Progeria (patient information)

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How do I know if my child have progeria and what are the symptoms of progeria?

Children with progeria usually look normal at birth and in early infancy. However, within a year, affected children grow slowly and become much shorter and weigh much less than peers. They appear a characteristic facial appearance, including the following:

• Prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears.
• Baldness, aged-looking skin, a loss of fat under the skin
• Hair loss
• Joint abnormalities

Also, they suffer from symptoms typically seen in much older people, such as coronary artery disease, cataracts,osteoarthritis and stroke. Death occurs on average at age 13, usually from heart attack or stroke.

Who is at risk for progeria?

Progeria is a very rare disease in the world. The cause is not clear. Researchers found that mutations in the LMNA gene may be associated with progeria. The LMNA gene provides instructions for making lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researches demonstrate that the defective Lamin A protein makes the nucleus unstable.

Where to find medical care for progeria?

Directions to Hospitals Treating progeria

Copyleft Sources

http://www.progeriaresearch.org/progeria_101.html

http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome

http://www.genome.gov/11007255