PROGERIA: EXTREMELY RARE AUTOSOMAL DOMINANT GENETIC DISORDER

PROGERIA: EXTREMELY RARE AUTOSOMAL DOMINANT GENETIC DISORDER

Progeria is a rare genetic condition that causes a person to age prematurely.
Children with progeria appear healthy, but by the age of 2 years, they look as if
they have become old too fast. Most kids with progeria do not live past age 13. The
disease affects both sexes and all races equally. It affects about 1 in every 4 million
births worldwide.

A single mistake in a certain gene causes it to make an abnormal protein. When
cells use this protein, called progerin, they break down more easily. Progerin
builds up in many cells of kids with progeria, causing them to grow old quickly.

SYMPTOMS

Usually, within the first year of life, growth of a child with progeria slows
markedly, but motor development and intelligence remain normal.

Signs and symptoms of this progressive disorder include a distinctive appearance:

 Slowed growth, with below-average height and weight
 Narrowed face, small lower jaw, thin lips, and beaked nose
 Head disproportionately large for the face
 Prominent eyes and incomplete closure of the eyelids
 Hair loss, including eyelashes and eyebrows
 Thinning, spotty, wrinkled skin
 Visible veins
 High-pitched voice

TREATMENT

At this time, there’s no cure for progeria, but researchers are working on finding one.
A kind of cancer drug, FTIs (farnesyltransferase inhibitors), may fix the damaged cells.

Treatments usually help ease or delay some of the disease’s symptoms.

COMPLICATION

Children with progeria usually develop severe hardening of the arteries
(atherosclerosis). This is a condition in which the walls of the arteries — blood
vessels that carry nutrients and oxygen from the heart to the rest of the body —
stiffen and thicken, often restricting blood flow.

Most children with progeria die of complications related to atherosclerosis,
including:

 Problems with blood vessels that supply the heart (cardiovascular problems),
resulting in heart attack and congestive heart failure
 Problems with blood vessels that supply the brain (cerebrovascular
problems), resulting in a stroke