Description

Progeria (pro-TEASES-e-uh), also known as Hutchinson-Gilford progeria syndrome, is an extremely rare, progressive genetic disorder. It causes children to age rapidly, beginning in their first two years of life.

Children with progeria generally appear healthy at birth. During the first year, the symptoms such as stunted growth, loss of fat tissue and hair loss, begin to appear.

Heart problems or strokes are the eventual cause of death in most children with progeria. The average life expectancy for a child with progeria is about 15 years. Some people with this condition may die young, and others can live longer, even nearly 20 years.

There is No cure for progeria, but new treatments and new research shows some promise for the management of symptoms and complications.

Symptoms

Usually in the first year of life, you will notice that your child is growing has slowed down. But the development of motor skills and intelligence are not affected.

The symptoms of this progressive disorder causing a distinctive appearance. They include:

  • The slow growth and poor weight gain, with below average height and weight.
  • The lack of fat that is stored under the skin.
  • The head is large in comparison with the face.
  • Small jaw, chin and mouth, and thin lips.
  • Thin, curved nose with a small hook on the end, which may look like a bird's beak.
  • Big eyes and the eyelids do not close completely.
  • The loss of hair, including eyelashes and eyebrows.
  • Fine, stains and wrinkles on the skin.
  • The veins are easily seen through the skin.
  • A high-pitched voice.
  • The premature aging.

The symptoms also include health issues:

  • Severe and progressive heart and blood vessel disease, also known as cardiovascular disease.
  • Setting and hardening of the skin.
  • Delayed formation of teeth and tooth shape that is not normal.
  • Some hearing loss.
  • The loss of fat beneath the skin and loss of muscle.
  • Problems with growth and development of bones.
  • Problems in the joints, including the stiffness of the joints.
  • A hip that forced him out of the correct position, it is referred to as a dislocation of the hip.
  • Dental problems.
  • No significant progression of puberty.
  • The resistance to insulin, which means that the body does not respond well to the insulin made by an organ called the pancreas.

When to see a doctor

Progeria is usually in infancy or early childhood. This often happens in regular check-ups, when the baby shows the first distinctive signs of premature aging.

If you notice any changes in your child, which could be symptoms of progeria, or you have any concerns about your child's growth or development, make an appointment with your pediatrician.

Causes

A change in a gene that causes progeria. This gene, known as lamin A (LMNA), makes a protein that is needed to hold the center of a cell, called the nucleus, together. When the LMNA gene has a change, to a poor lamin A protein called progerin is done. Progerin causes the cells unstable and seems to lead to the progeria of the aging process.

The mutated gene that causes progeria is rarely transmitted in families. In most cases, the rare change in the gene that causes progeria happens by chance.

Other similar syndromes

There are other syndromes that may include problems with the signal, such as proteins. These conditions are called progeroid syndromes. The change in the genes that cause these syndromes are transmitted in families. That causes rapid aging and a shortened life span:

  • Wiedemann-Rautenstrauch syndrome, also known as the progeroid syndrome, starts in the womb, with symptoms of aging apparent at birth.
  • The Werner syndrome, also known as adult progeria, begins in adolescence or early adulthood. This causes premature aging and the conditions that are more common in the age, including cataracts, and diabetes.

Risk factors

There are No known factors, such as lifestyle or environmental issues, which increases the risk of having the progeria, or giving birth to a child with progeria. But the age of the father has been described as a possible risk factor. Progeria is extremely rare. If you've had a child with progeria, the probability of having a second child with progeria are slightly higher than the general population, but are still low.

If you have a child with progeria, a genetic counselor can provide information about the risk of the presence of other children with progeria.

Complications

Severe hardening of the arteries, known as atherosclerosis, is common in the progeria. The arteries are blood vessels that carry nutrients and oxygen from the heart to the rest of the body. Atherosclerosis is a disease in which the walls of the arteries harden and thicken. Often, this limits the flow of blood. The condition particularly affects the arteries in the heart and the brain.

