Progeria is a rare genetic condition that produces rapid aging in 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.
Genetic testing can detect mutations in lamin A that cause progeria.
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)
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.orgOutlook (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
