Diseases and Conditions > Cudurrada Caruurta

Progeria

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Yaxya:
Causes
In 2003, researchers announced the discovery of a single gene mutation responsible for Hutchison-Gilford progeria syndrome. The gene is known as lamin A (LMNA), which makes a protein necessary to holding the center (nucleus) of a cell together. Researchers believe the genetic mutation renders cells unstable, which appears to lead to progeria's characteristic aging process.
Unlike many genetic mutations, Hutchison-Gilford progeria isn't passed down in families. Rather, the gene change is a chance occurrence that researchers believe affects a single sperm or egg just before conception. Neither parent is a carrier, so the mutations in the children's genes are new (de novo).
There are, however, other progeroid syndromes that run in families. They include Wiedemann-Rautenstrauch syndrome and Werner's syndrome. In Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, onset of aging begins in the womb, and signs and symptoms are apparent at birth. Werner syndrome begins in adolescence or early adulthood. These inherited progeroid syndromes also cause rapid aging and shortened life span.

Tests and diagnosis
No diagnostic test confirms progeria. Doctors typically make a diagnosis based on signs and symptoms, such as failure to grow and hair loss, that typically aren't fully evident until your child is nearly 2. However, with the discovery of the genetic mutation that causes progeria, it's possible to use genetic testing for LMNA mutations at the first suspicion of progeria. The sooner you know your child has progeria, the sooner your doctor can recommend treatments that may help ease the signs and symptoms of the disorder.
A blood test may reveal that your child has a low level of high-density lipoprotein (HDL) cholesterol, the so-called good cholesterol that helps keep arteries open. This laboratory finding isn't diagnostic by itself, but may lend support to a diagnosis of progeria.

Dr.Farabadan:
 one professor told me that this disorder is caused by smoking and drinkin during pregnant.
do u think that this may cause it?

Yaxya:
it could be but the information that i have is due to genetic mutations thnx dr farabadan for ur sharing and if u have any other information let us share

Sherloklewis:
Progeria is a rare condition that is remarkable because its symptoms strongly resemble normal human aging, but occur in young children. Ninety percent of children with progeria have a mutation on the gene that encodes the protein lamin A. Progeria usually occurs without cause. It is only very rarely seen in more than one child in a family. Children with Progeria usually have a normal appearance in early infancy. At about 9-24 months of age, children with Progeria begin to experience profound growth delays, resulting in short stature and low weight. These children also develop a distinctive facial appearance characterized by a disproportionately small face in comparison to the head, an undeveloped jaw, and malformation and crowding of the teeth, abnormally prominent eyes, a small nose and a subtle blueness around the mouth. By the second year of life, children with Progeria lose their hair from the scalp, lose their eyebrows and eye lashes. Small, downy, white or blonde hairs may replace the scalp hair. Hutchinson Gilford Progeria is extremely difficult to diagnose in newborns, but certain suspicious findings may be present at birth, such as unusually taut, shiny, hardened skin over the buttocks, upper legs and lower abdomen, and bluish discolouration of the skin around the mouth. Profound, progressive growth retardation usually becomes evident by approximately 9-24 months of age. According to reports in the medical literature, affected children who are 10 years of age typically have a height of that of an average 3 year old.

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