Progeria

DOUGH GOOD
Jan 21
2 min read

Updated: Feb 20

Progeria is an extremely rare genetic disorder. Children can appear healthy at birth, then slowly display traits of progeria, like loss of fat tissue, hair loss, and slowed growth. This condition causes children to age rapidly, even causing heart attacks and strokes. The average life expectancy of a child facing progeria is 15 years.

Symptoms of Progeria

Progeria symptoms can be physical attributes or health issues. Some examples of both are shown below:

Physical attributes

Slowed growth
Poor weight gain
Veins easily seen through skin
Lack of fat stored just beneath skin
Large head compared to face
Small jaw, chin, and mouth
High pitched voice
Thin lips
Thin, curved nose with slight hook at end
Large eyes
Eyelids that don’t completely close
Premature aging
Hair loss (top of head, eyelashes, eyebrows)
Thin, spotty, wrinkled skin

Health issues

Delayed tooth formation
Unusual tooth shape
Hardening and tightening skin
Cardiovascular disease
Joint problems
Dental problems
Some hearing loss
Loss of fat under skin
Loss of muscle
Problems with bone growth and development
Hip dislocation
No significant progression of puberty
Insulin resistance

Causes of Progeria

Progeria is caused by a change in a gene, specifically lamin A, or LMNA. This gene produces a protein essential for maintaining the integrity of a cell's nucleus, but when mutated, a flawed lamin A protein known as progerin is formed instead. This protein causes the cells to become unstable, leading to a premature aging condition. This changed lamin A gene is only rarely passed down heretically, and typically occurs by chance.

What can Progeria lead to?

Atherosclerosis (severe hardening of arteries)
Problems with blood vessels that supply heart
- Causes heart attack, congestive heart failure
Problems with blood vessels that supply brain
- Causes stroke

How is Progeria diagnosed?

Progeria can be diagnosed through symptoms and physical exams of the child by a healthcare provider, then confirmed by a genetic test. The test is for changes in the lamin A gene, or LMNA.

How is Progeria treated?

There is currently no cure for progeria, but the condition can be managed, eased, or delayed. Certain therapies have proved to be effective, but they depend on the specific child’s symptoms or condition. Some include:

Low-dose aspirin
Other medicines
- Dietary therapy
- Blood thinners
- Headache and other symptom treatment
Physical therapy
Occupational therapy
Nutrition management
Hearing aids
Eye and vision care
Dental care
Lonafarnib (Zokinvy) - Oral medicine preventing progerin buildup