1443
A rare genetic condition that produces rapid aging in children.
Symptoms strongly resemble normal human aging, but occur in young children.
It usually is not passed down through families.
In more than 90% of cases a mutation of a cytosine with thymine at position 1824 in LMNA, which encodes lamin A.
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
Severe failure to thrive
Loss of eyebrows and eyelashes, and scalp hair
Short stature
Macrocephaly
Open fontanelle
Micrognathia
Dry, scaly, thin skin
Limited range of motion
Joint contracture, skeletal dysplasia
Teeth – delayed or absent
Laboratory tests may show insulin resistance
Skin changes similar to that seen in scleroderma
Loss of subcutaneous fat, and vascular smooth muscle cells
Generally normal cholesterol and triglyceride levels
Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels.
Genetic testing reveals changes in the gene (LMNA) that causes progeria.
A genetic condition that occurs as a new mutation, and is rarely inherited, as carriers usually do not live to reproduce.
No specific treatment for progeria, but aspirin and statin medications may be used to protect against a heart attack or stroke.
Causes early death with average lifespan 13 years.
The cause of death is usually related to the heart or a stroke.
There is no cure.