Children who have progeria, an extremely rare genetic illness, age quickly. Children with progeria appear healthy at birth but typically begin to rapidly age within the first two years of life. There is discussion of symptoms, diagnosis, and treatment.
What is Progeria (Benjamin Button disease) & How Common is it?
Progeria is a hereditary condition that worsens over time and makes kids age quickly. It is also known as the Hutchinson-Gilford Progeria Syndrome (HGPS) or the Benjamin Button disease (named after the film ‘The Curious Case of Benjamin Button’.
Children with progeria may appear healthy at birth but typically begin to age rapidly within the first two years of life. Some live into their early 20s, but the majority pass away by the time they are 13 or 14. Heart disease or stroke are frequently the cause of mortality.
One in twenty million persons worldwide suffer from progeria. Around 350 to 400 children live with progeria at any given moment, according to the Progeria Research Foundation. Boys and girls appear to be affected by progeria equally, and no one race is affected more than others.
Types of Progeria (Benjamin Button disease)
There are three types of progeria syndrome –
- The most common type of progeria syndrome is Hutchinson-Gilford Syndrome. It is a very rare yet a fatal disorder.
- The second type of progeria syndromes is the Wiedemann-Rautenstrauch Syndrome and occurs in children while they are still in-utero.
- The third type of progeria syndrome is the adult version of the disease and is called Werner Syndrome. This type usually occurs in teenagers, and people with this condition can live up to 40-50yrs of age.
What Causes Progeria (Benjamin Button disease)?
Progeria causes involve a mutation in the lamin A (LMNA) gene. The gene produces a protein that keeps the cell’s nucleus together. In progeria, the body produces progerin, an aberrant type of lamin A that accelerates ageing.
The LMNA gene mutation is not inherited from parents to children. In reality, progeria seldom affects parents or siblings of progeria-affected children.
What Are the Symptoms of Progeria (Benjamin Button disease)?
The progeria symptoms usually appear in the child’s first two years after birth. One of the early signs of progeria is the slowing down of the child’s growth in the first year of life. However, motor abilities and intelligence remain unaffected. Progeria symptoms and signs are usually progressive in nature, the first changes being in the child’s physical appearance.
Signs and symptoms of progeria include:
- Retarded growth with a below-average height-weight ratio
- Small lower jaw, thin lips, narrow face
- Large eyes that cannot be closed all the way
- Big head that is disproportionate to the face
- Hair loss, including those on the eyelashes and eyebrows
- Thin, wrinkled skin
- Visible veins
- A high-pitched voice
- Skin shows spots
- Loss of fat in the body and muscles
While these are physical signs and symptoms, health issues that children with progeria tend to have include:
- Hearing loss
- Stiffness of joints
- Delayed and/or abnormal tooth formation and eruption
- Progressive and severe cardiovascular conditions
- Hardening of skin under the trunk and in the extremities that can appear and feel tight
- Hardening of arteries
- Loss and bone fragility
- Insulin resistance
- Skeletal abnormalities
- Hip dislocation tendencies
As the illness worsens, symptoms including hip dislocation, arthritis, cataracts, plaque buildup in the arteries, and heart disease start to appear. Strokes do occur in some progeria youngsters.
Children with progeria typically have intelligence levels on par with their peers despite these physical issues.
Genetic Mutation Behind Progeria (Benjamin Button disease)
A genetic mutation in the LMNA gene, which codes for the production of the protein lamin A, is one of the major progeria causes. The nuclear envelope, a membrane that envelops the cell nucleus, is supported by the essential structural protein named lamin A.
The Culprit: Abnormal Lamin A (Progerin)
A mutation in the LMNA gene causes progerin, an aberrant form of lamin A, to be produced in people with progeria. Progerin is faulty and builds up in cells, altering their function and structure in contrast to normal lamin A.
The nuclear envelope is weakened by this buildup, which damages cells and impairs their capacity to divide and rejuvenate. This eventually results in progeria, which is characterized by the physical signs of premature aging.
Is Progeria Inherited?
It is interesting to note that progeria is not usually hereditary. Rather, the mutation is present at conception because it develops spontaneously during the sperm or egg’s development. The illness is not handed down to families because those who are affected seldom live sufficiently long to bear children.
