What is progeria syndrome?
Progeria syndrome is the term for a group of disorders that cause rapid aging in children. In Greek, “progeria” means prematurely old. Children with this condition live to an average age of 13 years old.
Progeria syndrome is rare. According to the Progeria Research Foundation, it affects about 1 in 20 million people. An estimated 350 to 400 kids are living with the syndrome at any given time in the world. Progeria affects children regardless of their gender or ethnicity.
Types of progeria syndrome
The most common type of progeria syndrome is Hutchinson-Gilford progeria syndrome. It’s a rare and fatal genetic disorder. Wiedemann-Rautenstrauch syndrome is another type of progeria syndrome. It appears in children while they’re still in utero.
The adult version of progeria syndrome is Werner syndrome. The symptoms of Werner syndrome normally occur in teenagers. People with this condition may live into their 40s or 50s.
What are the symptoms of progeria?
If your child has a type of progeria, their symptoms will likely begin to appear before or around their first birthday. They’ll probably look like a healthy baby when they’re born, but they’ll start to age rapidly from there. They’ll likely develop the following symptoms:
- poor development in height and weight
- loss of body fat
- loss of hair
- visible scalp veins
- skin that looks aged or worn
- protruding eyes
- thin lips
- stiff joints
What causes progeria?
Progeria is caused by a genetic mutation. The mutation occurs in the LMNA gene. This gene is responsible for producing a protein that helps maintain the structural integrity of the nucleus in cells. Without strength in its nucleus, a cell’s structure is weak. This leads to rapid aging.
While progeria affects genes, experts don’t think it’s hereditary. Parents who have one child who has progeria don’t have a higher chance of having another child who has it.
How is progeria diagnosed?
Your child’s doctor will first conduct a physical examination. If they suspect your child has progeria, they’ll likely order a blood test to check for a mutation of the specific gene responsible for it.
How is progeria treated?
Progeria isn’t curable, but treatment to manage the disease is available. Ongoing research has identified some promising drug options.
Some children with progeria receive treatment for complications from the disease, such as hardened arteries. For example, your child’s doctor may prescribe aspirin, statins, physical therapy, or other treatments.
What is the outlook for people with progeria?
The average lifespan for people with progeria is 13 years, although some people live into their 20s. Progeria is a fatal syndrome.
People with progeria are at heightened risk of many health conditions. For example, they tend to dislocate their hips easily. Most of them eventually experience heart disorders and stroke. It’s very common for children with progeria to develop atherosclerosis, or hardened and narrowed arteries. Most affected children eventually die from heart disease. Children with progeria have motor development that’s typical for their age.