Progeria (patient information): Difference between revisions
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==Who is at risk for progeria?== | ==Who is at risk for progeria?== | ||
Progeria is a very rare disease in the world. The cause is not clear. Researchers found that [[mutation]]s 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. | Progeria is a very rare disease in the world. The cause is not clear. Researchers found that [[mutation]]s 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. | ||
==How to know your child have progeria?== | ==How to know your child have progeria?== | ||
Revision as of 15:41, 11 December 2009
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What is progeria?
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.
How to know your child have progeria?
In the past, doctors diagnosed progeria solely on physical symptoms, such as skin changes and a failure to gain weight. It was availble only when the child appear signs at their age of one or two years. Now, a genetic test makes it possible for doctors to diagnose a child at a younger age and try to treat them early in the disease process.
When to seek urgent medical care?
Treatment options
Diseases with similar symptoms
Where to find medical care for progeria?
Directions to Hospitals Treating progeria
Prevention of progeria
What to expect (Outook/Prognosis)?
Copyleft Sources
http://www.progeriaresearch.org/progeria_101.html
http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome