Progeria

By: Austin Himes

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What is it?

Progeria is an extremely rare genetic disease of childhood. It is estimated to affect one in 4 million newborns worldwide. As Babies, children with progeria usually appear normal. However, within a year, their growth slows and soon are much shorter and weigh much less than others their age. Affected children develop baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. They also suffer from symptoms seen in much older people: stiffness of joints, hip dislocations and severe, progressive cardiovascular disease. Death occurs on average at age 13, usually from heart attack or stroke.
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Signs and Symptoms

Signs and symptoms include:



  • prominent eyes
  • a thin nose with a beaked tip
  • thin lips, a small chin
  • protruding ears
  • hair loss (alopecia)
  • aged-looking skin
  • joint abnormalities
  • a loss of fat under the skin (subcutaneous fat)

Causes


Unlike many genetic mutations, 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 child's genes are new.

Long and short term effects

Short term effects: Progeria signs include growth failure, loss of body fat and hair, aged-looking skin and stiffness of joints.

Long term effects: The children suffer from osteoporosis and cardiovascular disease and stroke.

Treatment

Treatment includes:

Occupational therapy

Improves daily living and work skills of patients.

Physical therapy

Restores muscle strength and function through exercise.