How is Progeria Diagnosed?
In 2003, the gene that causes progeria was discovered, and a genetic test was developed to determine whether progeria is the cause of a child’s symptoms. The child’s blood must be drawn for the test. (Prior to the development of this test, progeria could only be diagnosed by clinical examination and X-ray.)
Your doctor can get in touch with the Progeria Research Foundation if they have cause to think your kid might have progeria. The medical director of the foundation will examine the case and make arrangements for the test to be performed at no cost to the family. Results usually appear in two to four weeks.
How Can Progeria be Treated?
Progeria cannot be cured, however various medications are being researched as potential treatments.
These kids may benefit from physical therapy to improve their posture, balance, and range of motion as well as to ease hip and foot pain. They can improve in functional areas including eating, keeping up with personal cleanliness, and handwriting with the help of occupational therapy.
Progeria-affected children can considerably benefit from care that enables them to live as healthy and comfortable a life as possible. Typically, this comprises-
Heart disease monitoring– Monitoring for heart disease involves routine procedures like echocardiograms and blood pressure checks. Some heart disease risks can be decreased with the use of statin medications and low-dose aspirin therapy.
Imaging tests- Tests such as magnetic resonance imaging, or MRI can be used to check for headaches and seizures, both of which are common in these kids, as well as to screen for strokes.
Hearing assessments– Progeria in children can cause hearing loss that can be helped with hearing aids.
Regular eye exams– Some progeria children have vision issues, such as farsightedness or dry eyes. They could potentially get cataracts as the situation worsens. These kids may have shorter eyelashes and eyebrows, which increases the likelihood that foreign objects will irritate their eyes. In rare circumstances, it may be advisable for children who have a strong sensitivity to light to wear sunglasses.
Keeping a check for skin issues– The initial symptoms of progeria are frequently black spots or bulges on the skin, hair loss, itching, and skin stiffness that limits motion and can make breathing and digestion difficult.
Regular dental checkups– Dental checkups are important since progeria children are more prone to have dental issues such cavities, severe crowding, and receded gums.
Monitoring of bone health- Children with progeria may experience a range of concerns with joint health as well as bone growth and development.
Hutchinson-Gilford Progeria patients require a healthy diet to grow. Some children might require extra nutrition (including a feeding tube). Keeping the child hydrated can help lower the possibility of developing sudden neurological issues. Discuss with your child’s doctor healthy approaches to motivate your youngster to consume enough calories and fluids.
Breakthroughs in Research and Treatment
Progeria causes can be aided with potential treatments. These treatments have become possible since the involvement of progerin in progeria was discovered:
- Farnesyltransferase Inhibitors (FTIs):
- FTIs are medications that lessen the harmful effects of progerin by preventing the molecule farnesyl from attaching to it. Research has indicated that FTIs can help children with progeria live longer and have better cardiovascular health.
- Gene Editing:
- New technologies, such as CRISPR, are being investigated to directly fix the LMNA mutation, providing hope for longer-lasting fixes.
- NOTE: CRISPR is a new-age technology that scientists use to modify the DNA of living organisms, selectively.
- Progerin Inhibition:
- Scientists are looking at substances that may slow down the synthesis of progerin or hasten its degradation within cells.
BONUS: Lessons from Progeria for Healthy Aging
It’s interesting to note that research on progeria has shed light on the aging process. Researchers have found that, although at a far more gradual pace than in progeria sufferers, progerin builds up in the cells of all people as they age. The general public may profit from novel approaches to the fight against age-related illnesses as a result of a better understanding of how progerin impacts cellular health.
Conclusion: A Genetic Mystery with a Human Face
Progeria serves as a sobering reminder of the significant effects that a single genetic mutation can have. Despite being uncommon, the illness has spurred important advances in genetic research, providing valuable insights into cellular aging and opening the door to novel therapeutic approaches.
We have the opportunity to enhance the quality of life for people with progeria and open up new avenues for the fight against aging and associated illnesses by funding continued research and increasing public awareness thus helping with Progeria causes.
Agilus Diagnostics, a subsidiary of Fortis Healthcare Limited
