Progeria: Hutchinson-Gilford Progeria Syndrome (HGPS)


What is progeria?

Progeria, or Hutchinson-Gilford Progeria Syndrome (HGPS), is a genetic condition which dramatically speeds up the aging rate of a person beginning in childhood. Progeria often results in mortality. The lifespan of kids affected by this condition ranges from 8 to 21 years.

What causes progeria?

Progeria is caused by mutations in the gene LMNA. The LMNA gene is responsible for directing the production of a protein called lamin A. If the LMNA gene is mutated, the protein lamin A produced will be abnormal. Abnormal lamin A lead to the premature death of cells. This condition is not hereditary.

What are the symptoms of progeria?

Symptoms of progeria usually develop during the first year after birth. Besides abnormalities in developmental patterns, kids with progeria also have:

−Enlarge head and eyes
−Smaller lower jaw
−Thin and crooked nose
−Sticking-out ears
−Visible veins
−Delayed dental eruption
−High-pitched voice
−Fat and muscle loss
−Hair loss

Kids with progeria may suffer from age-related diseases such as bone degeneration, hardened arteries, and cardiovascular disease. Intelligence, brain development, and the immune system stay intact, though.

How to diagnose progeria?

Since progeria’s symptoms are often visible, your pediatrician will be able to diagnose it during a routine checkup. The doctor may require a physical exam with hearing and vision tests, and a comparison of the kid’s measurements with other kids in the same age group. You may need a medical genetics specialist to confirm your kid’s diagnosis.

What are the treatment options?

Until now, scientists have not been able to come up with a cure for progeria. However, farnesyltransferase inhibitors – a cancer drug might help fix the damaged cells. The goal of treatment is to slow down the progress of the disease and help manage the symptoms. You kid will probably be prescribed medication to prevent high cholesterol and blood clots. Heart attacks and stroke may be prevented with a daily low dose of aspirin. To build height and weight, your kid may take growth hormones. If your kid suffers from stiff joints, physical and occupational therapy may help. In some cases, coronary bypass surgery or angioplasty may be required to delay the progress of heart disease.

Also, it’s important to get your kid to drink plenty of water since dehydration is a common complication of progeria. Offer small meals frequently instead of three big ones. To encourage your kid to stay physically active, try buying them cushioned shoes which will help them feel more comfortable when moving around.

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Hello Health Group does not provide medical advice, diagnosis or treatment.

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