Progeria, also known as Hutchinson-Gilford syndrome, is a rare, progressive genetic condition that causes children to age rapidly in their first two years of life.
At birth, children with progeria seem normal. Signs and symptoms such as sluggish development and hair loss begin to show within the first year.
Most children with progeria die as a result of heart issues or strokes. A kid with progeria has a life expectancy of roughly 13 years. Some people with the condition die early, while others live for a long time, sometimes up to 20 years.
Although there is no cure for progeria, continuing research indicates some hope for therapy.
WHAT ARE THE SYMPTOMS OF PROGERIA?
A kid with progeria's growth usually slows significantly within the first year of life, while motor development and IQ remain normal.
The following are signs and symptoms of this progressive disorder:
- Slow development, with height and weight below average
- A narrow face, a short lower jaw, thin lips, and a beaked nose
- Skin thinning, splotchy, and wrinkled
- Veins that are visible
- High-pitched tone of voice
- Abnormally huge head for the face
- Prominent eyes and partial eyelid closure
- Hair loss, including lash and brow loss
Signs and symptoms include health issues:
- Heart and blood vessel (cardiovascular) illness that is very severe and progresses
- Skin hardening and tightness on the trunk and extremities (similar to scleroderma)
- Joint stiffness
- Dislocation of the hip
- Insulin resistance
- Tooth development is delayed and irregular.
- Some degree of hearing loss
- Fat loss beneath the epidermis and muscle mass loss
- Bone fragility and skeletal anomalies
WHAT ARE THE CAUSES OF PROGERIA?
Progeria is caused by a single gene mutation. The lamin A (LMNA) gene produces a protein that is required to maintain the center (nucleus) of a cell together. When this gene is faulty (has a mutation), an aberrant version of the lamin A protein termed progerin is generated, causing cells to become unstable. This appears to contribute to the aging process of progeria.
Progeria, unlike many genetic mutations, is seldom handed down through families. In the majority of cases, the gene mutation is a rare, random event.
Similar syndromes
Other progeroid disorders run in families as well. These hereditary disorders result in premature aging and a shorter life span:
- Wiedemann-Rautenstrauch syndrome, also known as newborn progeroid syndrome, begins in the womb and manifests as aging signs and symptoms at birth.
- Werner syndrome, also known as adult progeria, develops in adolescence or early adulthood and causes accelerated aging and old-age illnesses such as cataracts and diabetes.
WHAT ARE THE RISK FACTORS FOR PROGERIA?
There are no recognized risk factors, such as lifestyle or environmental concerns, that increase the likelihood of having progeria or having a child with progeria. Progeria is exceedingly uncommon. Parents who have had one kid with progeria have a 2 to 3 percent probability of having another child with progeria.
WHAT ARE THE COMPLICATIONS OF PROGERIA?
Children with progeria typically acquire substantial artery hardening (atherosclerosis). This is a disorder in which the arteries' walls harden and thicken, causing blood flow to be restricted.
The majority of children with progeria die from atherosclerosis-related problems, such as:
- Cardiovascular issues cause a heart attack and congestive heart failure by affecting the blood arteries that supply the heart.
- Stroke is caused by abnormalities with the blood arteries that supply the brain (cerebrovascular disorders).
Other common aging-related health issues, such as arthritis, cataracts, and increased cancer risk, do not normally arise as part of the progeria course.
HOW IS PROGERIA DIAGNOSED?
Doctors may suspect progeria based on the syndrome's indications and symptoms. A genetic test for LMNA mutations can confirm a progeria diagnosis.
A complete physical examination of your child should include the following:
- Height and weight measurements
- Using a normal growth curve chart to plot measurements
- Hearing and vision tests
- Vital indicators, such as blood pressure, are measured.
- Searching for progeria-related observable signs and symptoms
Don't be afraid to ask questions. Because progeria is a relatively rare condition, your doctor will most likely need to gather additional information before selecting the next steps in your child's care. Your worries and questions might assist your doctor in developing a list of subjects to research.
WHAT ARE THE TREATMENTS FOR PROGERIA?
Although there is no treatment for progeria, frequent monitoring for heart and blood vessel problems (cardiovascular disease) may aid in the management of your child's condition.
Your child's weight and height are measured at doctor appointments and plotted on a chart showing normal growth values. Your doctor may prescribe additional regular assessments, including as electrocardiograms and dental, vision, and hearing checks, to monitor for changes.
Certain treatments may alleviate or postpone some of the signs and symptoms. Treatment options are determined on your child's health and symptoms. These might include:
- Low-dose aspirin: A daily dosage may aid in the prevention of heart attacks and strokes.
- Other drugs: Depending on your child's health, the doctor may prescribe additional medications such as statins to decrease cholesterol, blood pressure meds, anticoagulants to help prevent blood clots, and headache and seizure medications.
- Dental care: Dental disorders are typical among the elderly. A consultation with a pediatric dentist who is familiar with progeria is advised.
- Occupational and physical therapy: These therapies may aid in the treatment of joint stiffness and hip issues, allowing your kid to remain active.
- Nutrition: Nutritious, high-calorie meals and supplements can help you stay nourished.
Future treatment options
Current research is attempting to comprehend progeria and discover novel therapeutic alternatives. Some research areas include:
- Understanding how the disease advances through studying genes and the course of the disease. This might aid in the discovery of novel medications.
- Investigating methods to avoid heart and blood vessel disease.
- Human clinical studies are being conducted utilizing medications known as farnesyltransferase inhibitors (FTIs), such as lonafarnib, which were intended to treat cancer but may be useful in the treatment of progeria by assisting with weight growth and enhanced blood vessel flexibility.
- Testing different medications to treat progeria.
HOME REMEDIES FOR PROGERIA?
Here are some home remedies you might try to treat your child:
- Make certain that your child stays hydrated: Dehydration can be more severe in progeria youngsters. Make sure your child drinks lots of water, especially if they are sick, active, or in hot weather.
- Provide chances for frequent physical activity: Consult your child's doctor to determine which activities are appropriate for him or her.
- Purchase cushioned shoes or shoe inserts for your child: The reduction of body fat in the foot can be painful.
- Apply sunscreen: Use a broad-spectrum sunscreen with a minimum SPF of 15. Apply sunscreen liberally and reapply every two hours, or more frequently if your kid is swimming or sweating.
- Check that your child's vaccines are up to date: A kid with progeria is not at an elevated risk of infection, but if exposed to infectious illnesses, he or she is at risk.
- Make study and social opportunities available: Because progeria has no effect on your child's intelligence, he or she can attend school at an age-appropriate level. Some size and ability adjustments may be required.
- Make adjustments: You may need to make some modifications at home to give your child some freedom and comfort. These can include modifications to your home so that your kid can reach objects like faucets or light switches, clothing with unique closures or sizes, and extra cushioning for chairs and beds.
- Provide small, frequent meals: Because nutrition and growth can be a problem for children with progeria, providing smaller meals more frequently may assist boost calorie intake. As required, include nutritious, high-calorie foods, snacks, and supplements.