Progeria

Progeria is a rare genetic condition that produces rapid aging in children.

Causes
Progeria is a rare condition that is remarkable because its symptoms strongly resemble normal human aging, but occur in young children.
Ninety percent of children with progeria have a mutation on the gene that encodes the protein lamin A. Progeria usually occurs without cause. It is only very rarely seen in more than one child in a family.

Symptoms
• Growth failure during the first year of life
• Narrow, shrunken or wrinkled face
• Baldness
• Loss of eyebrows and eyelashes
• Short stature
• Large head for size of face (macrocephaly)
• Open soft spot (fontanelle)
• Small jaw (micrognathia)
• Dry, scaly, thin skin
• Limited range of motion
• Teeth - delayed or absent formation
Exams and Tests
The signs include:

• Insulin-resistance
• Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened)
Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels.
Genetic testing can detect mutations in lamin A that cause progeria.

Treatment
There is presently no treatment for progeria.

Support Groups
Progeria Research Foundation, Inc. -- www.progeriaresearch.org

Outlook (Prognosis)
Progeria is associated with a short lifespan. The average patient survives to the early teens. However, some patients can live into their early 20s. The cause of death is usually related to the heart or a stroke as a result of the progressive atherosclerosis.

Possible Complications
• Heart attack (myocardial infarction)
• Stroke
When to Contact a Medical Professional
Call for an appointment with your health care provider if you child does not appear to be growing or developing normally.

Prevention
There is no known prevention.

Alternative Names
Hutchinson-Gilford progeria syndrome; HGPS

Source URL: https://metalandthephantom.blogspot.com/2011/07/progeria.html
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