Progeria
Progeria, also known as Hutchinson-Gilford syndrome, is a very rare, progressive genetic disease that causes premature aging in children that begins in the first two years of life.
Children with progeria look normal at birth During the first year after birth, symptoms such as slow growth and hair loss appear
Heart problems and stroke are the most common causes of death in children with Progeria The average life expectancy for sufferers is about 13 years, although some patients die sooner and others live longer than 20 years.
Progeria cannot be treated yet, although current research is trying to establish an effective method of treatment
Researchers have discovered a mutation in the gene that causes progeria A gene called lamin A makes a protein that holds the center (nucleus) of the cell together Scientists believe that when this gene is defective, the genetic mutation causes the cells to become unstable, leading to the aging process.
Unlike other genetic mutations, progeria is not passed from parent to child Gene mutation occurs randomly in sperm and egg before conception Neither parent is a carrier of the disease, so the mutations arise de novo in the child.
Other Similar Syndromes There are other progeria-like syndromes that are passed from parent to child. Such syndromes cause rapid aging and shortening of life expectancy:
- Wiedmann-Rautenstrauch syndrome, which develops during pregnancy Symptoms of aging are evident from birth
- Werner's syndrome begins in adolescence or young adulthood and causes premature aging and age-related diseases such as diabetes and cataracts
In the first year of life, the growth of a child with progeria is noticeably slowed, although the development of motor functions and intelligence remain normal.
Symptoms:
- Slowed growth, below average height and weight
- Narrow face, small lower jaw, thin lips and beak nose
- Head disproportionately large for the face
- Protruding eyes and full eyelid closure
