Progeria Disease, Rare Diseases in the World
The disease is Progeria is a disease that mencegangkan strange world, according to research disease Progeria is caused by a small error in the genetic code of the child, but it has devastating and life-changing consequences. average number of children born with this disease will die at the age of 13, because their bodies are aging faster as baldness, heart disease, weakened bones and arthritis.
Fortunately, this disease is very rare, only about 48 people were stricken with the disease around the world, but there is a family that has five children who are all affected. Progeria is a disease of genetic code error (mutation), precisely disorder protein (Lamin A) around the nucleus of a cell or other experts say there are errors in chromosome number 1, the one that resulted in premature aging prematurely.
Progeria is composed of two types of Hutchinson-Gliford syndrome (progeria of childhood) and Werner syndrome (progeria of adulthood). Progeria childhood or known as Hutchinson-Gliford syndrome is characterized by growth failure in the first year of life. Looks clearly an imbalance in body size (small or tend to be thin), the skin looks wrinkled, late teething or even none at all, very limited ability to move, and some other characteristics. As commonly seen in elderly individuals. This can lead to a stroke or heart attack that led to the death.
Until now has not found the right treatment and prevention for the handling of this case progeria. In Indonesia too, is a rare disease progeria. Indonesia recently discovered a child who suffered the fate of those less fortunate. The child was named Wiradianty is fondly called Ranti, who is now resting in peace in the bosom of God Almighty.
Progeria is a progressive genetic disorder that causes children old before their time. Rare condition; since 1886, only about 130 cases of progeria have been documented in the scientific literature. Children with progeria, also known as Hutchinson-Gilford progeria syndrome (HGPS), generally appear normal at birth. At 12 months after birth, signs and symptoms, such as skin changes and hair loss, begin to appear. The average life expectancy for a child with progeria is 13 years old, but some with the disease die younger and some live 20 years or more. Heart problems or stroke is greatest penyebabkematian children with progeria.
Usually within the first year of life, children with progeria abnormal growth so that the height and weight fall below average for his age and low weight. However, motor development and mental development remain normal. Signs and symptoms of this progressive disorder include:
-Growth is slow, below average height and normal weight.
-Beaked nose and narrow face that makes the child look old.
-Hair loss (alopecia), including eyelashes and eyebrows.
-Hardening and tightening of the skin on the trunk and extremities (scleroderma).
-Skin looks old.
-Head is too big for the face.
-Small lower jaw (micrognathia).
-Abnormal tooth formation.
-The loss of body fat and muscle.
There is no cure for progeria. Regular monitoring of cardiovascular disease can help to manage the child’s condition. Some children undergoing coronary artery bypass surgery or dilation of coronary arteries (angioplasty) to slow the progression of cardiovascular disease.