Progeria

Overview

Progeria (or Hutchinson-Gilford progeria) is known as a condition that causes children to rapidly age beginning at the first two years of their lives. At birth, these children appear to be healthy however, after the first several (9-24) months of their lives they begin to show delayed growth, distinctive facial features and low body weight. Progeria is an extremely rare condition and is not passed down through generations as the prognosis is terminal at a very young age. The average life expectancy of a child with progeria is 13 years however they have been known to live into their early 20s. The cause of death for these children is usually attributed to heart failure or strokes.

A young girl with progeria, courtesy of abcnews.com

Causes

The gene mutation of
LMNA (which is responsible for creating the protein called lamin A) is the cause of this disease. Protein lamin A is needed to keep the nucleus (the control center of the cell and is where the DNA is located) together. A mutation in lamin A prevents the nucleus from holding its shape which progressively damages the nucleus. Researchers believe that the mutation occurs in an egg or sperm before conception since it cannot be inherited.

Symptoms

The symptoms of progeria include:

• Delay in growth and below average weight
• Small face compared to head
• Crowding teeth
• Underdeveloped jaw
• High pitched voice
• Small pinched nose
• Prominent eyes
• The graying or growth of blonde hair
• Loss of eyelashes and hair
• Thin lips
• Hip dislocations
• Visible veins
• Irregular heartbeat
• Stiff joints

Treatment

While there is no cure for progeria, monitoring a child's health for cardiovascular disease may help with managing this disease. A child may required to take low-dose aspirin to prevent heart attacks and strokes. Other medications may be prescribed to lower cholesterol to prevent blood clots and the use of growth hormones can be prescribed to help increase the child's height and weight. Also, the removal of the child's primary teeth may be required as their adult teeth could develop before their baby teeth are ready fall out.