aka Hutchinson-Gilford progeria disorder
Dominiant or Recessive?
childhood growth being severely advanced at an alarming rate
children appear normal at birth, but then mature extremely slow compared to normal growth in infants, by not gaining weight and not growing
typical facial characteristic include prominent eyes, protruding ears, a thin nose with a beaked tip, thin lips and a small chin.
alopecia (hair loss), aging skin, and joint problems are common as well as loss of fat
symptoms DO NOT INCLUDE any intellectual problems or handicaps in sitting, standing, and walking.
patients experience severe hardening in the arteries (arteriosclerosis)
increased risk of strokes or heart attacks
The disorder is extremely rare, only occurring in 1 in 4 million babies worldwide, only 130 cases have been diagnosed since the disease was recognized in 1886
We look for a mutation in the LMNA gene
LMNA makes protein that is required to hold together the nuclear membrane
14 years old, no longer living. There is a video on her story below.
17 years old, passed before graduation.
8 years old, and still a fun a sassy girl!
* The youngest person to die from Progeria was 3 1/2 years of age.
* Nothing was known about Progeria until about 30 years ago.
*The oldest surviving patient of Progeria
*One indian family had 5 childrent that were diagnosed with Progeria