Progeria
By: Austin Himes
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.
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.