What is Progeria?

About Progeria:

• Progeria, also known as Hutchinson-Gilford progeria syndrome, is an extremely rare, progressive genetic disorder. 
• It causes children to age rapidly.
• A tiny genetic mutation causes the disease.
• It is reported to occur in 1 in 4 million newborns worldwide. 
• Newborns with the disorder appear to be healthy at birth but usually start to show signs of premature aging during their first one to two years of life.
• Their growth rate slows, and they don’t gain weight as expected.
• Progeria doesn’t affect a child’s intelligence or brain development.
• However, their rapid aging causes distinct physical characteristics, including:
  • Hair loss (baldness).
  • Prominent eyes.
  • Aged, wrinkled skin.
  • A thin, beaked nose.
  • Disproportionately small face compared to head size.
  • Loss of fat under the skin.
• As children with progeria get older, they get diseases you’d expect to see in people age 50 and older, including bone loss, hardening of the arteries, and heart disease. 
• The condition is always fatal. Heart problems or strokes are the eventual cause of death in most children with progeria. 
• The average life expectancy for a child with progeria is about 15 years. Some with the condition may die younger, and others may live longer, even to about 20 years.
• There’s no cure for progeria. A drug called lonafarnib has been shown to slow down the progression of the disease.

Q1: What are genetic disorders?

Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material. Genes are made of DNA (deoxyribonucleic acid), which contain instructions for cell functioning and the characteristics that make you unique.

Source: Survivor of rare rapid-ageing disease progeria dies at 28

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