Imagine giving birth and your newborn is perfect in every, only to find out in three months or so there is something severely wrong. That is how it starts with Progeria also known as Hutchinson-Gilford Progeria Syndrome. HGPS is a extremely rare genetic disorder that causes a child to prematurely age shortly after birth. It not only affects the appearance of the child but also the overall health. Progeria is a very terrible and deadly disease that hopefully we find a cure for soon.
What is it, is it hereditary. Dr. Jonathan Hutchinson first described Hutchinson-Gilford Progeria Syndrome in England in the year 1886. Later in 1897 Dr. Hastings Gilford described the disease in greater detail. The name Progeria is derived from the Greek word Geras, which means old age. HGPS is a genetic mutation that is passed down to the child when both parents carry the mutated gene called LMNA. The LMNA gene holds the nucleus of a cell together. An abnormal LMNA gene is called Progerin and that is what causes the child to prematurely age. HGPS is considered a “sporadic autosomal dominate” mutation, which means sporadic because it could be new in that family and dominant because only one copy of the gene is needed to have the syndrome. If the parents never had a child with Progeria their chances are one in four to eight million. But if the family already has a child with Progeria their chances are raised to about two to three percent. The increase in the chances is due to a condition called “mosaicism” that means that a small portion of the parents cells have the genetic mutation for Progeria.
Symptoms. Within the first year of life a child with Progeria will start to display symptoms. Signs and symptoms of HGPS include slowed growth, narrowed face and beaked nose, whole body hair loss, scleroderma the hardening and tightening of skin, the head is disproportionately large for the face, thin lips, visible veins, large eyes, small lower jaw, high pitched voice, abnormal tooth formation, diminished body fat and muscle, stiff joints, hip dislocation, insulin resistance, and a irregular heartbeat. The children with Progeria all look very similar no matter the race, ethnic back round, or sex.
Tests and Diagnosis. To test for...