel disease.
Scleroderma is a condition that can cause hardening and tightening of skin on the trunk and extremities.
Delayed and abnormal tooth formation
Some hearing loss
Loss of fat and muscle can occur when there is a loss of body fat or muscle.
People with skeletal abnormalities and fragile bones may have difficulty walking and moving around.
Stiff joints
Hip dislocation
Insulin resistance
When to see a doctor
Progeria is a condition that usually occurs in infancy or early childhood. It is often detected at regular checkups when a baby first shows the signs of premature aging.
If you notice any changes in your child--such as a dramatic increase in maturity or development--or if you have any concerns about your child's growth, make an appointment with your child's doctor.
Causes Progeria
Progeria is caused by a single gene mutation. This gene is responsible for making a protein necessary for holding cells together. When the gene has a defect (mutation), an abnormal form of the protein called progerin is produced and makes cells unstable. This seems to cause premature aging in those who suffer from progeria.
Progeria is a rare genetic mutation that occurs in the majority of cases. Unlike some genetic mutations, progeria cannot usually be passed down from parents to children.
Other similar syndromes
Progeroid syndromes are also inherited disorders that cause rapid aging and a shortened life span.
Wiedemann-Rautenstrauch syndrome,Neonatal progeroid syndrome, starts in the womb and has signs and symptoms of aging that are apparent at birth.
Werner syndrome,Premature aging and conditions typical of old age, such as cataracts and diabetes, can begin in the teen years or early adulthood in people with adult progeria.
Risk factors Progeria
Progeria is a rare disorder and there are no known factors that increase your risk of having it or giving birth to a child with it. 3% is the percentage of oil that is in a ripe olive fruit.
Complications
Children with progeria often develop a condition in which the walls of their arteries harden, often restricting blood flow.
Progeria is a genetic condition that can lead to complications such as atherosclerosis. These complications can include death.
Having problems with blood vessels that supply the heart (cardiovascular problems) can lead to a heart attack or congestive heart failure.
A problem with the blood vessels that supply the brain (cerebrovascular problems) can cause a stroke.
Progeria is not typically associated with other health problems, such as arthritis, cataracts, and an increased risk of cancer.
Diagnosis Progeria
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 your 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
Don't hesitate to ask questions. Progeria is a very rare disease, and it's likely that your doctor will need to gather more information before determining next steps in caring for your child. Your questions and concerns can help your doctor develop a list of topics to investigate.
Treatment Progeria
There is no cure for progeria, but regular monitoring for heart and blood vessel disease may help manage 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.Good, nutritious foods that are high in calories can help maintain adequate nutrition.
Dental care. Dental problems are common in progeria. Consultation with a pediatric dentist experienced with progeria is recommended.
Possible future treatment
Current research seeks to understand progeria and identify new treatment options. Some areas of research include:
Studying genes and the progression of the disease helps us understand how it develops. 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.
Lifestyle and home remedies
Here are some steps you can take at home to help your child:
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.
Coping and support
Learning that your child has progeria can be emotionally devastating. Suddenly you know that your child is facing many difficult challenges and a shortened life span. For you and your family, coping with the disorder involves a major commitment of physical, emotional and financial resources.
Some helpful resources include:
Support network. Your health care team, family and friends can all be a valuable part of your support network. Also, ask your doctor about self-help groups or therapists in your community. Your local health department, public library and trustworthy sources on the internet may be helpful in finding resources.
Support groups. In a support group, you'll be with people who are facing challenges similar to yours. If you can't find a progeria support group, you may be able to find a group for parents of children with chronic illness.
Other families dealing with progeria. The Progeria Research Foundation may be able to help you connect with other families coping with progeria.
Therapists. If a group isn't for you, talking to a therapist or clergy member may be beneficial.
Helping your child cope
If your child has progeria, he or she is also likely to increasingly feel different from others as the condition progresses. Over time, fear and grief will likely increase as awareness grows that progeria shortens life span. Your child will need your help coping with physical changes, special accommodations, other people's reactions and eventually the concept of death.
Your child may have difficult but important questions about his or her condition, spirituality and religion.Your child may also ask about what will happen to your family after he or she dies. Siblings may have these same questions.
