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Alpha 1-antitrypsin deficiency
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Nature of the Genetic Difficulty
Premature Senility disease, or Progeria is a genetic disease that affects children, allowing them only to live until around 13 years of age and causing rapid physical aging of the body. Progeria is caused by a mutation in the gene called LMNA (pronounced, lamin - a). The LMNA gene produces the Lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective Lamin A protein makes the nucleus unstable. That cellular instability appears to lead to the process of premature aging from Progeria.
Basis Facts of Disease
Most of the children who suffer from this disease, usually die because of a cardial infarction(heart attack) or complications thereof.
Children live to about the age of 13 before they die from complications though few have lived into their early 20's.
There are 89 known children living with progeria across 32 countries.
Despite rapid physical aging, the children's mental development are not affected
Growth failure during the first year of life
Narrow, shrunken or wrinkled face
Loss of eyebrows and eyelashes
Large head for size of face (
Open soft spot (fontanelle)
Small jaw (
Dry, scaly, thin skin
Limited range of motion
Teeth - delayed or absent formation
As there is no known cure for progeria, most children do not live past the age of 13. Most patients die from heart attack or stroke. While the body is rapidly aged, mental development is not adversely affected. On the contrary, intelligence seems to be above average. With respect to the features of aging brought on by the disease, the development of symptoms is comparable to eight to ten times faster than normal. Also, the patients do not have the genetic predisposition for cancer, neuro-degeneration, and do not experience “wear and tear” meaning such things as cataracts, or osteoarthritis. While there is no known cure, scientists now believe Farnesyltransferase inhibitors (FTIs), originally developed for cancer, are capable of reversing the dramatic nuclear structure abnormalities that are the hallmark of cells from children with Progeria.
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