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Schmidt's Gay BeerOverview of PROGERIA: a rare disease CHILD

Overview of PROGERIA: a rare disease CHILD

Kamal Singh Rathore, Sunita P., Khushboo Sharma RKNema

Progeria is a rare, fatal genetic disease that produces rapid aging, beginning in childhood also called "syndrome Hutchinson-Gilford progeria" or "growth hormone" and "Hutchinson-Gilford progeria syndrome," where symptoms resembling aspects of aging are manifested at an early age. Progeria was first described in a scientific journal by Dr. Jonathan Hutchinson in 1886 and Dr. Hastings Gilford in 1897 - both in England.

Its name is derived from Greek and means "prematurely old." Approximately 1 4000000 people are diagnosed with this condition. Those who are born with progeria typically live about 13-20 years, is a genetic disorder that occurs as a new mutation and is usually not hereditary, although there is a unique form that can be inherited. This is in contrast to another rare syndrome, but similar premature aging, dyskeratosis congenita (DKC), which is hereditary and is often expressed several times in a family line.

Although they are born looking healthy, children with Progeria begin to display many characteristics of accelerated aging at around 18-24 months. Progeria signs include growth failure, loss of body fat and hair, skin aging, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. Children have a remarkably similar, despite differences in ethnicity. Children Progeria die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8-21 years). According to Page Hayley "At present there are 53 known cases of Progeria around the world and only 2 in the United Kingdom. There is a reported incidence of approximately 1 Progeria 4-8000000 again. Boys and girls are at equal risk of having Progeria.

Symptoms

Progeria is a progressive genetic disorder that causes children to age rapidly, from their first two years of life. The condition is rare, since 1886, only 130 cases of progeria have been documented in scientific literature. Usually in the first year of life, the growth of a child with progeria slows sharply while the height and weight fall below the average for his age and weight for height is low. motor and mental development are normal.

Signs and symptoms of this progressive disease include:

  • Limited growth or stunting during the first year of life
  • Narrow, shrunken or wrinkled
  • Failure to Thrive
  • Baldness (Alopecia)
  • insulin-resistant diabetes (diabetes that does not respond readily to insulin injections)
  • Abnormalities of the skin similar to that seen in scleroderma (the connective tissue becomes hard and hardened)
  • Loss of eyebrows and eyelashes
  • a distinctive appearance (small face and jaw, nose)
  • Small size and small fragile bodies like those of elderly
  • Large head size of face (macrocephaly)
  • Open fontanelle (fontanel)
  • small jaw (micrognathia)
  • Dry and scaly, thin skin
  • limited movement
  • tooth formation - delayed or absent
  • Later the condition causes wrinkled skin, atherosclerosis, and cardiovascular problems.
  • Growth has slowed, with a height below the average and the weight
  • A face and a hooked nose narrowed, which makes the child look old
  • Head too big for the face
  • prominent scalp veins
  • prominent eyes
  • Small lower jaw (micrognathia)
  • High pitched voice
  • Delayed formation of teeth and abnormal
  • Loss of body fat and muscle
  • joint stiffness
  • Dislocation

Causes

Posted on March 23, 2010.
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