We all know the famous American social media star, Adalia Rose who rose to fame after her mother published a Facebook page on her name, to keep track of her progress. She hit the headlines after her serious disease came to attention, where she was diagnosed with Progeria, a rare condition most children suffer from.
In this article, I am going to explain everything you need to know about this birth defect and why it occurs?
What is Progeria?
Progeria, which is also known as Hutchinson-Gilford Syndrome is a rare, progressive premature aging disorder with a prevalence rate of one in eighteen million. The word progeria comes from the Greek word “pro” which means “premature” and “geras” that means “old age.” The disease was first discovered by Jonathan Hutchinson and later further research was carried out by Hastings Gilford, hence it’s also known as Hutchinson-Gilford Syndrome. The estimated birth incidence for Progeria is one in four million births hence it’s a pretty rare disease that is life-threatening. The prominent characteristic of this disease is that the child resembles an old person at a very early age. The lifespan of such children is only up to 13 to 20 years.
Signs And Symptoms
The signs and symptoms of Progeria are visible within the first few months of birth with marked slow physical growth. The cognitive growth, intelligence, and the motor development, on the other hand, remains normal. Some of the peculiar signs and symptoms of progeria include:
- Wrinkled skin, small lower jaw, thin lips
- Disproportionately large head
- Hair loss with no eyelashes and eyebrows
- High-pitched voice
- Hear loss
- Stiff joints
- Delayed or abnormal tooth formation
- Heart and blood vessel disorders
- Delayed growth of weight and height
- Renal failure, loss of eyesight
- Loss of body fat and muscle
Once the child ages past the infancy, several disorders, and other health problem might start to occur such as musculoskeletal degeneration, stiff joints, dislocated hips, hardening of arteries and so on.
Cause of Progeria
Progeria is a genetic disorder caused as a result of the point mutation. The mutation occurs in the 1824 position of the LMNA gene (the gene that codes for the structural protein, prelamin A that is associated with the structural support of the nucleus) where cytosine replaces the thymine resulting in the formation of abnormally short mature mRNA transcript. The mRNA after translation form abnormal variant of prelamin A protein whose farnesyl functional group cannot be removed resulting in the formation of abnormal protein ‘progerin’. The progerin protein gets permanently affixed to the nuclear rim and hence it is unable to become the part of the nuclear lamina. The nuclear lamina, as a result, cannot provide a nuclear envelope with appropriate structural support. The support that the nuclear lamina provides is important to organize the chromatin during mitosis. Hence, due to this defect, a child suffers from progeria. The protein progerin might also play a crucial role in human aging.
Treatment of Progeria
Until now, there has not been any proven and effective cure for progeria and researches have still been carried out to find the ultimate treatment. However, there are treatment options to manage the complications through surgery such as coronary artery bypass surgery to restore the normal blood flow of the obstructed artery or growth hormone treatment. Some anticancer drugs like farnesyltransferase inhibitors (FTIs) have also been discovered but the treatment has been limited to the animal models only.
Your doctor might prescribe your child to take in drugs to lower cholesterol and also prescribe low dose of aspirin every day to prevent the risk of heart attacks and stroke. In case of stiff joints and muscular pain, physiotherapy and occupational therapy is advised. Children with progeria are pretty vulnerable to other infections and disease, hence it’s very important to keep them safe from any exposure. Also, they are more likely to get dehydrated, hence ample intake of water is essential as well.
Some Facts About Progeria
- Progeria is not a hereditary condition; it’s a sporadic autosomal dominant mutation.
- The life expectancy of progeria patients is pretty low with the average age of death being 13-15 years.
- Progeria doesn’t hamper the intellectual capability of the child. Progeria child is equally intelligent as average kids.
- Progeria is prevalent in all demographics. It has affected children of all ethnicity, gender, and backgrounds.
- Progeria is not a communicable disease, meaning you won’t get affected by the disease if you touch or do any contact with the patient.
- Progeria patients have been known to suffer social stigma for a long time.
- The disease wasn’t researched until the 90’s.
- In the past, the diagnosis of progeria could only be done by the presence of physical symptoms. Today it is possible to perform a genetic test if it is suspected, which allows for earlier treatment to help slow the aging process.
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