For such conversations with your child:
Ask your doctor, therapist or clergy member to help you prepare.
Consider input or guidance from friends you meet through support groups who've shared this experience.
Talk openly and honestly with your child and his or her siblings, and offer reassurance that's compatible with your belief system and appropriate to the child's age.
Recognize when your child or his or her siblings might benefit from talking to a therapist or clergy member.
Preparing for your appointment
It's likely that your family doctor or your child's pediatrician will notice signs and symptoms of progeria during regular checkups. After evaluation, your child may be referred to a medical genetics specialist.
Here are some things to help you prepare for your appointment.
What you can do
To get ready for your appointment, make a list of:
Any signs and symptoms your child has been experiencing, and for how long.
Your child's key medical information, including recent illnesses, any medical conditions, and the names and dosages of any medications, vitamins, herbs or other supplements.
Questions you want to ask the doctor.
Some basic questions to ask the doctor may include:
What is likely causing my child's signs and symptoms?
Are there any other possible causes?
What kinds of tests does my child need?
Are treatments available for this condition?
What are the complications of this condition?
Are my other children or family members at increased risk of this condition?
Are there clinical trials underway for which my child may be eligible?
Do you recommend that my child see a specialist?
How can I find other families who are coping with this condition?
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Be ready to answer them to reserve time to go over points you want to focus on.
When did you first notice that something may be wrong?
What signs and symptoms have you noticed?
Has your child been diagnosed with any notable diseases or conditions? If so, what was the treatment?
How is your family coping?
General summary
Progeria is a rare genetic condition that causes features of aging in children. It affects one in four million newborns. It is characterized by short stature, low muscle tone, decreased subcutaneous fat, and accelerated bone aging. As a result, progeria children look like They turn 70 at the age of eight and die at an average age of 13. There is no cure for progeria, but research suggests that giving growth hormone can reduce symptoms such as joint stiffness and increased height.
If you're a fan of the 2009 movie "The Curious Case of Benjamin Button," or the short story F Scott Fitzgerald was based on, you might remember that one character ages in the opposite direction and dies at the age of nine just a day later in her 80s called The condition, called progeria, that causes rapid aging There is no cure for progeria, but researchers continue to make discoveries about the disease that offer hope for those with this condition and help them lead more productive lives as they age. accelerated rate
Can you survive premature aging?
Progeria is a rare genetic condition that causes the body to age eight times faster than normal leading to premature death First described in 1886 by Jonathan Hutchinson progeria occurs when the gene responsible for producing an enzyme common in embryonic development stops working As a result of this deficiency victims of progeria develop symptoms at a very young age such as baldness and stunted body growth Children with progeria rarely live past 13 years old but there are some cases where patients live longer
How is progeria prevented?
Progeria can’t be cured but it can be treated to slow the aging process One treatment that helps also slows reactions in people with progeria is medication used for patients with overactive thyroid glands (hyperthyroidism) Other treatments are aimed at treating the symptoms of this disease They include heart surgery and physical therapy Some medicines for blood pressure problems help prevent strokes Treating infections such as pneumonia early can help limit their damage to organs in the body Knowing how to take care of yourself by eating well exercising and taking your medicine on time can also make you feel better Most important staying positive about
What disease did Benjamin Button have?
One of the most bizarre movie plots of all time is the story of Benjamin Button In it a little boy is born looking 70 years old gets younger throughout his life instead of older and dies at the age of one day His disease was diagnosed as progeria Like many fictional diseases real-life progeria doesn't make sense on paper because it has too many symptoms in common with other diseases Scientists have described more than 20 clinical features that can be found in sufferers with unique genetic defects on their genome that causes this rare disease It often strikes children under 6 years old and is characterized by rapid aging and
Can progeria be detected in the womb?
Progeria cannot be detected in the womb, but researchers have tried to develop a test for this syndrome by drawing amniotic fluid from women who are at risk of carrying an affected child. The cause of premature aging is still unknown and is actively researched
What causes premature aging in pregnancy?
Progeria is an inherited disorder that causes accelerated aging of children. Research suggests that premature aging is caused by mutations intended to repair DNA damage that may be passed on to the next generation if the affected parent has children with someone who does not suffer from premature aging. Doctors will develop an estimated one in four million