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

  • Problems with the blood vessels that supply blood to the heart, resulting in a heart attack and congestive heart failure.
  • Problems with the blood vessels that supply blood to the brain, resulting in stroke.

Other health problems often associated with aging, such as an increased risk of cancer — usually do not develop as part of progeria.

Diagnosis

Health care providers may be suspected of progeria, based on the symptoms. A genetic test for changes in the LMNA gene can confirm the diagnosis of progeria.

A complete physical examination of your child includes:

  • The measurement of the height and the weight.
  • Put measurements on a growth curve chart.
  • The hearing and vision tests.
  • The measurement of vital signs, including blood pressure.
  • Looking for visible symptoms of progeria.

Feel free to ask questions during the examination of your child. Progeria is a very rare disease. Your health care provider to gather more information before deciding on the next steps in the care of his son. Discussion of your questions and concerns will be useful.

Treatment

There is No cure for progeria. But the regular monitoring of the heart and the blood vessels of the disease may help with the management of your child's condition.

During medical visits, your child's weight and height were measured and put into a chart that shows the average of the measurements of children who are of the age of your child. The routine of the assessments often include electrocardiograms, and echocardiograms to check the heart, and imaging tests, such as X-rays and magnetic resonance imaging, and dental, vision and hearing exams.

Some therapies may facilitate or delay some of the symptoms of progeria. The treatments depend on your child's condition and the symptoms. These may include:

  • Lonafarnib (Zokinvy). This oral medication that helps prevent the build-up of the faulty signal and the signal-like proteins in the cells. Preventing this buildup in the cells and can slow the progression of the symptoms that occur in the progeria, which may help some children to live longer. The drug is approved by the Food and Drug Administration for children 1 year of age and older.
  • Low-dose aspirin. A daily dose can help prevent heart attacks and strokes.
  • Other medications. Depending on your child's condition, the doctor may prescribe other medications to treat the complications. These may include diet therapy, possibly with statins to help the blood vessels and heart function. Also, blood thinners to help prevent blood clots. Medications to treat headaches and other symptoms may be necessary.
  • Physical and occupational therapy. Physical therapy can help with the stiffness, joint and hip problems to help your child stay active. Occupational therapy can help your child to learn ways to cope with everyday activities, like getting dressed, brushing teeth, and eating.
  • Nutrition. A balanced diet that includes healthy, high-calorie foods can help to maintain adequate nutrition. Sometimes supplements are necessary to provide extra calories.
  • The hearing aids. Although low-frequency hearing loss does not usually affect the day to day activities, sometimes, listening devices or hearing aids are needed.
  • Eye and vision care. Not be able to close the eyelids completely can cause dryness in the eyes, and damage to the surface of the eye. Moisturizing products for eyes and regular vision care can help.
  • The Dental care. Dental problems are common in progeria. Regular visits with the pediatric dentist with experience in the progeria, you can treat problems early.

Treatment in the future

The current research seeks to understand the progeria, and to identify new treatment options. Some areas of research include:

  • The study of genes and the evolution of the disease in order to understand how it evolves. This can help identify new treatments.
  • The study of the ways of preventing diseases of the heart and vascular.
  • The test more drugs for the treatment of progeria.

Lifestyle and home remedies

Here are some steps you can take at home to help your child:

