Progeria Syndrome Diseases and Conditions

Progeria is the term for a group of disorders that cause rapid aging in children. Most common is the fatal Hutchinson-Gilford Progeria Syndrome (HGPS). This is a rare condition affecting a specific gene.

Progeria in Greek translates to “prematurely old.” Kids with progeria live to an average thirteen-years-old.

The adult version of progeria syndrome is Werner Syndrome. Symptoms normally occur in teenagers. Affected people may live into their 40s or 50s.

Wiedemann-Rautenstrauch syndrome is another progeroid syndrome. It is hereditary and appears in children while they are still in utero. Symptoms are clear at birth for these children.

Progeria is very rare and affects only one in four to eight million kids. The Progeria Research Foundation says there are 200-250 kids living with the syndrome at any given time. Progeria affects children regardless of gender or ethnicity.

What Causes Progeria?

Progeria is caused by a genetic mutation. The mutation occurs in the gene LMNA, which is responsible for producing a protein that helps maintain the structural integrity of the nucleus in cells.

Without strength in the nucleus, the cell structure is weak and leads to rapid aging, or progeria.

While the syndrome affects the genes, or is genetic, it is not thought to be hereditary. Parents who have one child affected with progeria do have a higher chance of having another.

This is because one parent could have the progeria mutation in some, but not all, of their cells. Other progeroid syndromes may be hereditary, but HGPS, specifically, is not.

How common is Hutchinson-Gilford progeria syndrome?

This condition is very rare; it is reported to occur in 1 in 4 million newborns worldwide. More than 130 cases have been reported in the scientific literature since the condition was first described in 1886.

Symptoms of Progeria

The symptoms of progeria normally begin to appear before or around the child’s first birthday. Children with progeria are born looking like healthy babies, but begin to age rapidly from there. Children with progeria fail to develop in height and weight and lose body fat.

They also typically lose hair, develop visible scalp veins, and have stiff joints. Their skin often looks aged or worn, with protruding eyes and thin lips.

They easily dislocate hips, and eventually suffer from heart disorders and stroke. It is very common for children with progeria to develop hardening in their arteries, or atherosclerosis. Children with progeria, although changing in appearance, have motor development typical of their age.

What are the characteristics, signs, and symptoms of Hutchinson-Gilford progeria syndrome?

They develop a characteristic facial appearance including:

  • prominent eyes,
  • a thin nose with a beaked tip,
  • thin lips, a small chin, and
  • protruding ears.

Hutchinson-Gilford progeria syndrome also causes:

  • hair loss (alopecia),
  • aged-looking skin,
  • joint abnormalities, and
  • a loss of fat under the skin (subcutaneous fat).

This condition does not disrupt intellectual development or the development of motor skills such as sitting, standing, and walking.

Diagnosing Progeria

To diagnose progeria, a child’s doctor will first do a physical examination. If progeria is suspected based on appearance, a blood test is administered to check for a mutation of the specific gene responsible for progeria.

If your child doesn’t appear to be growing or developing normally, see your doctor.

Treating Progeria

There is no known treatment for progeria at this time. Ongoing research has identified some promising drug options.

Some children with progeria receive treatment for complications from the disease, such as hardened arteries. These treatments include aspirin regime, medications (such as coagulants and statins) or physical therapy.

Progeria Prognosis

Progeria is a fatal syndrome. Most affected children eventually die from heart disease. Progeria sufferers have a genetic predisposition to heart disease. The average lifespan for progeria is thirteen, although some live into their 20s.

Source & More Info: Healthline and Medicine Net



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