What causes progeria in pregnancy

 PROGERIA DISEASE

What Is Progeria?

As a result of the short story and movie "The Curious Case of Benjamin Button," progeria is also referred to as Hutchinson-Gilford progeria syndrome (HGPS) or the "Benjamin Button" sickness. The child's body ages quickly due to an uncommon genetic abnormality. Progeria is caused by a mutation in the LMNA gene. Progeria children typically die before they turn 13 years old. All sexes and races are equally impacted by the illness. In the world, it affects about 1 in every 4 million newborns.

There are some genes that produce aberrant proteins because of just a single error. Progerin is a protein that is used by cells to facilitate their easier breakdown. Progeroid children age rapidly as a result of this.

Symptoms of progeria

The condition normally has no symptoms at birth, but throughout the first year of life, a newborn begins to exhibit symptoms. Physical characteristics they acquire include:

• slowly increasing weight and height
• an enlarged head
• They struggle to fully close their large eyes.
• small lower jaw
• a short nose that ends in a "beaked" tip
• a protruding ear
• Observable veins
• tooth growth that is erratic and slow
• voice with a high pitch
• muscle and body fat loss
• loss of hair, including on the lashes and brows
• skin that is spotty and wrinkled

PROGERIA DISEASE CAUSES

As progeria children age, they get illnesses like bone loss, artery hardening, and heart disease that are often seen in persons 50 and older. Typically, heart attacks or strokes claim the lives of progeria children.

The development of a child's brain or intelligence is unaffected by progeria. A child with the disease has the same risk of contracting illnesses as other children.

Causes of Progeria and Risk Factors

Progeria is brought on by a lamin A (LMNA) gene mutation. The gene produces a protein that maintains the integrity of the cell's nucleus. Progerin, an aberrant form of lamin A produced by the body in progeria, has a fast-aging effect.

No risk factors for progeria have been identified by researchers. It is not handed on or inherited within families.

There is evidence of the symptoms. During a normal examination, a pediatrician is likely to notice them.

Schedule a visit with your pediatrician or family physician if you see any changes in your child that could be progeria symptoms. Your doctor will conduct a physical examination, check your child's blood pressure and pulse, test their hearing and eyesight, and compare their height and weight to children their child's age.

You might need to contact a medical genetics expert who can do a blood test to confirm the diagnosis if your child's pediatrician is worried. Progeria could only be identified by X-rays and observation prior to the development of genetic blood tests.

progeria treatments life expectancy

There is currently no treatment for progeria, but scientists are working to find one. In one clinical research, a class of cancer medication called FTIs (farnesyltransferase inhibitors) is being examined to determine if it can help halt the disease.

Some of the disease's symptoms can be mitigated or delayed with the use of treatments.

Medicine and dietary modifications

To decrease cholesterol or avoid blood clots, your child's doctor can recommend medications and dietary modifications. Aspirin taken daily at a low dose can help fend off heart attacks and strokes. Gaining weight and height is aided by growth hormones. Lonafarnib (Zokinvy) has been given FDA approval to treat the heart-harming accumulation of faulty progerin.

If your child has tight joints or hip issues, physical and occupational therapy can assist them in maintaining their mobility.

Surgery. To stop the progression of heart disease, certain kids may undergo coronary bypass surgery or angioplasty.

the home. Children with progeria are more likely to become dehydrated, so they should drink a lot of water, especially when they're feeling under the weather or contagious. Smaller meals more frequently can also help them eat enough. Your youngster may feel less discomfort and be inspired to play and stay active by wearing cushioned shoes or inserts.

Sunscreen. Use an SPF of at least 15 on broad-spectrum sunscreen. Apply it again after every two hours, or sooner if your youngster is swimming or perspiring.

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The Progeria Complications

A condition known as atherosclerosis, which hardens and decreases blood flow from blood vessels that deliver nutrients and oxygen to your body, is typically developed in children with progeria. Most progeria children pass away from heart attacks and strokes brought on by atherosclerosis.

Unfortunate Circumstances

Progeria-like conditions like Wiedemann-Rautenstrauch syndrome and Werner syndrome are frequently inherited. Both of these uncommon illnesses contribute to accelerated aging and a shorter life span.