  • Make sure your child drinks plenty of water. The loss of water, called the dehydration, it can be more severe in children with progeria. Dehydration is when your body doesn't have enough water and other fluids to carry out its normal functions. Make sure that your child drinks enough water and other fluids, especially during a disease, with the activity or in hot weather.
  • Provide small frequent meals. Because the nutrition and growth can be a problem for children with progeria, giving your child smaller meals more often can help provide more calories. Add healthy, high-calorie foods and snacks as needed. Talk with your doctor about nutritional supplements. Visits with a registered dietitian can help you.
  • Provide opportunities for regular physical activity. Check with your doctor to find out what activities are safe and healthy for your child.
  • Get cushioned shoes or shoe inserts for your child. The loss of fat from the body in the feet can cause discomfort.
  • The use of sunscreen. The use of a broad-spectrum sunscreen with an SPF of at least 30. Apply sunscreen generously, and reapply every two hours. Apply sunscreen more often if your child is swimming or sweating.
  • Make sure your child is up to date with childhood vaccinations. A child with progeria is not at increased risk of infection. But like all children, your child is at risk if they are exposed to infectious diseases.
  • Provide learning and social opportunities. Progeria will not affect your child's intellect. Your child can attend the school at the appropriate age. Some adjustments to the size and the physical capacity may be required.
  • Make changes in the home to allow for independence. You may need to make some changes at home that will allow your child to have some independence and be comfortable. These may include ways to allow your child to reach the items, such as faucets or light switches. Your child may need clothing with special seals or in special sizes. Extra cushioning to the chairs and the beds can increase the comfort.

Coping and support

Learning that your child has progeria can be emotionally upsetting. Suddenly, you know that your child is facing many difficult challenges, and shortens the duration of the life. For you and your family, to cope with the condition may involve a significant commitment of health-physical, emotional, and financial resources.

Some helpful resources include:

  • Network of support. Your health care team, family and friends can be a valuable part of your support network. Also, ask your health care provider about the self-help groups or therapists in your community. Your local health department, and the public library of reliable sources on the internet can be useful in the search of resources.
  • The support groups. In a support group, you're going to be with the people that face challenges like yours. If you can not find a progeria support group, you may be able to find a group of parents of children with long term illnesses.
  • Other families dealing with progeria. The Progeria Research Foundation may be able to help connect you with other families who have a child with progeria.
  • Therapists. If a group is not for you, talk with a therapist or someone in your faith community can help.

Helping your child cope

With progeria, your child is likely to feel different from the others as the condition progresses. Over time, the emotions and the questions may change as your child realizes that the progeria shortens the useful life. Your child will need your help to deal with the physical changes, adaptations, other people's reactions and, finally, the concept of death.

Your child can be difficult, but important question about the progeria, spirituality and religion. Your child can also make questions about what is going to happen in his family, after the death. The brothers may have these same questions.

For this kind of conversations:

  • Ask your doctor, therapist or a leader in your faith to help you prepare.
  • Consider the input or guidance of friends who know each other through support groups with whom I have shared this experience.
  • Talk openly and honestly with your child and his brothers. We offer the peace of mind that fits in with their belief system and that is appropriate for the age of the child.
  • Recognize when your son or brothers could benefit from talking to a therapist or religious leader.

Preparing for your appointment

It is likely that your family doctor or pediatrician for your child to notice the symptoms of progeria, during regular check-ups. After the evaluation, your child may be referred to a medical genetics specialist.

Here's some information to help you prepare for your appointment.

What you can do

To prepare for your appointment, make a list of:

  • Possible signs and symptoms that your child has been experiencing, and for how long.
  • Your child's key medical information, including recent illnesses, medical conditions, and the names and doses of the drugs, vitamins, herbs and other supplements.
  • The questions you want to ask the health care provider.

Some questions may include:

  • What is likely causing my child's signs and symptoms?
  • There are other possible causes?
  • What kind of evidence does my child need?
  • Are the treatments available for this disease?
  • What are the complications of this condition?
  • Are my other children or family members at increased risk for this condition?
  • There are clinical trials that my child may be able to join?
  • Do you recommend that my child see a specialist?
  • How can I find other families who have a child with this condition?

What to expect from your doctor

Your health care provider is likely to ask several questions, such as:

  • When did you first notice that something may be wrong?
  • What are the signs and symptoms have you noticed?
  • Has your child been diagnosed with any illnesses or conditions? If so, what was the treatment?
  • How is your family coping?

Be prepared to answer questions, so that you'll have time to talk about what's most important to you.

Symptoms and treatment of Progeria