Progeria: Symptoms, Causes, Risks and Treatment
Hutchinson-Gilford Progeria Syndrome is commonly referred to as Progeria or HGPS. Progeria is a genetic condition that occurs in 1 of every 4 to 8 million newborns, and manifests itself physically in children as rapid aging. The most common type of progeria is known as Hutchinson-Gilford Progeria Syndrome.
What are the symptoms of Progeria?
Children with progeria do not begin showing symptoms until around 18-24 months; typically they are born looking healthy.
Progeria signs include:
- Stiffness of joints
- Growth failure
- Aged-looking skin
- Loss of body fat and hair
- Hip dislocation
- Cardiovascular (heart) disease and stroke
- Generalized atherosclerosis
Progeria is fatal, and typically causes death by heart disease around the age of fourteen. However, lifespan can range widely, from 8-21 years.
Who is at risk for progeria?
Progeria does not occur because the mother or father has a genetic predispostion for the disorder. Instead, it is caused by a new mutation at the time of conception. This is the reason the rate of progeria is spread fairly equally between all genders and ethnicities. The odds of your child being born with progeria are approximately 1 in 4-8 million.
Generally speaking, there is no way to pass this disorder along, since the mutation is spontaneous. However, having one child with progeria increases the risk of having another with the disorder by 2-3%.
Progeria is tested for through amniocentesis. Typically, however, the disorder is not tested for, as it is extremely rare, and there is no genetic link. Other progeroid syndromes include Werner’s syndrome, also known as “adult Progeria” which does not have an onset until the late teen years, with a life span into the 40’s and 50’s, and mandibuloacral dysplasia. There are also other progeroid diseases that are so rare they do not have formal names. Some of these are found on the LMNA gene.
Are there treatments to help children with progeria?
Children with progeria can achieve a fair quality of life with the right care. Worthwhile treatment would address the major physical issues associated with the disorder. To find out more about progeria, visit the Progeria Research Foundation (see below).
They can be reached at:
The Progeria Research Foundation PO Box 3453 Peabody, MA 01961-3453
Last Updated: 07/2015
Compiled using information from the following sources:
The Progeria Research Foundation, http://www.progeriaresearch.org/