Progeria, a disease that advances gradually, is caused by a solitary genetic mutation. The occurrence of this condition is due to a genetic mutation in the LMNA gene, which results in the production of an unusual form of lamin A protein called progerin.

The LMNA gene is involved in this disorder, which maintains the cell nucleus’ structural stability. The protein becomes flawed due to the mutation, causing instability in the nucleus.

In other words, Progeria is caused by a single gene mutation that affects the LMNA gene, which is responsible for producing the protein that keeps the cell nucleus intact, known as lamin A. The LMNA gene mutation develops a defective form of lamin A protein called progerin that makes the cells unstable, leading to the ageing process associated with progeria.

The genetic mutation that causes progeria is not commonly inherited within families and usually occurs randomly.

Some of the limitations of progeria are:

• Cardiovascular problems: Children diagnosed with progeria commonly experience cardiovascular issues, including atherosclerosis, where the arteries become hardened and constricted. This can potentially result in heart attacks and strokes.
• Growth and development issues: Children diagnosed with progeria encounter challenges related to growth and development, including factors like impaired growth and delayed developmental milestones.
• Joint stiffness and pain: Children diagnosed with progeria commonly encounter joint stiffness and discomfort, which can impede their mobility and hinder their ability to engage in everyday tasks.
• Vision and hearing problems: Progeria can give rise to vision and hearing impairments, impacting a child’s learning and communication capabilities.
• Increased risk of cancer: Children with progeria are most prone to developing cancer.
• Shortened lifespan: The average lifespan of a child with progeria is around 14 years, although some children have lived into their 20s.
• Emotional and psychological impact: The typical life expectancy of a child with progeria is approximately 14 years, although there have been cases where some children have lived into their 20s.

Types Of Progeria

Progeria has two primary forms, one identified during infancy or early childhood, while the other identified during adolescence or early adulthood.

The two major types of Progeria disorder are:

1. Hutchinson-Gilford progeria syndrome (HGPS)
2. Werner Syndrome (Adult Progeria)

Progeria In Adults

Werner syndrome, which is also referred to as adult progeria, is a genetic condition that is rare and autosomal recessive. It is characterized by the early onset of ageing symptoms in the third decade of life.

These symptoms include thinning and greying scalp hair, bilateral cataracts, skin disorders, and early onset of age-related diseases. On the other hand, Gottron’s syndrome is a milder form of progeria inherited and characterized by small hands and feet with delicate skin. Those with Werner syndrome have a slower growth rate and stop growing after puberty.

Progeria is typically detected during routine checkups in infancy or early childhood when the distinctive signs of premature ageing become apparent.

Healthcare providers may suspect progeria based on symptoms and perform a thorough physical exam, which includes

• measuring height and weight,
• plotting growth on a curve chart,
• testing hearing and vision,
• taking vital signs like blood pressure 
• looking for visible symptoms of progeria.

Prenatal testing is also available to detect the LMNA gene mutation that causes progeria in the fetus.

Progeria cannot be cured, but some treatments may alleviate symptoms or slow down the progression of the disease. One such treatment is lonafarnib (Zokinvy), an oral medicine medication originally developed for cancer treatment. It can help prevent the buildup of faulty progerin and progerin-like proteins in cells, slowing down symptoms’ progression.

Lonafarnib has been shown to improve various aspects of progeria and has extended the average survival rate of children with the disease by 2.5 years.

Depending on the child’s condition and symptoms, various therapies can also help ease or delay some of the symptoms of progeria. Low-dose aspirin may be prescribed to prevent heart attacks and strokes.

Other medicines may be needed to treat complications, such as dietary therapy, blood thinners, and drugs to treat headaches and other symptoms. Physical and occupational therapy can help with joint stiffness and hip problems, while nutritional supplements provide extra calories.

Hearing aids, eye and vision care, and dental care may also be required to treat various symptoms.

Various ways of living and natural treatments can assist in aiding your child.

• It’s important to ensure that your child consumes adequate water, as dehydration can be more severe in children with progeria.

Dehydration occurs when the body lacks sufficient water and other fluids to perform regular functions. As such, ensuring your child drinks plenty of water and other liquids, particularly during illness, physical activity, or hot weather, is essential.

• To help with the nutrition and growth concerns children with progeria may face, offering them numerous small meals throughout the day is recommended.

This can help increase the calorie intake by adding healthy, high-calorie foods and snacks as required. You should consult your healthcare provider about nutritional supplements and consider scheduling appointments with a registered dietitian to enhance your child’s diet.

• Encourage your child to engage in physical activities regularly and seek advice from their healthcare provider to determine which activities are safe and beneficial.
• Consider purchasing shoes that have adequate padding or insoles for your child. The reduction of fatty tissue in their feet can result in discomfort, so it’s important to take precautions.
• It is recommended to apply sunscreen to your child’s skin. Choose a broad-spectrum sunscreen with a minimum SPF of 30 and apply it generously. Ensure to reapply the sunscreen every two hours. If your child is sweating or swimming, it is advisable to apply sunscreen more frequently.
• Ensure that your child has received all the recommended childhood vaccinations. Although a child with progeria is not more susceptible to infection, it is important to note that, like all children, your child is vulnerable to infectious diseases if they come into contact with them.
• Offer educational and social activities for your child. Progeria will not impact your child’s cognitive abilities. Your child can attend school based on their age level, although certain accommodations for physical size and ability might be necessary.

• Alter your home environment to promote self-sufficiency. It might be necessary to modify your household to enable your child to feel at ease and achieve independence. For instance, you can implement measures to help your child reach objects like light switches or faucets.

Additionally, you may need to purchase clothes with unique fastenings or sizes to accommodate their body shape. Adding extra padding to chairs and beds can enhance your child’s comfort.